Author: "Pichler, I" - Searchworks@Jio Institute Digital Library Search Results

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1. Set-up of a novel in vitro neurocardiac cell model for the in-depth study of heart disease

Author: Cattelan, G, primary, Frommelt, LS, additional, De Bortoli, M, additional, Mackova, K, additional, Ciucci, G, additional, Zacchigna, S, additional, Pramstaller, PP, additional, Pichler, I, additional, Zanon, A, additional, and Rossini, A, additional
Published: 2022
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2. Erratum: SLP-2 interacts with Parkin in mitochondria and prevents mitochondrial dysfunction in Parkin-deficient human iPSC-derived neurons and Drosophila (Human Molecular Genetics (2017) 26:13 (2412-2425) DOI: 10.1093/hmg/ddx132)

Author: Zanon A., Kalvakuri S., Rakovic A., Foco L., Guida M., Schwienbacher C., Serafin A., Rudolph F., Trilck M., Grunewald A., Stanslowsky N., Wegner F., Giorgio V., Lavdas A. A., Bodmer R., Pramstaller P. P., Klein C., Hicks A. A., Pichler I., Philip S., Zanon A., Kalvakuri S., Rakovic A., Foco L., Guida M., Schwienbacher C., Serafin A., Rudolph F., Trilck M., Grunewald A., Stanslowsky N., Wegner F., Giorgio V., Lavdas A.A., Bodmer R., Pramstaller P.P., Klein C., Hicks A.A., Pichler I., and Philip S.
Subjects: Parkinson, neurons, mitochondria
Abstract: The authors of the article "SLP-2 interacts with Parkin in mitochondria and prevents mitochondrial dysfunction in Parkin-deficient human iPSC-derived neurons and Drosophila" would like to report the incorrect description of an iPSC line in the paper. Authentication analysis at Coriell Institute for Medical Research (Camden, New Jersey) revealed that the cell line named iPS-HFF in the article was not derived from newborn foreskin fibroblasts (as reported in Table S2) but from cells of a female patient with osteogenesis imperfecta (GM17602/GM17604), carrier of a heterozygous missense mutation (p.G700C; NM_000089) in the COL1A2 gene. Repeated karyotype analysis performed for the line named iPS-HFF showed a normal female karyotype, which means that the male karyotype displayed in Figure S4B is mislabeled and was not derived from iPS-HFF. Differentiated dopaminergic neurons from the line named iPS-HFF were examined for mitochondrial complex I activity (Figure 4A) and mitochondrial morphology (Figure 4B) as one of in total three analyzed control iPSC lines compared to Parkin mutant lines. Importantly, both experiments display robust phenotypes and are replicative analysis of results shown in Parkin knockdown SH-SY5Y cells: Loss-of-Parkin leads to decreased complex I activity (Figure 2B) and an increased amount of fragmented mitochondria (Figure 2D), while overexpression of SLP-2 rescues both phenotypes. This confirms that the analyzed data in Figure 4 are not influenced by the COL1A2 mutation. Furthermore, mutations in the COL1A2 gene have not been associated with neurodegenerative diseases and the symptoms of neurological movement disorders have not been described for osteogenesis imperfecta. Therefore, the fact that this particular cell line is from a diseased individual with osteogenesis imperfecta rather than a healthy control does not alter the interpretation of our results as pertaining to rescue of mitochondrial phenotypes as described in the manuscript. The authors would like to apologize for this mistake.
Published: 2019

3. Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis

Author: Gao, Y. (Yixin), Wang, T. (Ting), Yu, X. (Xinghao), Ferrari, R. (Raffaele), Hernandez, D.G. (Dena), Nalls, M.A. (Michael), Rohrer, J.D. (Jonathan), Ramasamy, A. (Adaikalavan), Kwok, J.B.J. (John), Dobson-Stone, C. (Carol), Brooks, W.S. (William S.), Schofield, P.R. (Peter R.), Halliday, G.M. (Glenda Margaret), Hodges, J.R. (John R.), Piguet, O. (Olivier), Bartley, L. (Lauren), Thompson, E. (Elizabeth), Haan, E. (Eric), Hernández, I. (Isabel), Ruiz, A. (A.), Boada, M. (Mercè), Borroni, B. (Barbara), Padovani, A. (Alessandro), Crane, L.M.A., Cairns, N.J. (Nigel), Benussi, L. (Luisa), Binetti, G. (Giuliano), Ghidoni, R. (Roberta), Forloni, G. (Gianluigi), Albani, D. (Diego), Galimberti, D. (Daniela), Fenoglio, C. (Chiara), Serpente, M. (Maria), Scarpini, E. (Elio), Clarimón, J. (Jordi), Lleo, A. (Alberto), Blesa, R. (Rafael), Waldö, M.L. (Maria Landqvist), Nilsson, K. (Karin), Nilsson, C. (Christer), Mackenzie, I.R.A. (Ian), Hsiung, G.-Y.R. (Ging-Yuek R.), Mann, D.M.A. (David M. A.), Grafman, J. (Jordan), Morris, C.M. (Chris), Attems, J. (Johannes), Griffiths, T.D. (Timothy), McKeith, I.G. (Ian), Thomas, A.J. (Alan J.), Pietrini, P. (P.), Huey, E.D. (Edward), Wassermann, E.M. (Eric), Baborie, A. (Atik), Jaros, J.A.J. (Julian), Tierney, M.C. (Michael C.), Pastor, P. (Pau), Razquin, C. (Cristina), Ortega-Cubero, S. (Sara), Alonso, E. (Elena), Perneczky, R. (Robert), Diehl-Schmid, J. (Janine), Alexopoulos, E.C. (Evangelos), Kurz, A., Rainero, I. (Innocenzo), Rubino, M. (Maurizio), Pinessi, L. (Lorenzo), Rogaeva, E. (Ekaterina), George-Hyslop, P.S. (Peter St), Rossi, G. (Giacomina), Tagliavini, F. (Fabrizio), Giaccone, G. (Giuseppe), Rowe, J.B. (James), Schlachetzki, J.C.M. (Johannes C.), Uphill, J. (James), Collinge, J. (John), Mead, S. (Simon), Danek, A. (Adrian), Deerlin, V.M. (Vivianna), Grossman, M. (Murray), Trojanowski, J.Q. (John Q.), Zee, J. (Jill) van der, Cruts, M. (Marc), Broeckhoven, C. (Christine) van, Cappa, S.F. (Stefano), Leber, I. (Isabelle), Hannequin, D. (Didier), Golfier, V. (Véronique), Vercelletto, M. (Martine), Brice, A. (Alexis), Nacmias, B. (Benedetta), Sorbi, S. (Sandro), Bagnoli, S. (Silvia), Piaceri, I. (Irene), Nielsen, J.E. (Jørgen E.), Hjermind, L.E. (Lena), Riemenschneider, M. (Matthias), Mayhaus, M. (Manuel), Ibach, B. (Bernd), Gasparoni, G. (Gilles), Pichler, I. (Irene), Gu, W. (Wei), Rossor, M. (Martin), Fox, N.C. (Nick), Warren, J.D. (Jason), Spillantini, M.G., Morris, H.R. (Huw R.), Rizzu, P. (Patrizia), Heutink, P. (Peter), Snowden, J. (Julie), Rollinson, S. (Sara), Richardson, A. (Anna), Gerhard, A. (Alex), Bruni, A.C. (Amalia), Maletta, R. (Raffaele), Frangipane, F. (Francesca), Cupidi, C. (Chiara), Bernardi, L. (Livia), Anfossi, M. (Maria), Gallo, V. (Valentina), Conidi, A. (Andrea), Smirne, N. (Nicoletta), Rademakers, S. (Suzanne), Baker, M.C. (Matthew), Dickson, D. (Dennis), Graff-Radford, N.R. (Neill), Petersen, R.C. (Ronald C.), Knopman, D.S. (David), Josephs, K.A. (Keith), Boeve, B.F. (Bradley F.), Parisi, J.E. (Joseph), Seeley, W.W. (William W.), Miller, B.L. (Bruce L.), Karydas, A.M. (Anna M.), Rosen, H. (Howard), Swieten, J.C. (John) van, Dopper, E.G.P. (Elise), Seelaar, H. (Harro), Pijnenburg, Y.A.L. (Yolande), Scheltens, P. (Philip), Logroscino, G. (Giancarlo), Capozzo, R. (Rosa), Novelli, V. (Valeria), Puca, A.A. (Annibale), Franceschi, M. (Massimo), Postiglione, A. (Alfredo), Milan, D.J. (David), Sorrentino, D. (Dario), Kristiansen, M. (Mark), Chiang, Y.T., Graff, C. (Caroline), Pasquier, F. (Florence), Rollin, A. (Adeline), Deramecourt, V. (Vincent), Lebouvier, T. (Thibaud), Kapogiannis, D. (Dimitrios), Ferrucci, L. (Luigi), Pickering-Brown, S. (Stuart), Singleton, A. (Andrew), Hardy, J. (John), Momeni, P. (Parastoo), Zhao, H. (Huashuo), Zeng, P. (Ping), Gao, Y. (Yixin), Wang, T. (Ting), Yu, X. (Xinghao), Ferrari, R. (Raffaele), Hernandez, D.G. (Dena), Nalls, M.A. (Michael), Rohrer, J.D. (Jonathan), Ramasamy, A. (Adaikalavan), Kwok, J.B.J. (John), Dobson-Stone, C. (Carol), Brooks, W.S. (William S.), Schofield, P.R. (Peter R.), Halliday, G.M. (Glenda Margaret), Hodges, J.R. (John R.), Piguet, O. (Olivier), Bartley, L. (Lauren), Thompson, E. (Elizabeth), Haan, E. (Eric), Hernández, I. (Isabel), Ruiz, A. (A.), Boada, M. (Mercè), Borroni, B. (Barbara), Padovani, A. (Alessandro), Crane, L.M.A., Cairns, N.J. (Nigel), Benussi, L. (Luisa), Binetti, G. (Giuliano), Ghidoni, R. (Roberta), Forloni, G. (Gianluigi), Albani, D. (Diego), Galimberti, D. (Daniela), Fenoglio, C. (Chiara), Serpente, M. (Maria), Scarpini, E. (Elio), Clarimón, J. (Jordi), Lleo, A. (Alberto), Blesa, R. (Rafael), Waldö, M.L. (Maria Landqvist), Nilsson, K. (Karin), Nilsson, C. (Christer), Mackenzie, I.R.A. (Ian), Hsiung, G.-Y.R. (Ging-Yuek R.), Mann, D.M.A. (David M. A.), Grafman, J. (Jordan), Morris, C.M. (Chris), Attems, J. (Johannes), Griffiths, T.D. (Timothy), McKeith, I.G. (Ian), Thomas, A.J. (Alan J.), Pietrini, P. (P.), Huey, E.D. (Edward), Wassermann, E.M. (Eric), Baborie, A. (Atik), Jaros, J.A.J. (Julian), Tierney, M.C. (Michael C.), Pastor, P. (Pau), Razquin, C. (Cristina), Ortega-Cubero, S. (Sara), Alonso, E. (Elena), Perneczky, R. (Robert), Diehl-Schmid, J. (Janine), Alexopoulos, E.C. (Evangelos), Kurz, A., Rainero, I. (Innocenzo), Rubino, M. (Maurizio), Pinessi, L. (Lorenzo), Rogaeva, E. (Ekaterina), George-Hyslop, P.S. (Peter St), Rossi, G. (Giacomina), Tagliavini, F. (Fabrizio), Giaccone, G. (Giuseppe), Rowe, J.B. (James), Schlachetzki, J.C.M. (Johannes C.), Uphill, J. (James), Collinge, J. (John), Mead, S. (Simon), Danek, A. (Adrian), Deerlin, V.M. (Vivianna), Grossman, M. (Murray), Trojanowski, J.Q. (John Q.), Zee, J. (Jill) van der, Cruts, M. (Marc), Broeckhoven, C. (Christine) van, Cappa, S.F. (Stefano), Leber, I. (Isabelle), Hannequin, D. (Didier), Golfier, V. (Véronique), Vercelletto, M. (Martine), Brice, A. (Alexis), Nacmias, B. (Benedetta), Sorbi, S. (Sandro), Bagnoli, S. (Silvia), Piaceri, I. (Irene), Nielsen, J.E. (Jørgen E.), Hjermind, L.E. (Lena), Riemenschneider, M. (Matthias), Mayhaus, M. (Manuel), Ibach, B. (Bernd), Gasparoni, G. (Gilles), Pichler, I. (Irene), Gu, W. (Wei), Rossor, M. (Martin), Fox, N.C. (Nick), Warren, J.D. (Jason), Spillantini, M.G., Morris, H.R. (Huw R.), Rizzu, P. (Patrizia), Heutink, P. (Peter), Snowden, J. (Julie), Rollinson, S. (Sara), Richardson, A. (Anna), Gerhard, A. (Alex), Bruni, A.C. (Amalia), Maletta, R. (Raffaele), Frangipane, F. (Francesca), Cupidi, C. (Chiara), Bernardi, L. (Livia), Anfossi, M. (Maria), Gallo, V. (Valentina), Conidi, A. (Andrea), Smirne, N. (Nicoletta), Rademakers, S. (Suzanne), Baker, M.C. (Matthew), Dickson, D. (Dennis), Graff-Radford, N.R. (Neill), Petersen, R.C. (Ronald C.), Knopman, D.S. (David), Josephs, K.A. (Keith), Boeve, B.F. (Bradley F.), Parisi, J.E. (Joseph), Seeley, W.W. (William W.), Miller, B.L. (Bruce L.), Karydas, A.M. (Anna M.), Rosen, H. (Howard), Swieten, J.C. (John) van, Dopper, E.G.P. (Elise), Seelaar, H. (Harro), Pijnenburg, Y.A.L. (Yolande), Scheltens, P. (Philip), Logroscino, G. (Giancarlo), Capozzo, R. (Rosa), Novelli, V. (Valeria), Puca, A.A. (Annibale), Franceschi, M. (Massimo), Postiglione, A. (Alfredo), Milan, D.J. (David), Sorrentino, D. (Dario), Kristiansen, M. (Mark), Chiang, Y.T., Graff, C. (Caroline), Pasquier, F. (Florence), Rollin, A. (Adeline), Deramecourt, V. (Vincent), Lebouvier, T. (Thibaud), Kapogiannis, D. (Dimitrios), Ferrucci, L. (Luigi), Pickering-Brown, S. (Stuart), Singleton, A. (Andrew), Hardy, J. (John), Momeni, P. (Parastoo), Zhao, H. (Huashuo), and Zeng, P. (Ping)
Abstract: We employed Mendelian randomization (MR) to evaluate the causal relationship between leukocyte telomere length (LTL) and amyotrophic lateral sclerosis (ALS) with summary statistics from genome-wide association studies (n = ~ 38,000 for LTL and ~ 81,000 for ALS in the European population; n = ~ 23,000 for LTL and ~ 4,100 for ALS in the Asian population). We further evaluated mediation roles of lipids in the pathway from LTL to ALS. The odds ratio per standard deviation decrease of LTL on ALS was 1.10 (95% CI 0.93–1.31, p = 0.274) in the European population and 0.75 (95% CI 0.53–1.07, p = 0.116) in the Asian population. This null association was also detected between LTL and frontotemporal dementia in the European population. However, we found that an indirect effect of LTL on ALS might be mediated by low density lipoprotein (LDL) or total cholesterol (TC) in the European population.
Published: 2020
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4. Quality control and conduct of genome-wide association meta-analyses

Author: Winkler, T, Day, F, Croteau Chonka, D, Wood, A, Locke, A, Mägi, R, Ferreira, T, Fall, T, Graff, M, Justice, A, Luan, J, Gustafsson, S, Randall, J, Vedantam, S, Workalemahu, T, Kilpeläinen, T, Scherag, A, Esko, T, Kutalik, Z, Heid, I, Loos, R, Abecasis GR, Absher D, Alavere H, Albrecht E, Allen HL, Almgren P, Amin N, Amouyel P, Anderson D, Arnold AM, Arveiler D, Aspelund T, Asselbergs FW, Assimes TL, Atalay M, Attwood AP, Atwood LD, Bakker SJ, Balkau B, Balmforth AJ, Barlassina C, Barroso I, Basart H, Bauer S, Beckmann JS, Beilby JP, Bennett AJ, Ben Shlomo Y, Bergman RN, Bergmann S, Berndt SI, Biffar R, Di Blasio AM, Boehm BO, Boehnke M, Boeing H, Boerwinkle E, Bolton JL, Bonnefond A, Bonnycastle LL, Boomsma DI, Borecki IB, Bornstein SR, Bouatia Naji N, Boucher G, Bragg Gresham JL, BRAMBILLA, PAOLO, Bruinenberg M, Buchanan TA, Buechler C, Cadby G, Campbell H, Caulfield MJ, Cavalcanti Proença C, CESANA, GIANCARLO, Chanock SJ, Chasman DI, Chen YD, Chines PS, Clegg DJ, Coin L, Collins FS, Connell JM, Cookson W, Cooper MN, Croteau Chonka DC, Cupples LA, Cusi D, Day FR, Day IN, Dedoussis GV, Dei M, Deloukas P, Dermitzakis ET, Dimas AS, Dimitriou M, Dixon AL, Dörr M, van Duijn CM, Ebrahim S, Edkins S, Eiriksdottir G, Eisinger K, Eklund N, Elliott P, Erbel R, Erdmann J, Erdos MR, Eriksson JG, Esko T, Estrada K, Evans DM, de Faire U, Fall T, Farrall M, Feitosa MF, Ferrario MM, Ferreira T, Ferrières J, Fischer K, Fisher E, Fowkes G, Fox CS, Franke L, Franks PW, Fraser RM, Frau F, Frayling T, Freimer NB, Froguel P, Fu M, Gaget S, Ganna A, Gejman PV, Gentilini D, Geus EJ, Gieger C, Gigante B, Gjesing AP, Glazer NL, Goddard ME, Goel A, Grallert H, Gräßler J, Grönberg H, Groop LC, Groves CJ, Gudnason V, Guiducci C, Gustafsson S, Gyllensten U, Hall AS, Hall P, Hallmans G, Hamsten A, Hansen T, Haritunians T, Harris TB, van der Harst P, Hartikainen AL, Hassanali N, Hattersley AT, Havulinna AS, Hayward C, Heard Costa NL, Heath AC, Hebebrand J, Heid IM, den Heijer M, Hengstenberg C, Herzig KH, Hicks AA, Hingorani A, Hinney A, Hirschhorn JN, Hofman A, Holmes CC, Homuth G, Hottenga JJ, Hovingh KG, Hu FB, Hu YJ, Huffman JE, Hui J, Huikuri H, Humphries SE, Hung J, Hunt SE, Hunter D, Hveem K, Hyppönen E, Igl W, Illig T, Ingelsson E, Iribarren C, Isomaa B, Jackson AU, Jacobs KB, James AL, Jansson JO, Jarick I, Jarvelin MR, Jöckel KH, Johansson Å, Johnson T, Jolley J, Jørgensen T, Jousilahti P, Jula A, Justice AE, Kaakinen M, Kähönen M, Kajantie E, Kanoni S, Kao WH, Kaplan LM, Kaplan RC, Kaprio J, Kapur K, Karpe F, Kathiresan S, Kee F, Keinanen Kiukaanniemi SM, Ketkar S, Kettunen J, Khaw KT, Kiemeney LA, Kilpeläinen TO, Kinnunen L, Kivimaki M, Kivmaki M, Van der Klauw MM, Kleber ME, Knowles JW, Koenig W, Kolcic I, Kolovou G, König IR, Koskinen S, Kovacs P, Kraft P, Kraja AT, Kristiansson K, KrjutÅjkov K, Kroemer HK, Krohn JP, Krzelj V, Kuh D, Kulzer JR, Kumari M, Kutalik Z, Kuulasmaa K, Kuusisto J, Kvaloy K, Laakso M, Laitinen JH, Lakka TA, Lamina C, Langenberg C, Lantieri O, Lathrop GM, Launer LJ, Lawlor DA, Lawrence RW, Leach IM, Lecoeur C, Lee SH, Lehtimäki T, Leitzmann MF, Lettre G, Levinson DF, Li G, Li S, Liang L, Lin DY, Lind L, Lindgren CM, Lindström J, Liu J, Liuzzi A, Locke AE, Lokki ML, Loley C, Loos RJ, Lorentzon M, Luan J, Luben RN, Ludwig B, Madden PA, Mägi R, Magnusson PK, Mangino M, Manunta P, Marek D, Marre M, Martin NG, März W, Maschio A, Mathieson I, McArdle WL, McCaroll SA, McCarthy A, McCarthy MI, McKnight B, Medina Gomez C, Medland SE, Meitinger T, Metspalu A, van Meurs JB, Meyre D, Midthjell K, Mihailov E, Milani L, Min JL, Moebus S, Moffatt MF, Mohlke KL, Molony C, Monda KL, Montgomery GW, Mooser V, Morken MA, Morris AD, Morris AP, Mühleisen TW, Müller Nurasyid M, Munroe PB, Musk AW, Narisu N, Navis G, Neale BM, Nelis M, Nemesh J, Neville MJ, Ngwa JS, Nicholson G, Nieminen MS, Njølstad I, Nohr EA, Nolte IM, North KE, Nöthen MM, Nyholt DR, O'Connell JR, Ohlsson C, Oldehinkel AJ, van Ommen GJ, Ong KK, Oostra BA, Ouwehand WH, Palmer CN, Palmer LJ, Palotie A, Paré G, Parker AN, Paternoster L, Pawitan Y, Pechlivanis S, Peden JF, Pedersen NL, Pedersen O, Pellikka N, Peltonen L, Penninx B, Perola M, Perry JR, Person T, Peters A, Peters MJ, Pichler I, Pietiläinen KH, Platou CG, Polasek O, Pouta A, Power C, Pramstaller PP, Preuss M, Price JF, Prokopenko I, Province MA, Psaty BM, Purcell S, Pütter C, Qi L, Quertermous T, Radhakrishnan A, Raitakari O, Randall JC, Rauramaa R, Rayner NW, Rehnberg E, Rendon A, Ridderstråle M, Ridker PM, Ripatti S, Rissanen A, Rivadeneira F, Rivolta C, Robertson NR, Rose LM, Rudan I, Saaristo TE, Sager H, Salomaa V, Samani NJ, Sambrook JG, Sanders AR, Sandholt C, Sanna S, Saramies J, Schadt EE, Scherag A, Schipf S, Schlessinger D, Schreiber S, Schunkert H, Schwarz PE, Scott LJ, Shi J, Shin SY, Shuldiner AR, Shungin D, Signorini S, Silander K, Sinisalo J, Skrobek B, Smit JH, Smith AV, Smith GD, Snieder H, Soranzo N, Sørensen TI, Sovio U, Spector TD, Speliotes EK, Stančáková A, Stark K, Stefansson K, Steinthorsdottir V, Stephens JC, Stirrups K, Stolk RP, Strachan DP, Strawbridge RJ, Stringham HM, Stumvoll M, Surakka I, Swift AJ, Syvanen AC, Tammesoo ML, Teder Laving M, Teslovich TM, Teumer A, Theodoraki EV, Thomson B, Thorand B, Thorleifsson G, Thorsteinsdottir U, Timpson NJ, Tönjes A, Tregouet DA, Tremoli E, Trip MD, Tuomi T, Tuomilehto J, Tyrer J, Uda M, Uitterlinden AG, Usala G, Uusitupa M, Valle TT, Vandenput L, Vatin V, Vedantam S, de Vegt F, Vermeulen SH, Viikari J, Virtamo J, Visscher PM, Vitart V, Van Vliet Ostaptchouk JV, Voight BF, Vollenweider P, Volpato CB, Völzke H, Waeber G, Waite LL, Wallaschofski H, Walters GB, Wang Z, Wareham NJ, Watanabe RM, Watkins H, Weedon MN, Welch R, Weyant RJ, Wheeler E, White CC, Wichmann HE, Widen E, Wild SH, Willemsen G, Willer CJ, Wilsgaard T, Wilson JF, van Wingerden S, Winkelmann BR, Winkler TW, Witte DR, Witteman JC, Wolffenbuttel BH, Wong A, Wood AR, Workalemahu T, Wright AF, Yang J, Yarnell JW, Zgaga L, Zhao JH, Zillikens MC, Zitting P, Zondervan KT, Life Course Epidemiology (LCE), Lifestyle Medicine (LM), Center for Liver, Digestive and Metabolic Diseases (CLDM), Winkler, T, Day, F, Croteau Chonka, D, Wood, A, Locke, A, Mägi, R, Ferreira, T, Fall, T, Graff, M, Justice, A, Luan, J, Gustafsson, S, Randall, J, Vedantam, S, Workalemahu, T, Kilpeläinen, T, Scherag, A, Esko, T, Kutalik, Z, Heid, I, Loos, R, Abecasis, G, Absher, D, Alavere, H, Albrecht, E, Allen, H, Almgren, P, Amin, N, Amouyel, P, Anderson, D, Arnold, A, Arveiler, D, Aspelund, T, Asselbergs, F, Assimes, T, Atalay, M, Attwood, A, Atwood, L, Bakker, S, Balkau, B, Balmforth, A, Barlassina, C, Barroso, I, Basart, H, Bauer, S, Beckmann, J, Beilby, J, Bennett, A, Ben Shlomo, Y, Bergman, R, Bergmann, S, Berndt, S, Biffar, R, Di Blasio, A, Boehm, B, Boehnke, M, Boeing, H, Boerwinkle, E, Bolton, J, Bonnefond, A, Bonnycastle, L, Boomsma, D, Borecki, I, Bornstein, S, Bouatia Naji, N, Boucher, G, Bragg Gresham, J, Brambilla, P, Bruinenberg, M, Buchanan, T, Buechler, C, Cadby, G, Campbell, H, Caulfield, M, Cavalcanti Proença, C, Cesana, G, Chanock, S, Chasman, D, Chen, Y, Chines, P, Clegg, D, Coin, L, Collins, F, Connell, J, Cookson, W, Cooper, M, Cupples, L, Cusi, D, Day, I, Dedoussis, G, Dei, M, Deloukas, P, Dermitzakis, E, Dimas, A, Dimitriou, M, Dixon, A, Dörr, M, van Duijn, C, Ebrahim, S, Edkins, S, Eiriksdottir, G, Eisinger, K, Eklund, N, Elliott, P, Erbel, R, Erdmann, J, Erdos, M, Eriksson, J, Estrada, K, Evans, D, de Faire, U, Farrall, M, Feitosa, M, Ferrario, M, Ferrières, J, Fischer, K, Fisher, E, Fowkes, G, Fox, C, Franke, L, Franks, P, Fraser, R, Frau, F, Frayling, T, Freimer, N, Froguel, P, Fu, M, Gaget, S, Ganna, A, Gejman, P, Gentilini, D, Geus, E, Gieger, C, Gigante, B, Gjesing, A, Glazer, N, Goddard, M, Goel, A, Grallert, H, Gräßler, J, Grönberg, H, Groop, L, Groves, C, Gudnason, V, Guiducci, C, Gyllensten, U, Hall, A, Hall, P, Hallmans, G, Hamsten, A, Hansen, T, Haritunians, T, Harris, T, 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Wichmann, HE., Widen, E., Wild, SH., Willemsen, G., Willer, CJ., Wilsgaard, T., Wilson, JF., van Wingerden, S., Winkelmann, BR., Winkler, TW., Witte, DR., Witteman, JC., Wolffenbuttel, BH., Wong, A., Wood, AR., Workalemahu, T., Wright, AF., Yang, J., Yarnell, JW., Zgaga, L., Zhao, JH., Zillikens, MC., Zitting, P., and Zondervan, KT.
Subjects: Quality Control, Netherlands Twin Register (NTR), BIO/12 - BIOCHIMICA CLINICA E BIOLOGIA MOLECOLARE CLINICA, media_common.quotation_subject, quality control, GWAMAS, Control (management), Medizin, Genome-wide association study, Biology, Bioinformatics, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, 0302 clinical medicine, Software, SDG 17 - Partnerships for the Goals, Meta-Analysis as Topic, Comparable size, Quality (business), 030304 developmental biology, media_common, Protocol (science), 0303 health sciences, business.industry, Software package, Data science, Urological cancers Radboud Institute for Health Sciences [Radboudumc 15], Genome-Wide Association Study/methods, Inflammatory diseases Radboud Institute for Health Sciences [Radboudumc 5], quality control, genome-wide association meta-analyses, business, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract: Item does not contain fulltext Rigorous organization and quality control (QC) are necessary to facilitate successful genome-wide association meta-analyses (GWAMAs) of statistics aggregated across multiple genome-wide association studies. This protocol provides guidelines for (i) organizational aspects of GWAMAs, and for (ii) QC at the study file level, the meta-level across studies and the meta-analysis output level. Real-world examples highlight issues experienced and solutions developed by the GIANT Consortium that has conducted meta-analyses including data from 125 studies comprising more than 330,000 individuals. We provide a general protocol for conducting GWAMAs and carrying out QC to minimize errors and to guarantee maximum use of the data. We also include details for the use of a powerful and flexible software package called EasyQC. Precise timings will be greatly influenced by consortium size. For consortia of comparable size to the GIANT Consortium, this protocol takes a minimum of about 10 months to complete.
Published: 2014

5. Restless legs syndrome: an update on genetics and future perspectives

Author: Pichler, I, Hicks, A A, and Pramstaller, P P
Published: 2008

6. Mitochondrial respiratory states and rate

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Galkin, A., Gallee, L., Galli, GL., Gama Perez, P., Gan, Z., Ganetzky, R., Garcia-Rivas, G., Garcia-Roves, PM., Garcia-Souza, LF., Garipi, E., Garlid, KD., Garrabou, G., Garten, A., Gastaldelli, A., Gayen, J., Genders, AJ., Genova, ML., Giovarelli, M., Goncalo Teixeira da Silva, R., Goncalves, DF., Gonzalez-Armenta, JL., Gonzalez-Freire, M., Gonzalo, H., Goodpaster, BH., Gorr, TA., Gourlay, CW., Granata, C., Grefte, S., Guarch, ME., Gueguen, N., Gumeni, S., Haas, CB., Haavik, J., Haendeler, J., Haider, M., Hamann, A., Han, J., Han, WH., Hancock, CR., Hand, SC., Handl, J., Hargreaves, IP., Harper, ME., Harrison, DK., Hassan, H., Hausenloy, DJ., Heales, SJR., Heiestad, C., Hellgren, KT., Hepple, RT., Hernansanz-Agustin, P., Hewakapuge, S., Hickey, AJ., Ho, DH., Hoehn, KL., Hoel, F., Holland, OJ., Holloway, GP., Hoppel, CL., Hoppel, F., Houstek, J., Huete-Ortega, M., Hyrossova, P., Iglesias-Gonzalez, J., Irving, BA., Isola, R., Iyer, S., Jackson, CB., Jadiya, P., Jana, PF., Jang, DH., Jang, YC., Janowska, J., Jansen, K., Jansen-Duerr, P., Jansone, B., Jarmuszkiewicz, W., Jaskiewicz, A., Jedlicka, J., Jespersen, NR., Jha, RK., Jurczak, MJ., Jurk, D., Kaambre, T., Kaczor, JJ., Kainulainen, H., Kampa, RP., Kandel, SM., Kane, DA., Kapferer, W., Kappler, L., Karabatsiakis, A., Karavaeva, I., Karkucinska-Wieckowska, A., Kaur, S., Keijer, J., Keller, MA., Keppner, G., Khamoui, AV., Kidere, D., Kilbaugh, T., Kim, HK., Kim, JKS., Klepinin, A., Klepinina, L., Klingenspor, M., Klocker, H., Komlodi, T., Koopman, WJH., Kopitar-Jerala, N., Kowaltowski, AJ., Kozlov, AV., Krajcova, A., Krako Jakovljevic, N., Kristal, BS., Krycer, JR., Kuang, J., Kucera, O., Kuka, J., Kwak, HB., Kwast, K., Laasmaa, M., Labieniec-Watala, M., Lagarrigue, S., Lai, N., Land, JM., Lane, N., Laner, V., Lanza, IR., Laranjinha, J., Larsen, TS., Lavery, GG., Lazou, A., Lee, HK., Leeuwenburgh, C., Lehti, M., Lemieux, H., Lenaz, G., Lerfall, J., Li, PA., Li Puma, L., Liepins, E., Liu, J., Lopez, LC., Lucchinetti, E., Ma, T., Macedo, MP., Maciej, S., MacMillan-Crow, LA., Majtnerova, P., Makarova, E., Makrecka-Kuka, M., Malik, AN., Markova, M., Martin, DS., Martins, AD., Martins, JD., Maseko, TE., Maull, F., Mazat, JP., McKenna, HT., McKenzie, M., Menze, MA., Merz, T., Meszaros, AT., Methner, A., Michalak, S., Moellering, DR., Moisoi, N., Molina, AJA., Montaigne, D., Moore, AL., Moreau, K., Moreira, BP., Moreno-Sanchez, R., Mracek, T., Muccini, AM., Munro, D., Muntane, J., Muntean, DM., Murray, AJ., Musiol, E., Nabben, M., Nair, KS., Nehlin, JO., Nemec, M., Neufer, PD., Neuzil, J., Neviere, R., Newsom, SA., Nozickova, K., O'Brien, KA., O'Gorman, D., Olgar, Y., Oliveira, B., Oliveira, MF., Oliveira, MT., Oliveira, PF., Oliveira, PJ., Orynbayeva, Z., Osiewacz, HD., Pak, YK., Pallotta, ML., Palmeira, CM., Parajuli, N., Passos, JF., Passrugger, M., Patel, HH., Pavlova, N., Pecina, P., Pedersen, TM., Pereira da Silva Grilo da Silva, F., Pereira, SP., Perez Valencia, JA., Perks, KL., Pesta, D., Petit, PX., Pettersen, IKN., Pichaud, N., Pichler, I., Piel, S., Pietka, TA., Pino, MF., Pirkmajer, S., Plangger, M., Porter, C., Porter, RK., Procaccio, V., Prochownik, EV., Prola, A., Pulinilkunnil, T., Puskarich, MA., Puurand, M., Radenkovic, F., Ramzan, R., Rattan, SIS., Reboredo, P., Renner-Sattler, K., Rial, E., Robinson, MM., Roden, M., Rodriguez, E., Rodriguez-Enriquez, S., Roesland, GV., Rohlena, J., Rolo, AP., Ropelle, ER., Rossignol, R., Rossiter, HB., Rubelj, I., Rybacka-Mossakowska, J., Saada, A., Safaei, Z., Saharnaz, S., Salin, K., Salvadego, D., Sandi, C., Saner, N., Sanz, A., Sazanov, LA., Scatena, R., Schartner, M., Scheibye-Knudsen, M., Schilling, JM., Schlattner, U., Schoenfeld, P., Schots, PC., Schulz, R., Schwarzer, C., Scott, GR., Selman, C., Shabalina, IG., Sharma, P., Sharma, V., Shevchuk, I., Shirazi, R., Shiroma, JG., Siewiera, K., Silber, AM., Silva, AM., Sims, CA., Singer, D., Singh, BK., Skolik, R., Smenes, BT., Smith, J., Soares, FAA., Sobotka, O., Sokolova, I., Sonkar, VK., Sowton, AP., Sparagna, GC., Sparks, LM., Spinazzi, M., Stankova, P., Starr, J., Stary, C., Stelfa, G., Stepto, NK., Stiban, J., Stier, A., Stocker, R., Storder, J., Sumbalova, Z., Suomalainen, A., Suravajhala, P., Svalbe, B., Swerdlow, RH., Swiniuch, D., Szabo, I., Szewczyk, A., Szibor, M., Tanaka, M., Tandler, B., Tarnopolsky, MA., Tausan, D., Tavernarakis, N., Tepp, K., Thakkar, H., Thapa, M., Thyfault, JP., Tomar, D., Ton, R., Torp, MK., Towheed, A., Tretter, L., Trewin, AJ., Trifunovic, A., Trivigno, C., Tronstad, KJ., Trougakos, IP., Truu, L., Tuncay, E., Turan, B., Tyrrell, DJ., Urban, T., Valentine, JM., Van Bergen, NJ., Van Hove, J., Varricchio, F., Vella, J., Vendelin, M., Vercesi, AE., Victor, VM., Vieira Ligo Teixeira, C., Vidimce, J., Viel, C., Vieyra, A., Vilks, K., Villena, JA., Vincent, V., Vinogradov, AD., Viscomi, C., Vitorino, RMP., Vogt, S., Volani, C., Volska, K., Votion, DM., Vujacic-Mirski, K., Wagner, BA., Ward, ML., Warnsmann, V., Wasserman, DH., Watala, C., Wei, YH., Whitfield, J., Wickert, A., Wieckowski, MR., Wiesner, RJ., Williams, CM., Winwood-Smith, H., Wohlgemuth, SE., Wohlwend, M., Wolff, JN., Wrutniak-Cabello, C., Wuest, RCI., Yokota, T., Zablocki, K., Zanon, A., Zanou, N., Zaugg, K., Zaugg, M., Zdrazilova, L., Zhang, Y., Zhang, YZ., Zikova, A., Zischka, H., Zorzano, A., and Zvejniece, L.
Subjects: Mitochondrial respiratory control, coupling control, mitochondrial preparations, protonmotive force, uncoupling, oxidative phosphorylation, OXPHOS, efficiency, electron transfer, ET, proton leak, LEAK, residual oxygen consumption, ROX, State 2, State 3, State 4, normalization, flow, flux, O2
Abstract: As the knowledge base and importance of mitochondrial physiology to human health expands, the necessity for harmonizing the terminologyconcerning mitochondrial respiratory states and rates has become increasingly apparent. Thechemiosmotic theoryestablishes the mechanism of energy transformationandcoupling in oxidative phosphorylation. Theunifying concept of the protonmotive force providestheframeworkfordeveloping a consistent theoretical foundation ofmitochondrial physiology and bioenergetics.We followguidelines of the International Union of Pure and Applied Chemistry(IUPAC)onterminology inphysical chemistry, extended by considerationsofopen systems and thermodynamicsof irreversible processes.Theconcept-driven constructive terminology incorporates the meaning of each quantity and alignsconcepts and symbols withthe nomenclature of classicalbioenergetics. We endeavour to provide a balanced view ofmitochondrial respiratory control and a critical discussion on reporting data of mitochondrial respiration in terms of metabolic flows and fluxes.Uniform standards for evaluation of respiratory states and rates will ultimatelycontribute to reproducibility between laboratories and thussupport the development of databases of mitochondrial respiratory function in species, tissues, and cells.Clarity of concept and consistency of nomenclature facilitate effective transdisciplinary communication, education, and ultimately further discovery.
Published: 2019

7. Population Isolates in South Tyrol and Their Value for Genetic Dissection of Complex Diseases

Author: Marroni, F., Pichler, I., De Grandi, A., Beu Volpato, C., Vogl, F. D., Pinggera, G. K., Bailey-Wilson, J. E., and Pramstaller, P. P.
Published: 2006

8. Healthy diet in primary care: views of general practitioners and nurses from Europe

Author: Piñeiro, R, Brotons, C, Bulc, M, Ciurana, R, Drenthen, T, Durrer, D, Godycki-Cwirko, M, Görpelioglu, S, Kloppe, P, Lionis, C, Mancini, M, Martins, C, Mierzecki, A, Pichler, I, Pullerits, L, Sammut, M R, Sghedoni, D, Sheehan, M, and Thireos, E A
Published: 2005

9. Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia

Author: Bonham, L.W. (Luke W.), Steele, N.Z.R. (Natasha Z. R.), Karch, C.M. (Celeste M.), Broce, I. (Iris), Geier, E.G. (Ethan G.), Wen, N.L. (Natalie L.), Momeni, P. (Parastoo), Hardy, J. (John), Miller, Z.A. (Zachary A.), Gorno-Tempini, M.L. (Maria Luisa), Hess, C.P. (Christopher P.), Lewis, P. (Patrick), Miller, B.L. (Bruce Lars), Seeley, W.W. (William W.), Manzoni, C. (Claudia), Desikan, R.S. (Rahul S.), Baranzini, S.E. (Sergio), Ferrari, R. (Raffaele), Yokoyama, J.S. (Jennifer S.), Hernandez, D.G. (Dena), Nalls, M.A. (Michael), Rohrer, J.D. (Jonathan), Ramasamy, A. (Adaikalavan), Kwok, J.B.J. (John), Dobson-Stone, C. (Carol), Schofield, P.R. (P. R.), Halliday, G.M. (Glenda Margaret), Hodges, J. (John), Piguet, O. (Olivier), Bartley, L. (Lauren), Thompson, E. (E.), Haan, E. (Eric), Hernández, I. (Isabel), Ruiz, A. (A.), Boada, M. (M.), Borroni, B. (Barbara), Padovani, A. (Alessandro), Cruchaga, C. (C.), Cairns, N.J. (Nigel), Benussi, L. (Luisa), Binetti, G. (Giuliano), Ghidoni, R. (R.), Forloni, G. (Gianluigi), Albani, D. (D.), Galimberti, D. (Daniela), Fenoglio, C. (Chiara), Serpente, M. (Maria), Scarpini, E. (E.), Clarimón, J. (J.), Lleo, A. (Alberto), Blesa, R. (Rafael), Landqvist Waldö, M. (M.), Nilsson, K. (K.), Nilsson, C. (Christer), Mackenzie, I.R.A. (Ian), Hsiung, G.Y.R. (Ging-Yuek), Mann, D.M.A. (D. M.A.), Grafman, J. (Jordan), Morris, C.M. (Chris), Attems, J. (Johannes), Griffiths, T.D. (Timothy), McKeith, I.G. (Ian), Thomas, A.W. (Alan), Pietrini, P. (P.), Huey, E.D. (Edward), Wassermann, E.M. (Eric), Baborie, A. (Atik), Jaros, J.A.J. (Julian), Tierney, M.C. (M. C.), Pastor, P. (P.), Razquin, C. (Cristina), Ortega-Cubero, S. (S.), Alonso, E. (E.), Perneczky, R. (Robert), Diehl-Schmid, J. (Janine), Alexopoulos, E.C. (Evangelos), Kurz, A., Rainero, I. (Innocenzo), Rubino, M. (Maurizio), Pinessi, L. (Lorenzo), Rogaeva, E. (Ekaterina), St. George-Hyslop, P. (Peter), Rossi, G. (G.), Tagliavini, F. (F.), Giaccone, G. (Giuseppe), Rowe, J.B. (James), Schlachetzki, J.C.M. (Johannes C.), Uphill, J. (James), Collinge, J. (J.), Mead, S. (S.), Danek, A. (A.), Deerlin, V.M. (Vivianna), Grossman, M. (Murray), Trojanowski, J.Q. (J. Q.), Zee, J. (Jill) van der, Cruts, M. (Marc), Broeckhoven, C. (Christine) van, Cappa, S.F. (Stefano), Leber, I. (Isabelle), Hannequin, D. (Didier), Golfier, V. (Véronique), Vercelletto, M. (Martine), Brice, A. (A.), Nacmias, B. (Benedetta), Sorbi, S. (Sandro), Bagnoli, S. (Silvia), Piaceri, I. (Irene), Nielsen, J.E. (J. E.), Hjermind, L.E. (Lena), Riemenschneider, M. (M.), Mayhaus, M. (Manuel), Ibach, B. (Bernd), Gasparoni, G. (Gilles), Pichler, I. (Irene), Gu, W. (W.), Rossor, M. (Martin), Fox, N.C. (Nick), Warren, J.D. (Jason), Spillantini, M.G., Morris, H. (Huw), Rizzu, P. (Patrizia), Heutink, P. (Peter), Snowden, J. (Julie), Rollinson, S. (Sara), Richardson, A. (Anna), Gerhard, A. (Alex), Bruni, A.C. (Amalia), Maletta, R. (Raffaele), Frangipane, F. (Francesca), Cupidi, C. (Chiara), Bernardi, L. (Livia), Anfossi, M. (Maria), Gallo, V. (Valentina), Conidi, A. (Andrea), Smirne, N. (Nicoletta), Rademakers, S. (Suzanne), Baker, M.C. (Matthew), Dickson, D. (Dennis), Graff-Radford, N.R. (Neill), Petersen, R.C. (R. C.), Knopman, D.S. (David), Josephs, K.A. (Keith), Boeve, B.F. (Bradley), Parisi, J.E. (Joseph), Karydas, A.M. (A. M.), Rosen, H. (H.), Swieten, J.C. (John) van, Dopper, E.G.P. (Elise), Seelaar, H. (H.), Pijnenburg, Y.A.L. (Yolande), Scheltens, P. (Philip), Logroscino, G. (Giancarlo), Capozzo, R. (Rosa), Novelli, V. (Valeria), Puca, A.A. (Annibale), Franceschi, C. (Claudio), Postiglione, A. (Alfredo), Milan, D.J. (David), Sorrentino, D. (Dario), Kristiansen, M. (Mark), Chiang, Y.T., Graff, C. (C.), Pasquier, F. (Florence), Rollin, A. (A.), Deramecourt, V. (Vincent), Lebouvier, T. (T.), Kapogiannis, D. (Dimitrios), Ferrucci, L. (L.), Pickering-Brown, S. (Stuart), Singleton, A. (Andrew), Bonham, L.W. (Luke W.), Steele, N.Z.R. (Natasha Z. R.), Karch, C.M. (Celeste M.), Broce, I. (Iris), Geier, E.G. (Ethan G.), Wen, N.L. (Natalie L.), Momeni, P. (Parastoo), Hardy, J. (John), Miller, Z.A. (Zachary A.), Gorno-Tempini, M.L. (Maria Luisa), Hess, C.P. (Christopher P.), Lewis, P. (Patrick), Miller, B.L. (Bruce Lars), Seeley, W.W. (William W.), Manzoni, C. (Claudia), Desikan, R.S. (Rahul S.), Baranzini, S.E. (Sergio), Ferrari, R. (Raffaele), Yokoyama, J.S. (Jennifer S.), Hernandez, D.G. (Dena), Nalls, M.A. (Michael), Rohrer, J.D. (Jonathan), Ramasamy, A. (Adaikalavan), Kwok, J.B.J. (John), Dobson-Stone, C. (Carol), Schofield, P.R. (P. R.), Halliday, G.M. (Glenda Margaret), Hodges, J. (John), Piguet, O. (Olivier), Bartley, L. (Lauren), Thompson, E. (E.), Haan, E. (Eric), Hernández, I. (Isabel), Ruiz, A. (A.), Boada, M. (M.), Borroni, B. (Barbara), Padovani, A. (Alessandro), Cruchaga, C. (C.), Cairns, N.J. (Nigel), Benussi, L. (Luisa), Binetti, G. (Giuliano), Ghidoni, R. (R.), Forloni, G. (Gianluigi), Albani, D. (D.), Galimberti, D. (Daniela), Fenoglio, C. (Chiara), Serpente, M. (Maria), Scarpini, E. (E.), Clarimón, J. (J.), Lleo, A. (Alberto), Blesa, R. (Rafael), Landqvist Waldö, M. (M.), Nilsson, K. (K.), Nilsson, C. (Christer), Mackenzie, I.R.A. (Ian), Hsiung, G.Y.R. (Ging-Yuek), Mann, D.M.A. (D. M.A.), Grafman, J. (Jordan), Morris, C.M. (Chris), Attems, J. (Johannes), Griffiths, T.D. (Timothy), McKeith, I.G. (Ian), Thomas, A.W. (Alan), Pietrini, P. (P.), Huey, E.D. (Edward), Wassermann, E.M. (Eric), Baborie, A. (Atik), Jaros, J.A.J. (Julian), Tierney, M.C. (M. C.), Pastor, P. (P.), Razquin, C. (Cristina), Ortega-Cubero, S. (S.), Alonso, E. (E.), Perneczky, R. (Robert), Diehl-Schmid, J. (Janine), Alexopoulos, E.C. (Evangelos), Kurz, A., Rainero, I. (Innocenzo), Rubino, M. (Maurizio), Pinessi, L. (Lorenzo), Rogaeva, E. (Ekaterina), St. George-Hyslop, P. (Peter), Rossi, G. (G.), Tagliavini, F. (F.), Giaccone, G. (Giuseppe), Rowe, J.B. (James), Schlachetzki, J.C.M. (Johannes C.), Uphill, J. (James), Collinge, J. (J.), Mead, S. (S.), Danek, A. (A.), Deerlin, V.M. (Vivianna), Grossman, M. (Murray), Trojanowski, J.Q. (J. Q.), Zee, J. (Jill) van der, Cruts, M. (Marc), Broeckhoven, C. (Christine) van, Cappa, S.F. (Stefano), Leber, I. (Isabelle), Hannequin, D. (Didier), Golfier, V. (Véronique), Vercelletto, M. (Martine), Brice, A. (A.), Nacmias, B. (Benedetta), Sorbi, S. (Sandro), Bagnoli, S. (Silvia), Piaceri, I. (Irene), Nielsen, J.E. (J. E.), Hjermind, L.E. (Lena), Riemenschneider, M. (M.), Mayhaus, M. (Manuel), Ibach, B. (Bernd), Gasparoni, G. (Gilles), Pichler, I. (Irene), Gu, W. (W.), Rossor, M. (Martin), Fox, N.C. (Nick), Warren, J.D. (Jason), Spillantini, M.G., Morris, H. (Huw), Rizzu, P. (Patrizia), Heutink, P. (Peter), Snowden, J. (Julie), Rollinson, S. (Sara), Richardson, A. (Anna), Gerhard, A. (Alex), Bruni, A.C. (Amalia), Maletta, R. (Raffaele), Frangipane, F. (Francesca), Cupidi, C. (Chiara), Bernardi, L. (Livia), Anfossi, M. (Maria), Gallo, V. (Valentina), Conidi, A. (Andrea), Smirne, N. (Nicoletta), Rademakers, S. (Suzanne), Baker, M.C. (Matthew), Dickson, D. (Dennis), Graff-Radford, N.R. (Neill), Petersen, R.C. (R. C.), Knopman, D.S. (David), Josephs, K.A. (Keith), Boeve, B.F. (Bradley), Parisi, J.E. (Joseph), Karydas, A.M. (A. M.), Rosen, H. (H.), Swieten, J.C. (John) van, Dopper, E.G.P. (Elise), Seelaar, H. (H.), Pijnenburg, Y.A.L. (Yolande), Scheltens, P. (Philip), Logroscino, G. (Giancarlo), Capozzo, R. (Rosa), Novelli, V. (Valeria), Puca, A.A. (Annibale), Franceschi, C. (Claudio), Postiglione, A. (Alfredo), Milan, D.J. (David), Sorrentino, D. (Dario), Kristiansen, M. (Mark), Chiang, Y.T., Graff, C. (C.), Pasquier, F. (Florence), Rollin, A. (A.), Deramecourt, V. (Vincent), Lebouvier, T. (T.), Kapogiannis, D. (Dimitrios), Ferrucci, L. (L.), Pickering-Brown, S. (Stuart), and Singleton, A. (Andrew)
Abstract: The semantic variant of primary progressive aphasia (svPPA) is a clinical syndrome characterized by neurodegeneration and progressive loss of semantic knowledge. Unlike many other forms of frontotemporal lobar degeneration (FTLD), svPPA has a highly consistent underlying pathology composed of TDP-43 (a regulator of RNA and DNA transcription metabolism). Previous genetic studies of svPPA are limited by small sample sizes and a paucity of common risk variants. Despite this, svPPA’s relatively homogenous clinicopathologic phenotype makes it an ideal investigative model to examine genetic processes that may drive neurodegenerative disease. In this study, we used GWAS metadata, tissue samples from pathologically confirmed frontotemporal lobar degeneration, and in silico techniques to identify and characterize protein interaction networks associated with svPPA risk. We identified 64 svPPA risk genes that interact at the protein level. The protein pathways represented in this svPPA gene network are critical regulators of RNA metabolism
Published: 2019
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10. Cerebral regional tissue Oxygen Saturation to Guide Oxygen Delivery in preterm neonates during immediate transition after birth (COSGOD III): an investigator-initiated, randomized, multi-center, multi-national, clinical trial on additional cerebral tissue oxygen saturation monitoring combined with defined treatment guidelines versus standard monitoring and treatment as usual in premature infants during immediate transition: study protocol for a randomized controlled trial

Author: Pichler, I. (Irene), Baumgartner, S. (Sandro), Biermayr, M., Dempsey, E., Fuchs, H. (Helmut), Goos, T.G., Lista, G., Lorenz, L., Karpinski, L., Mitra, S., Kornhauser-Cerar, L., Avian, A., Urlesberger, B. (Berndt), Schmolzer, G.M., Pichler, I. (Irene), Baumgartner, S. (Sandro), Biermayr, M., Dempsey, E., Fuchs, H. (Helmut), Goos, T.G., Lista, G., Lorenz, L., Karpinski, L., Mitra, S., Kornhauser-Cerar, L., Avian, A., Urlesberger, B. (Berndt), and Schmolzer, G.M.
Abstract: Background: Transition immediately after birth is a complex physiological process. The neonate has to establish sufficient ventilation to ensure significant changes from intra-uterine to extra-uterine circulation. If hypoxia or bradycardia or both occur, as commonly happens during immediate transition in preterm neonates, cerebral hypoxia–ischemia may cause perinatal brain injury. The primary objective of the COSGOD phase III trial is to investigate whether it is possible to increase survival without cerebral injury in preterm neonates of less than 32 weeks of
Published: 2019
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11. Genetically elevated high-density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer's disease

Author: Peloso, G.M. (Gina M.), Lee, S.J. (Sven) van der, Sims, R. (Rebecca), van der Lee, S.J. (S. J.), Naj, A.C. (A. C.), Bellenguez, C. (Céline), Badarinarayan, N. (Nandini), Jakobsdottir, M. (Margret), Kunkle, B.W. (B. W.), Boland, A. (A.), Raybould, R. (R.), Bis, J.C. (Joshua), Martin, E.R. (E. R.), Grenier-Boley, B. (Benjamin), Heilmann-Heimbach, S. (S.), Chouraki, V. (V.), Kuzma, A.B. (A. B.), Sleegers, K. (K.), Vronskaya, M., Ruiz, A. (A.), Graham, R.R. (Robert), Olaso, R. (Robert), Hoffmann, P. (Per), Grove, M.L. (Megan), Vardarajan, B.N. (Badri), Hiltunen, M. (Mikko), Nöthen, M.M. (Markus), White, C.C. (Charles), Hamilton-Nelson, K.L. (K. L.), Epelbaum, J. (Jacques), Maier, W. (Wolfgang), Choi, S.H. (S. H.), Beecham, G.W., Dulary, C. (C.), Herms, S. (Stefan), Smith, A.V. (Albert), Funk, C.C. (C. C.), Derbois, (), Forstner, A.J. (Andreas), Ahmad, S. (S.), Li, H. (Huaixing), Bacq, D. (D.), Harold, D. (D.), Satizabal, C.L. (Claudia), Valladares, O. (Otto), Squassini, A. (Alessio), Thomas, R. (R.), Brody, J.A. (Jennifer A.), Qu, L. (Liming), Sanchez-Juan, P. (Pascual), Morgan, T. (Thomas), Wolters, F.J. (Frank), Zhao, Y. (Y.), Garcia, F.S. (F. S.), Denning, N. (Nicola), Fornage, M. (Myriam), Malamon, J. (J.), Naranjo, M.C.D. (M. C.D.), Majounie, E. (Elisa), Mosley, T.H. (Thomas H.), Dombroski, B. (B.), Wallon, D. (David), Lupton, M.K. (Michelle), Dupuis, J. (Josée), Whitehead, P. (P.), Fratiglioni, L. (L.), Medway, C. (Christopher), Jian, X. (X.), Mukherjee, S. (S.), Keller, L. (L.), Brown, K. (Kristelle), Lin, H. (Honghuang), Cantwell, L.B. (Laura B.), Panza, F. (F.), McGuinness, B. (B.), Moreno-Grau, S. (S.), Burgess, J.D. (J. D.), Solfrizzi, V. (Vincenzo), Proitsi, P. (P.), Adams, H.H.H. (Hieab), Allen, M. (M.), Seripa, D. (Davide), Pastor, P. (P.), Cupples, L.A. (L. A.), Price, N.D. (N. D.), Hannequin, D. (Didier), Frank-Garcia, A. (Ana), Levy, D. (D.), Chakrabarty, P. (P.), Caffarra, P. (Paolo), Giegling, I. (Ina), Beiser, A. (Alexa), Giedraitis, V. (Vilmantas), Hampel, H. (Heather), Garcia, M.E. (M.), Wang, X. (X.), Lannfelt, L. (Lars), Mecocci, P. (Patrizia), Eiriksdottir, G. (Gudny), Crane, L.M.A., Pasquier, F. (Florence), Boccardi, V. (V.), Henández, I. (I.), Barber, R.C. (R. C.), Scherer, M. (M.), Tárraga, L. (L.), Adams, P.M. (P. M.), Leber, I. (Isabelle), Chen, Y.D.I. (Yii-Der Ida), Albert, M. (Michael), Riedel-Heller, S. (Steffi), Emilsson, V. (Valur), Beekly, D. (D.), Braae, A. (A.), Schmidt, R. (R.), Blacker, D. (D.), Masullo, C., Schmidt, H. (Helena), Doody, R.S. (R. S.), Spalletta, G. (Gianfranco), Longstreth Jr, W.T., Fairchild, T.J. (T. J.), Bossù, P. (P.), Lopez, O.L. (Oscar), Frosch, M.P. (Matthew), Sacchinelli, E. (E.), Ghetti, B. (Bernardino), Yang, Q. (Qiong Fang), Huebinger, R.M. (R. M.), Jessen, F., Li, S. (S.), Kamboh, M.I. (M. I.), Morris, J. (J.), Sotolongo-Grau, O. (O.), Katz, M.J. (M. J.), Corcoran, C. (C.), Dunstan, M.L., Braddel, A. (A.), Thomas, C. (C.), Meggy, A. (A.), Marshall, R. (R.), Gerrish, A. (Amy), Chapman, J. (Jade), Aguilar, M. (M.), Taylor, S. (S.), Hill, M. (M.), Fairén, M.D. (M. D.), Hodges, A. (A.), Vellas, B. (B.), Soininen, H. (H.), Kloszewska, I. (Iwona), Daniilidou, M. (M.), Uphill, J. (James), Patel, Y. (Y.), Hughes, J.T. (J. T.), Lord, J. (J.), Turton, J.C. (James), Hartmann, A.M. (A. M.), Cecchetti, R. (R.), Fenoglio, C. (Chiara), Serpente, M. (Maria), Arcaro, M. (M.), Caltagirone, C. (C.), Orfei, M.D. (M. D.), Ciaramella, A. (A.), Pichler, I. (Irene), Mayhaus, M. (Manuel), Gu, W. (W.), Lleo, A. (Alberto), Fortea, J. (J.), Blesa, R. (Rafael), Barber, I.S. (I. S.), Brookes, K. (K.), Cupidi, C. (Chiara), Maletta, R. (Raffaele), Carrell, D. (D.), Sorbi, S. (Sandro), Moebus, S. (Susanne), Urbano, M. (M.), Pilotto, A. (Alberto), Kornhuber, J. (Johannes), Bosco, P. (Paolo), Todd, S. (S.), Craig, D. (D.), Johnston, J. (J.), Gill, M. (M.), Lawlor, B.A. (B.), Lynch, A. (Aoibhinn), Fox, N.C. (Nick), Hardy, J. (J.), Albin, R.L. (R. L.), Apostolova, L.G. (L. G.), Arnold, S.E. (Steven), Asthana, S. (S.), Atwood, C.S. (Craig), Baldwin, C. (Clinton), Barnes, L.L. (L. L.), Barral, S. (Sandra), Beach, T.G. (Thomas), Becker, J.T. (James), Bigio, E.H. (Eileen), Bird, T.D. (T. D.), Boeve, B.F. (Bradley), Bowen, J.D. (J. D.), Boxer, A.L. (Adam), Burke, J.R. (J. R.), Burns, J.M. (J. M.), Buxbaum, J.D. (J. D.), Cairns, N.J. (N. J.), Cao, C. (C.), Carlson, C. (Chris), Carlsson, C.M. (C. M.), Carney, R.M. (R. M.), Carrasquillo, M.M. (M. M.), Carroll, S.L. (Steven), Diaz, C.C. (C. C.), Chui, H.C. (H. C.), Clark, D.G. (D. G.), Cribbs, D.H. (D. H.), Crocco, E.A. (E. A.), DeCarli, C. (Charles), Dick, M. (M.), Duara, R. (R.), Evans, D.A. (D. A.), Faber, K.M. (Kelley), Fallon, K.B. (K. B.), Fardo, D.W. (D. W.), Farlow, M.R. (M. R.), Ferris, S. (S.), Foroud, T.M. (T. M.), Galasko, D.R. (D. R.), Gearing, M. (Marla), Geschwind, H., Gilbert, J.R. (John R.), Graff-Radford, N.R. (Neill), Green, R.C. (Robert), Growdon, J.H. (J. H.), Hamilton, R.L. (Ronald L.), Harrell, L.E. (L. E.), Honig, L.S. (L. S.), Huentelman, M.J. (M. J.), Hulette, C. (Christine), Hyman, B.T. (Bradley), Jarvik, G.P. (Gail), Abner, E. (E.), Jin, L.W. (L. W.), Jun, G. (G.), Karydas, A. (A.), Kaye, J.A. (Jeffrey), Kim, R. (R.), Kowall, N.W. (N. W.), Kramer, J.H. (Joel), LaFerla, F.M. (F. M.), Lah, J.J. (J. J.), Leverenz, J.B. (J. B.), Levey, A.I. (Allan), Li, G. (Guo), Lieberman, A.P. (A. P.), Lunetta, K.L. (Kathryn), Lyketsos, C.G. (C. G.), Marson, D.C. (D. C.), Martiniuk, F. (F.), Mash, D.C. (Deborah C.), Masliah, E. (Eliezer), McCormick, W.C. (W. C.), McCurry, S.M. (S. M.), McDavid, A.N. (A. N.), McKee, A.C. (A. C.), Mesulam, M. (Marsel), Miller, B.L. (Bruce Lars), Miller, C.A. (C. A.), Miller, J.W. (J. W.), Morris, H. (Huw), Myers, A.J. (Amanda J.), O'Bryant, S. (S.), Olichney, J.M. (J. M.), Pankratz, V.S. (Shane), Parisi, J.E. (Joseph), Paulson, H.L. (Henry), Perry, W. (W.), Peskind, E. (E.), Pierce, A. (A.), Poon, W.W. (W. W.), Potter, H. (H.), Quinn, J.F. (J. F.), Raj, A. (A.), Raskind, M. (M.), Reisberg, B. (B.), Reitz, C. (C.), Ringman, J.M. (J. M.), Roberson, E.D. (E. D.), Rogaeva, E. (Ekaterina), Rosen, H.J. (H. J.), Rosenberg, R.N. (Roger), Sager, M.A. (M. A.), Saykin, A.J. (Andrew), Schneider, J.A. (Julie), Schneider, L.S. (L. S.), Seeley, W.W. (W. W.), Smith, A.G. (A. G.), Sonnen, J.A. (J. A.), Spina, S. (S.), Stern, R.A. (R. A.), Swerdlow, R.H. (R. H.), Tanzi, R.E. (R. E.), Thornton-Wells, T.A. (Tricia), Trojanowski, J.Q. (J. Q.), Troncoso, J.C. (J. C.), Deerlin, V.M. (Vivianna), Van Eldik, L.J. (L. J.), Vinters, H.V. (Harry), Vonsattel, J.P. (Jean Paul), Weintraub, S. (Sandra), Welsh-Bohmer, K.A. (Kathleen), Wilhelmsen, K.C., Williamson, J. (J.), Wingo, T.S. (T. S.), Woltjer, R.L. (Randall), Wright, C.B. (Clinton B.), Yu, C.E. (C. E.), Yu, L. (L.), Garzia, F. (F.), Golamaully, F. (F.), Septier, G. (G.), Engelborghs, S. (Sebastiaan), Vandenberghe, R. (Rik), Deyn, P.P. (Peter) de, Fernadez, C.M. (C. M.), Benito, Y.A. (Y. A.), Thonberg, H. (Håkan), Forsell, C. (C.), Lilius, L. (Lena), Kinhult-Stählbom, A. (A.), Kilander, L. (L.), Brundin, R. (R.), Concari, L. (L.), Helisalmi, S. (S.), Koivisto, A.M. (A. M.), Haapasalo, A. (Annakaisa), Dermecourt, V. (V.), Fievet, N. (N.), Hanon, O. (Olivier), Dufouil, C. (Carole), Brice, A., Ritchie, K. (Karen), Dubois, B. (B.), Himali, J.J. (Jayandra), Keene, C.D. (C. D.), Tschanz, J. (J.), Fitzpatrick, A.L. (Annette), Kukull, W.A., Norton, M. (M.), Aspelund, T. (Thor), Larson, E.B. (Eric B.), Munger, R. (R.), Rotter, J.I. (Jerome I.), Lipton, R.B. (R. B.), Bullido, M.J. (Maria), Hofman, A. (A.), Montine, T.J. (T. J.), Coto, E. (Eliecer), Boerwinkle, E. (E.), Petersen, R.C. (R. C.), Alvarez, V. (V.), Rivadeneira Ramirez, F. (Fernando), Reiman, E.M. (Eric), Gallo, V. (Valentina), O'Donnell, C.J. (Christopher), Reisch, J.S. (J. S.), Bruni, A.C. (Amalia), Royall, D.R. (D. R.), Kubisch, C. (Christian), Sano, M. (M.), Galimberti, D. (Daniela), St. George-Hyslop, P. (Peter), Scarpini, E. (Elio), Tsuang, D.W. (Debby W.), Mancuso, M. (M.), Bonuccelli, U. (Ubaldo), Winslow, A.R. (A. R.), Daniele, A. (A.), Wu, C.K. (C. K.), Peters, O. (Oscar), Nacmias, B. (Benedetta), Riemenschneider, M. (M.), Heun, R. (Reinhard), Brayne, C. (Carol), Rubinsztein, D.C. (David), Bras, J. (J.), Guerreiro, R. (R.), Al-Chalabi, A. (Ammar), Shaw, C.E. (C. E.), Collinge, J. (J.), Mann, D. (D.), Tsolaki, M. (Magda), Clarimón, J. (J.), Sussams, R. (R.), Lovestone, S. (Simon), O'donovan, M.C. (Michael), Owen, M.J. (Michael), Behrens, T.W. (Timothy), Mead, S. (S.), Goate, A.M. (Alison), Uitterlinden, A.G. (A. G.), Holmes, C. (C.), Cruchaga, C. (Carlos), Ingelsson, M. (Martin), Bennett, D.A. (David), Powell, J. (J.), Golde, T.E. (T. E.), Graff, C. (C.), De Jager, P., Morgan, K. (Kevin), Ertekin-Taner, N. (N.), Combarros, O. (Onofre), Psaty, B.M. (Bruce), Passmore, P. (P.), Younkin, S.G. (S. G.), Berr, C. (Claudine), Gudnason, V. (Vilmundur), Rujescu, D. (D.), Dickson, D. (Dennis), Dartigues, J.-F., DeStefano, A.L. (Anita), Ortega-Cubero, S. (S.), Hakonarson, H. (Hakon), Campion, D. (Dominique), Boada, M. (M.), Kauwe, J.K. (J. K.), Farrer, L.A. (Lindsay), Broeckhoven, C. (Christine) van, Ikram, M.A. (Arfan), Jones, L. (L.), Haines, J.L. (Jonathan), Tzourio, C. (Christophe), Launer, L.J. (Lenore), Escott-Price, V. (V.), Mayeux, R. (R.), Deleuze, J.-F. (Jean-François), Amin, N. (Najaf), Holmans, P.A. (Peter A.), Kunkle, B. (Brian), Amouyel, P. (Philippe), Duijn, C.M. (Cornelia) van, Ramirez, A. (Alfredo), Wang, L.S. (L. S.), Lambert, J.-C. (J.), Seshadri, S. (Sudha), Williams, J. (J.), Schellenberg, G.D. (Gerard), Destefano, A.L. (Anita L.), Seshardi, S. (Sudha), Peloso, G.M. (Gina M.), Lee, S.J. (Sven) van der, Sims, R. (Rebecca), van der Lee, S.J. (S. J.), Naj, A.C. (A. C.), Bellenguez, C. (Céline), Badarinarayan, N. (Nandini), Jakobsdottir, M. (Margret), Kunkle, B.W. (B. W.), Boland, A. (A.), Raybould, R. (R.), Bis, J.C. (Joshua), Martin, E.R. (E. R.), Grenier-Boley, B. (Benjamin), Heilmann-Heimbach, S. (S.), Chouraki, V. (V.), Kuzma, A.B. (A. B.), Sleegers, K. (K.), Vronskaya, M., Ruiz, A. (A.), Graham, R.R. (Robert), Olaso, R. (Robert), Hoffmann, P. (Per), Grove, M.L. (Megan), Vardarajan, B.N. (Badri), Hiltunen, M. (Mikko), Nöthen, M.M. (Markus), White, C.C. (Charles), Hamilton-Nelson, K.L. (K. L.), Epelbaum, J. (Jacques), Maier, W. (Wolfgang), Choi, S.H. (S. H.), Beecham, G.W., Dulary, C. (C.), Herms, S. (Stefan), Smith, A.V. (Albert), Funk, C.C. (C. C.), Derbois, (), Forstner, A.J. (Andreas), Ahmad, S. (S.), Li, H. (Huaixing), Bacq, D. (D.), Harold, D. (D.), Satizabal, C.L. (Claudia), Valladares, O. (Otto), Squassini, A. (Alessio), Thomas, R. (R.), Brody, J.A. (Jennifer A.), Qu, L. (Liming), Sanchez-Juan, P. (Pascual), Morgan, T. (Thomas), Wolters, F.J. (Frank), Zhao, Y. (Y.), Garcia, F.S. (F. S.), Denning, N. (Nicola), Fornage, M. (Myriam), Malamon, J. (J.), Naranjo, M.C.D. (M. C.D.), Majounie, E. (Elisa), Mosley, T.H. (Thomas H.), Dombroski, B. (B.), Wallon, D. (David), Lupton, M.K. (Michelle), Dupuis, J. (Josée), Whitehead, P. (P.), Fratiglioni, L. (L.), Medway, C. (Christopher), Jian, X. (X.), Mukherjee, S. (S.), Keller, L. (L.), Brown, K. (Kristelle), Lin, H. (Honghuang), Cantwell, L.B. (Laura B.), Panza, F. (F.), McGuinness, B. (B.), Moreno-Grau, S. (S.), Burgess, J.D. (J. D.), Solfrizzi, V. (Vincenzo), Proitsi, P. (P.), Adams, H.H.H. (Hieab), Allen, M. (M.), Seripa, D. (Davide), Pastor, P. (P.), Cupples, L.A. (L. A.), Price, N.D. (N. D.), Hannequin, D. (Didier), Frank-Garcia, A. (Ana), Levy, D. (D.), Chakrabarty, P. (P.), Caffarra, P. (Paolo), Giegling, I. (Ina), Beiser, A. (Alexa), Giedraitis, V. (Vilmantas), Hampel, H. (Heather), Garcia, M.E. (M.), Wang, X. (X.), Lannfelt, L. (Lars), Mecocci, P. (Patrizia), Eiriksdottir, G. (Gudny), Crane, L.M.A., Pasquier, F. (Florence), Boccardi, V. (V.), Henández, I. (I.), Barber, R.C. (R. C.), Scherer, M. (M.), Tárraga, L. (L.), Adams, P.M. (P. M.), Leber, I. (Isabelle), Chen, Y.D.I. (Yii-Der Ida), Albert, M. (Michael), Riedel-Heller, S. (Steffi), Emilsson, V. (Valur), Beekly, D. (D.), Braae, A. (A.), Schmidt, R. (R.), Blacker, D. (D.), Masullo, C., Schmidt, H. (Helena), Doody, R.S. (R. S.), Spalletta, G. (Gianfranco), Longstreth Jr, W.T., Fairchild, T.J. (T. J.), Bossù, P. (P.), Lopez, O.L. (Oscar), Frosch, M.P. (Matthew), Sacchinelli, E. (E.), Ghetti, B. (Bernardino), Yang, Q. (Qiong Fang), Huebinger, R.M. (R. M.), Jessen, F., Li, S. (S.), Kamboh, M.I. (M. I.), Morris, J. (J.), Sotolongo-Grau, O. (O.), Katz, M.J. (M. J.), Corcoran, C. (C.), Dunstan, M.L., Braddel, A. (A.), Thomas, C. (C.), Meggy, A. (A.), Marshall, R. (R.), Gerrish, A. (Amy), Chapman, J. (Jade), Aguilar, M. (M.), Taylor, S. (S.), Hill, M. (M.), Fairén, M.D. (M. D.), Hodges, A. (A.), Vellas, B. (B.), Soininen, H. (H.), Kloszewska, I. (Iwona), Daniilidou, M. (M.), Uphill, J. (James), Patel, Y. (Y.), Hughes, J.T. (J. T.), Lord, J. (J.), Turton, J.C. (James), Hartmann, A.M. (A. M.), Cecchetti, R. (R.), Fenoglio, C. (Chiara), Serpente, M. (Maria), Arcaro, M. (M.), Caltagirone, C. (C.), Orfei, M.D. (M. D.), Ciaramella, A. (A.), Pichler, I. (Irene), Mayhaus, M. (Manuel), Gu, W. (W.), Lleo, A. (Alberto), Fortea, J. (J.), Blesa, R. (Rafael), Barber, I.S. (I. S.), Brookes, K. (K.), Cupidi, C. (Chiara), Maletta, R. (Raffaele), Carrell, D. (D.), Sorbi, S. (Sandro), Moebus, S. (Susanne), Urbano, M. (M.), Pilotto, A. (Alberto), Kornhuber, J. (Johannes), Bosco, P. (Paolo), Todd, S. (S.), Craig, D. (D.), Johnston, J. (J.), Gill, M. (M.), Lawlor, B.A. (B.), Lynch, A. (Aoibhinn), Fox, N.C. (Nick), Hardy, J. (J.), Albin, R.L. (R. L.), Apostolova, L.G. (L. G.), Arnold, S.E. (Steven), Asthana, S. (S.), Atwood, C.S. (Craig), Baldwin, C. (Clinton), Barnes, L.L. (L. L.), Barral, S. (Sandra), Beach, T.G. (Thomas), Becker, J.T. (James), Bigio, E.H. (Eileen), Bird, T.D. (T. D.), Boeve, B.F. (Bradley), Bowen, J.D. (J. D.), Boxer, A.L. (Adam), Burke, J.R. (J. R.), Burns, J.M. (J. M.), Buxbaum, J.D. (J. D.), Cairns, N.J. (N. J.), Cao, C. (C.), Carlson, C. (Chris), Carlsson, C.M. (C. M.), Carney, R.M. (R. M.), Carrasquillo, M.M. (M. M.), Carroll, S.L. (Steven), Diaz, C.C. (C. C.), Chui, H.C. (H. C.), Clark, D.G. (D. G.), Cribbs, D.H. (D. H.), Crocco, E.A. (E. A.), DeCarli, C. (Charles), Dick, M. (M.), Duara, R. (R.), Evans, D.A. (D. A.), Faber, K.M. (Kelley), Fallon, K.B. (K. B.), Fardo, D.W. (D. W.), Farlow, M.R. (M. R.), Ferris, S. (S.), Foroud, T.M. (T. M.), Galasko, D.R. (D. R.), Gearing, M. (Marla), Geschwind, H., Gilbert, J.R. (John R.), Graff-Radford, N.R. (Neill), Green, R.C. (Robert), Growdon, J.H. (J. H.), Hamilton, R.L. (Ronald L.), Harrell, L.E. (L. E.), Honig, L.S. (L. S.), Huentelman, M.J. (M. J.), Hulette, C. (Christine), Hyman, B.T. (Bradley), Jarvik, G.P. (Gail), Abner, E. (E.), Jin, L.W. (L. W.), Jun, G. (G.), Karydas, A. (A.), Kaye, J.A. (Jeffrey), Kim, R. (R.), Kowall, N.W. (N. W.), Kramer, J.H. (Joel), LaFerla, F.M. (F. M.), Lah, J.J. (J. J.), Leverenz, J.B. (J. B.), Levey, A.I. (Allan), Li, G. (Guo), Lieberman, A.P. (A. P.), Lunetta, K.L. (Kathryn), Lyketsos, C.G. (C. G.), Marson, D.C. (D. C.), Martiniuk, F. (F.), Mash, D.C. (Deborah C.), Masliah, E. (Eliezer), McCormick, W.C. (W. C.), McCurry, S.M. (S. M.), McDavid, A.N. (A. N.), McKee, A.C. (A. C.), Mesulam, M. (Marsel), Miller, B.L. (Bruce Lars), Miller, C.A. (C. A.), Miller, J.W. (J. W.), Morris, H. (Huw), Myers, A.J. (Amanda J.), O'Bryant, S. (S.), Olichney, J.M. (J. M.), Pankratz, V.S. (Shane), Parisi, J.E. (Joseph), Paulson, H.L. (Henry), Perry, W. (W.), Peskind, E. (E.), Pierce, A. (A.), Poon, W.W. (W. W.), Potter, H. (H.), Quinn, J.F. (J. F.), Raj, A. (A.), Raskind, M. (M.), Reisberg, B. (B.), Reitz, C. (C.), Ringman, J.M. (J. M.), Roberson, E.D. (E. D.), Rogaeva, E. (Ekaterina), Rosen, H.J. (H. J.), Rosenberg, R.N. (Roger), Sager, M.A. (M. A.), Saykin, A.J. (Andrew), Schneider, J.A. (Julie), Schneider, L.S. (L. S.), Seeley, W.W. (W. W.), Smith, A.G. (A. G.), Sonnen, J.A. (J. A.), Spina, S. (S.), Stern, R.A. (R. A.), Swerdlow, R.H. (R. H.), Tanzi, R.E. (R. E.), Thornton-Wells, T.A. (Tricia), Trojanowski, J.Q. (J. Q.), Troncoso, J.C. (J. C.), Deerlin, V.M. (Vivianna), Van Eldik, L.J. (L. J.), Vinters, H.V. (Harry), Vonsattel, J.P. (Jean Paul), Weintraub, S. (Sandra), Welsh-Bohmer, K.A. (Kathleen), Wilhelmsen, K.C., Williamson, J. (J.), Wingo, T.S. (T. S.), Woltjer, R.L. (Randall), Wright, C.B. (Clinton B.), Yu, C.E. (C. E.), Yu, L. (L.), Garzia, F. (F.), Golamaully, F. (F.), Septier, G. (G.), Engelborghs, S. (Sebastiaan), Vandenberghe, R. (Rik), Deyn, P.P. (Peter) de, Fernadez, C.M. (C. M.), Benito, Y.A. (Y. A.), Thonberg, H. (Håkan), Forsell, C. (C.), Lilius, L. (Lena), Kinhult-Stählbom, A. (A.), Kilander, L. (L.), Brundin, R. (R.), Concari, L. (L.), Helisalmi, S. (S.), Koivisto, A.M. (A. M.), Haapasalo, A. (Annakaisa), Dermecourt, V. (V.), Fievet, N. (N.), Hanon, O. (Olivier), Dufouil, C. (Carole), Brice, A., Ritchie, K. (Karen), Dubois, B. (B.), Himali, J.J. (Jayandra), Keene, C.D. (C. D.), Tschanz, J. (J.), Fitzpatrick, A.L. (Annette), Kukull, W.A., Norton, M. (M.), Aspelund, T. (Thor), Larson, E.B. (Eric B.), Munger, R. (R.), Rotter, J.I. (Jerome I.), Lipton, R.B. (R. B.), Bullido, M.J. (Maria), Hofman, A. (A.), Montine, T.J. (T. J.), Coto, E. (Eliecer), Boerwinkle, E. (E.), Petersen, R.C. (R. C.), Alvarez, V. (V.), Rivadeneira Ramirez, F. (Fernando), Reiman, E.M. (Eric), Gallo, V. (Valentina), O'Donnell, C.J. (Christopher), Reisch, J.S. (J. S.), Bruni, A.C. (Amalia), Royall, D.R. (D. R.), Kubisch, C. (Christian), Sano, M. (M.), Galimberti, D. (Daniela), St. George-Hyslop, P. (Peter), Scarpini, E. (Elio), Tsuang, D.W. (Debby W.), Mancuso, M. (M.), Bonuccelli, U. (Ubaldo), Winslow, A.R. (A. R.), Daniele, A. (A.), Wu, C.K. (C. K.), Peters, O. (Oscar), Nacmias, B. (Benedetta), Riemenschneider, M. (M.), Heun, R. (Reinhard), Brayne, C. (Carol), Rubinsztein, D.C. (David), Bras, J. (J.), Guerreiro, R. (R.), Al-Chalabi, A. (Ammar), Shaw, C.E. (C. E.), Collinge, J. (J.), Mann, D. (D.), Tsolaki, M. (Magda), Clarimón, J. (J.), Sussams, R. (R.), Lovestone, S. (Simon), O'donovan, M.C. (Michael), Owen, M.J. (Michael), Behrens, T.W. (Timothy), Mead, S. (S.), Goate, A.M. (Alison), Uitterlinden, A.G. (A. G.), Holmes, C. (C.), Cruchaga, C. (Carlos), Ingelsson, M. (Martin), Bennett, D.A. (David), Powell, J. (J.), Golde, T.E. (T. E.), Graff, C. (C.), De Jager, P., Morgan, K. (Kevin), Ertekin-Taner, N. (N.), Combarros, O. (Onofre), Psaty, B.M. (Bruce), Passmore, P. (P.), Younkin, S.G. (S. G.), Berr, C. (Claudine), Gudnason, V. (Vilmundur), Rujescu, D. (D.), Dickson, D. (Dennis), Dartigues, J.-F., DeStefano, A.L. (Anita), Ortega-Cubero, S. (S.), Hakonarson, H. (Hakon), Campion, D. (Dominique), Boada, M. (M.), Kauwe, J.K. (J. K.), Farrer, L.A. (Lindsay), Broeckhoven, C. (Christine) van, Ikram, M.A. (Arfan), Jones, L. (L.), Haines, J.L. (Jonathan), Tzourio, C. (Christophe), Launer, L.J. (Lenore), Escott-Price, V. (V.), Mayeux, R. (R.), Deleuze, J.-F. (Jean-François), Amin, N. (Najaf), Holmans, P.A. (Peter A.), Kunkle, B. (Brian), Amouyel, P. (Philippe), Duijn, C.M. (Cornelia) van, Ramirez, A. (Alfredo), Wang, L.S. (L. S.), Lambert, J.-C. (J.), Seshadri, S. (Sudha), Williams, J. (J.), Schellenberg, G.D. (Gerard), Destefano, A.L. (Anita L.), and Seshardi, S. (Sudha)
Abstract: Introduction: There is conflicting evidence whether high-density lipoprotein cholesterol (HDL-C) is a risk factor for Alzheimer's disease (AD) and dementia. Genetic variation in the cholesteryl ester transfer protein (CETP) locus is associated with altered HDL-C. We aimed to assess AD risk by genetically predicted HDL-C. Methods: Ten single nucleotide polymorphisms within the CETP locus predicting HDL-C were applied to the International Genomics of Alzheimer's Project (IGAP) exome chip stage 1 results in up 16,097 late onset AD cases and 18,077 cognitively normal elderly controls. We performed instrumental variables analysis using inverse variance weighting, weighted median, and MR-Egger. Results: Based on 10 single nucleotide polymorphisms distinctly predicting HDL-C in the CETP locus, we found that HDL-C was not associated with risk of AD (P >.7). Discussion: Our study does not support the role of HDL-C on risk of AD through HDL-C altered b
Published: 2018
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12. Mitochondrial dysfunction in fibroblasts of Multiple System Atrophy

Author: Monzio Compagnoni, G., Kleiner, G., Bordoni, A., Fortunato, F., Ronchi, D., Salani, S., Guida, M., Corti, C., Pichler, I., Bergamini, C., Fato, R., Pellecchia, M. T., Vallelunga, A., Del Sorbo, F., Elia, Antonio Emanuele, Reale, C., Garavaglia, B., Mora, G., Albanese, Alberto, Cogiamanian, F., Ardolino, G., Bresolin, N., Corti, S., Comi, G. P., Quinzii, C. M., Di Fonzo, A., Elia A., Albanese A. (ORCID:0000-0002-5864-0006), Monzio Compagnoni, G., Kleiner, G., Bordoni, A., Fortunato, F., Ronchi, D., Salani, S., Guida, M., Corti, C., Pichler, I., Bergamini, C., Fato, R., Pellecchia, M. T., Vallelunga, A., Del Sorbo, F., Elia, Antonio Emanuele, Reale, C., Garavaglia, B., Mora, G., Albanese, Alberto, Cogiamanian, F., Ardolino, G., Bresolin, N., Corti, S., Comi, G. P., Quinzii, C. M., Di Fonzo, A., Elia A., and Albanese A. (ORCID:0000-0002-5864-0006)
Abstract: Multiple System Atrophy is a severe neurodegenerative disorder which is characterized by a variable clinical presentation and a broad neuropathological spectrum. The pathogenic mechanisms are almost completely unknown. In the present study, we established a cellular model of MSA by using fibroblasts’ primary cultures and performed several experiments to investigate the causative mechanisms of the disease, with a particular focus on mitochondrial functioning. Fibroblasts’ analyses (7 MSA-P, 7 MSA-C and 6 healthy controls) displayed several anomalies in patients: an impairment of respiratory chain activity, in particular for succinate Coenzyme Q reductase (p < 0.05), and a reduction of complex II steady-state level (p < 0.01); a reduction of Coenzyme Q10 level (p < 0.001) and an up-regulation of some CoQ10 biosynthesis enzymes, namely COQ5 and COQ7; an impairment of mitophagy, demonstrated by a decreased reduction of mitochondrial markers after mitochondrial inner membrane depolarization (p < 0.05); a reduced basal autophagic activity, shown by a decreased level of LC3 II (p < 0.05); an increased mitochondrial mass in MSA-C, demonstrated by higher TOMM20 levels (p < 0.05) and suggested by a wide analysis of mitochondrial DNA content in blood of large cohorts of patients. The present study contributes to understand the causative mechanisms of Multiple System Atrophy. In particular, the observed impairment of respiratory chain activity, mitophagy and Coenzyme Q10 biosynthesis suggests that mitochondrial dysfunction plays a crucial role in the pathogenesis of the disease. Furthermore, these findings will hopefully contribute to identify novel therapeutic targets for this still incurable disorder.
Published: 2018

13. SLP-2 interacts with Parkin in mitochondria and prevents mitochondrial dysfunction in Parkin-deficient human iPSC-derived neurons and Drosophila

Author: Zanon, A, Kalvakuri, S, Rakovic, A, Foco, L, Guida, A, Schwienbacher, C, Serafin, A, Rudolf, F, Grünewald, Anne, Stanslowsky, N, Wegner, F, Giorgio, V, Lavdas, AA, Bodmer, R, Pramstaller, PP, Klein, C, Hicks, AA, Pichler, I, Seibler, P, Zanon, A, Kalvakuri, S, Rakovic, A, Foco, L, Guida, A, Schwienbacher, C, Serafin, A, Rudolf, F, Grünewald, Anne, Stanslowsky, N, Wegner, F, Giorgio, V, Lavdas, AA, Bodmer, R, Pramstaller, PP, Klein, C, Hicks, AA, Pichler, I, and Seibler, P
Abstract: Mutations in the Parkin gene (PARK2) have been linked to a recessive form of Parkinson's disease (PD) characterized by the loss of dopaminergic neurons in the substantia nigra. Deficiencies of mitochondrial respiratory chain complex I activity have been observed in the substantia nigra of PD patients, and loss of Parkin results in the reduction of complex I activity shown in various cell and animal models. Using co-immunoprecipitation and proximity ligation assays on endogenous proteins, we demonstrate that Parkin interacts with mitochondrial Stomatin-like protein 2 (SLP-2), which also binds the mitochondrial lipid cardiolipin and functions in the assembly of respiratory chain proteins. SH-SY5Y cells with a stable knockdown of Parkin or SLP-2, as well as induced pluripotent stem cell-derived neurons from Parkin mutation carriers, showed decreased complex I activity and altered mitochondrial network morphology. Importantly, induced expression of SLP-2 corrected for these mitochondrial alterations caused by reduced Parkin function in these cells. In-vivo Drosophila studies showed a genetic interaction of Parkin and SLP-2, and further, tissue-specific or global overexpression of SLP-2 transgenes rescued parkin mutant phenotypes, in particular loss of dopaminergic neurons, mitochondrial network structure, reduced ATP production, and flight and motor dysfunction. The physical and genetic interaction between Parkin and SLP-2 and the compensatory potential of SLP-2 suggest a functional epistatic relationship to Parkin and a protective role of SLP-2 in neurons. This finding places further emphasis on the significance of Parkin for the maintenance of mitochondrial function in neurons and provides a novel target for therapeutic strategies.
Published: 2017

14. DER EINFLUSS HELLROTER UND DUNKELROTER STRAHLUNG AUF DIE GEOTROPISCHE REAKTION DER KEIMLINGE VON SINAPIS ALBA L.

Author: Mohr, H. and Pichler, I.
Published: 1960

15. Serum iron level and kidney function: a Mendelian randomization study

Author: Del Greco M, F, Foco, L, Pichler, I, Eller, P, Eller, K, Benyamin, B, Whitfield, JB, Genetics of Iron Status Consortium, CKDGen Consortium, Pramstaller, PP, Thompson, JR, Pattaro, C, Minelli, C, Del Greco, Fabiola M, Foco, Luisa, Pichler, Irene, Eller, Philipp, Eller, Kathrin, Benyamin, Beben, Whitfield, John B, Pramstaller, Peter P, Thompson, John R, Pattaro, Cristian, Minelli, Cosetta, Genetics Iron Status Consortium, and CKDGen Consortium
Subjects: 0301 basic medicine, medicine.medical_specialty, Iron, Population, 030232 urology & nephrology, Renal function, 03 medical and health sciences, 0302 clinical medicine, iron, Risk Factors, Internal medicine, Mendelian randomization, medicine, Humans, Genetic Predisposition to Disease, Renal Insufficiency, Chronic, education, kidney function, Transplantation, education.field_of_study, glomerular filtration rate, biology, medicine.diagnostic_test, business.industry, Confounding, ferritin, 1103 Clinical Sciences, Urology & Nephrology, Mendelian Randomization Analysis, medicine.disease, Confidence interval, Ferritin, 030104 developmental biology, Endocrinology, Nephrology, biology.protein, Serum iron, business, chronic kidney disease, Kidney disease, Glomerular Filtration Rate
Abstract: Background: Iron depletion is a known consequence of chronic kidney disease (CKD), but there is contradicting epidemiological evidence on whether iron itself affects kidney function and whether its effect is protective or detrimental in the general population. While epidemiological studies tend to be affected by confounding and reverse causation, Mendelian randomization (MR) can provide unconfounded estimates of causal effects by using genes as instruments. Methods: We performed an MR study of the effect of serum iron levels on estimated glomerular filtration rate (EGFR), using genetic variants known to be associated with iron.MR estimates of the effect of iron on EGFR were derived based on the association of each variant with iron and EGFR from two large genome-wide meta-analyses on 48 978 and 74 354 individuals. We performed a similar MR analysis for ferritin, which measures iron stored in the body, using variants associated with ferritin. Results: A combined MR estimate across all variants showed a 1.3% increase in EGFR per standard deviation increase in iron (95% confidence interval 0.4-2.1%; P = 0.004). The results for ferritin were consistent with those for iron. Secondary MR analyses of the effects of iron and ferritin on CKD did not show significant associations but had very low statistical power. Conclusions: Our study suggests a protective effect of iron on kidney function in the general population. Further research is required to confirm this causal association, investigate it in study populations at higher risk of CKD and explore its underlyingmechanismof action. Refereed/Peer-reviewed
Published: 2016

16. Serum iron levels and the risk of Parkinson Disease: a Mendelian randomization study

Author: Pichler I, Del Greco M. F, Gögele M, Lill CM, Bertram L, Do CB, Eriksson N, Foroud T, Myers RH, PD GWAS Consortium, Nalls M, Keller MF, International Parkinson's Disease Genomics Consortium, Wellcome Trust Case Control Consortium 2, Benyamin B, Whitfield JB, Genetics of Iron Status Consortium, Pramstaller PP, Hicks AA, Thompson JR, Minelli C., Plagnol V, Hernandez DG, Sharma M, Sheerin UM, Saad M, Simón Sánchez J, Schulte C, Lesage S, Arepalli S, Barker R, Ben Shlomo Y, Berendse HW, Berg D, Bhatia K, de Bie RM, Biffi A, Bloem B, Bochdanovits Z, Bonin M, Bras JM, Brockmann K, Brooks J, Burn DJ, Charlesworth G, Chen H, Chinnery PF, Chong S, Clarke CE, Cookson MR, Cooper JM, Corvol JC, Counsell C, Damier P, Dartigues JF, Deloukas P, Deuschl G, Dexter DT, van Dijk KD, Dillman A, Durif F, Dürr A, Edkins S, Evans JR, Foltynie T, Gao J, Gardner M, Gibbs JR, Goate A, Gray E, Guerreiro R, Harris C, van Hilten JJ, Hofman A, Hollenbeck A, Holton J, Hu M, Huang X, Huber H, Hudson G, Hunt SE, Illig T, Lambert JC, Langford C, Lees A, Lichtner P, Limousin P, Lopez G, Lorenz D, McNeill A, Moorby C, Moore M, Morris HR, Morrison KE, Mudanohwo E, O'Sullivan SS, Pearson J, Perlmutter JS, Pollak P, Post B, Potter S, Ravina B, Revesz T, Riess O, Rivadeneira F, Rizzu P, Ryten M, Sawcer S, Schapira A, Scheffer H, Shaw K, Shoulson I, Sidransky E, Smith C, Spencer CC, Stockton JD, Strange A, Talbot K, Tanner CM, Tashakkori Ghanbaria A, Trabzuni D, Traynor BJ, Uitterlinden AG, Velseboer D, Vidailhet M, Walker R, van de Warrenburg B, Wickremaratchi M, Williams N, Williams Gray CH, Winder Rhodes S, Martinez M, Hardy J, Heutink P, Brice A, Gasser T, Singleton AB, Wood NW, Donnelly P, Barroso I, Blackwell JM, Bramon E, Brown MA, Casas JP, Corvin A, Duncanson A, Jankowski J, Markus HS, Mathew CG, Palmer CN, Plomin R, Rautanen A, Sawcer SJ, Trembath RC, Viswanathan AC, Band G, Bellenguez C, Freeman C, Hellenthal G, Giannoulatou E, Pirinen M, Pearson R, Su Z, Vukcevic D, Gwilliam R, Blackburn H, Bumpstead SJ, Dronov S, Gillman M, Hammond N, Jayakumar A, McCann OT, Liddle J, Potter SC, Ravindrarajah R, Ricketts M, Waller M, Weston P, Widaa S, Whittaker P, McCarthy MI, Ouwehand WH, Radhakrishnan A, Sambrook J, Toniolo D, Camaschella C, Metspalu A, Esko T, Gieger C, Ried J, Meitinger T, Oexle K, Winkelmann J, Swinkels D, Vermeulen S, van Duijn C, Broer L, Beilby J, Hui J, Anderson D, Visscher P, Martin N., TRAGLIA, MICHELA, Pichler, Irene, Del Greco M, Fabiola, Gögele, Martin, Lill, Christina M, Benyamin, Beben, Minelli, Cosetta, PD GWAS Consortium, International Parkinson’s Disease Genomics Consortium, Wellcome Trust Case Control Consortium, Genetics of Iron Status Consortium, Pollak, Pierre, Functional Genomics, Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease, Human genetics, NCA - Brain mechanisms in health and disease, ANS - Amsterdam Neuroscience, Neurology, Graduate School, Pichler, I, Del Greco M., F, Gögele, M, Lill, Cm, Bertram, L, Do, Cb, Eriksson, N, Foroud, T, Myers, Rh, PD GWAS, Consortium, Nalls, M, Keller, Mf, International Parkinson's Disease Genomics, Consortium, Wellcome Trust Case Control Consortium, 2, Benyamin, B, Whitfield, Jb, Genetics of Iron Status, Consortium, Pramstaller, Pp, Hicks, Aa, Thompson, Jr, Minelli, C., Plagnol, V, Hernandez, Dg, Sharma, M, Sheerin, Um, Saad, M, Simón Sánchez, J, Schulte, C, Lesage, S, Arepalli, S, Barker, R, Ben Shlomo, Y, Berendse, Hw, Berg, D, Bhatia, K, de Bie, Rm, Biffi, A, Bloem, B, Bochdanovits, Z, Bonin, M, Bras, Jm, Brockmann, K, Brooks, J, Burn, Dj, Charlesworth, G, Chen, H, Chinnery, Pf, Chong, S, Clarke, Ce, Cookson, Mr, Cooper, Jm, Corvol, Jc, Counsell, C, Damier, P, Dartigues, Jf, Deloukas, P, Deuschl, G, Dexter, Dt, van Dijk, Kd, Dillman, A, Durif, F, Dürr, A, Edkins, S, Evans, Jr, Foltynie, T, Gao, J, Gardner, M, Gibbs, Jr, Goate, A, Gray, E, Guerreiro, R, Harris, C, van Hilten, Jj, Hofman, A, Hollenbeck, A, Holton, J, Hu, M, Huang, X, Huber, H, Hudson, G, Hunt, Se, Illig, T, Lambert, Jc, Langford, C, Lees, A, Lichtner, P, Limousin, P, Lopez, G, Lorenz, D, Mcneill, A, Moorby, C, Moore, M, Morris, Hr, Morrison, Ke, Mudanohwo, E, O'Sullivan, S, Pearson, J, Perlmutter, J, Pollak, P, Post, B, Potter, S, Ravina, B, Revesz, T, Riess, O, Rivadeneira, F, Rizzu, P, Ryten, M, Sawcer, S, Schapira, A, Scheffer, H, Shaw, K, Shoulson, I, Sidransky, E, Smith, C, Spencer, Cc, Stockton, Jd, Strange, A, Talbot, K, Tanner, Cm, Tashakkori Ghanbaria, A, Trabzuni, D, Traynor, Bj, Uitterlinden, Ag, Velseboer, D, Vidailhet, M, Walker, R, van de Warrenburg, B, Wickremaratchi, M, Williams, N, Williams Gray, Ch, Winder Rhodes, S, Martinez, M, Hardy, J, Heutink, P, Brice, A, Gasser, T, Singleton, Ab, Wood, Nw, Donnelly, P, Barroso, I, Blackwell, Jm, Bramon, E, Brown, Ma, Casas, Jp, Corvin, A, Duncanson, A, Jankowski, J, Markus, H, Mathew, Cg, Palmer, Cn, Plomin, R, Rautanen, A, Sawcer, Sj, Trembath, Rc, Viswanathan, Ac, Band, G, Bellenguez, C, Freeman, C, Hellenthal, G, Giannoulatou, E, Pirinen, M, Pearson, R, Su, Z, Vukcevic, D, Gwilliam, R, Blackburn, H, Bumpstead, Sj, Dronov, S, Gillman, M, Hammond, N, Jayakumar, A, Mccann, Ot, Liddle, J, Potter, Sc, Ravindrarajah, R, Ricketts, M, Waller, M, Weston, P, Widaa, S, Whittaker, P, Mccarthy, Mi, Ouwehand, Wh, Radhakrishnan, A, Sambrook, J, Toniolo, D, Traglia, Michela, Camaschella, C, Metspalu, A, Esko, T, Gieger, C, Ried, J, Meitinger, T, Oexle, K, Winkelmann, J, Swinkels, D, Vermeulen, S, van Duijn, C, Broer, L, Beilby, J, Hui, J, Anderson, D, Visscher, P, and Martin, N.
Subjects: Relative risk reduction, Iron, Mendelian randomization analysis, Physiology, Genome-wide association study, Biology, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, SDG 17 - Partnerships for the Goals, Risk Factors, Mendelian randomization, medicine, Humans, Genetic Predisposition to Disease, Iron/blood, Genetic Association Studies, 030304 developmental biology, 0303 health sciences, medicine.diagnostic_test, Parkinson Disease/blood/genetics, Confounding, Parkinson Disease, Mendelian Randomization Analysis, General Medicine, Iron metabolism, 3. Good health, ddc:616.8, Parkinson disease, Meta-analysis, Hereditary hemochromatosis, Serum iron, Medicine, 030217 neurology & neurosurgery, Research Article
Abstract: In this study, Mendelian randomization was used to study genes known to modify iron levels, and the effect of iron on Parkinson's disease (PD) risk was estimated. Based on estimates of the genetic effects on both iron and PD obtained from the largest sample meta-analyzed to date, the findings suggest that increased iron levels in the blood are associated with a 3% reduction in the risk of Parkinson's disease for every 10 µg/dL increase in iron. The results of this analysis have potentially important implications for future research into the prevention of Parkinson's disease. Please see later in the article for the Editors' Summary, Background Although levels of iron are known to be increased in the brains of patients with Parkinson disease (PD), epidemiological evidence on a possible effect of iron blood levels on PD risk is inconclusive, with effects reported in opposite directions. Epidemiological studies suffer from problems of confounding and reverse causation, and mendelian randomization (MR) represents an alternative approach to provide unconfounded estimates of the effects of biomarkers on disease. We performed a MR study where genes known to modify iron levels were used as instruments to estimate the effect of iron on PD risk, based on estimates of the genetic effects on both iron and PD obtained from the largest sample meta-analyzed to date. Methods and Findings We used as instrumental variables three genetic variants influencing iron levels, HFE rs1800562, HFE rs1799945, and TMPRSS6 rs855791. Estimates of their effect on serum iron were based on a recent genome-wide meta-analysis of 21,567 individuals, while estimates of their effect on PD risk were obtained through meta-analysis of genome-wide and candidate gene studies with 20,809 PD cases and 88,892 controls. Separate MR estimates of the effect of iron on PD were obtained for each variant and pooled by meta-analysis. We investigated heterogeneity across the three estimates as an indication of possible pleiotropy and found no evidence of it. The combined MR estimate showed a statistically significant protective effect of iron, with a relative risk reduction for PD of 3% (95% CI 1%–6%; p = 0.001) per 10 µg/dl increase in serum iron. Conclusions Our study suggests that increased iron levels are causally associated with a decreased risk of developing PD. Further studies are needed to understand the pathophysiological mechanism of action of serum iron on PD risk before recommendations can be made. Please see later in the article for the Editors' Summary, Editors' Summary Background Parkinson disease is a degenerative disorder of the central nervous system caused by the death of dopamine-generating cells in the substania nigra, a region of the midbrain. The earliest symptoms are usually movement-related and include tremor, slow movements, and difficulty walking, and later cognitive and behavioral problems may arise, with dementia commonly occurring in the advanced stages of the disease. Parkinson disease affects around ten million people world-wide and incidence increases with age, with men more affected than women. To date, the causes of Parkinson disease remain unknown although a combination of genetic and environmental factors is thought to play a role. Identifying possible modifiable risks is an important step in the possible prevention of Parkinson disease. Why Was This Study Done? Previous studies have shown a possible association between lower blood levels of iron in people with Parkinson disease compared with controls, although the quality of these studies makes this finding difficult to interpret. So in this study, the researchers used a mendelian randomization approach to investigate whether there was any evidence of an effect of blood iron levels on the risk of Parkinson disease and if so to further explore the direction and scale of any link. Mendelian randomization is a method of using measured variation in genes of known function to examine the causal effect of a modifiable exposure on disease in situations where it is inappropriate to perform a randomized controlled trial. What Did the Researchers Do and Find? The researchers estimated the effect of blood iron levels on the risk of Parkinson disease using three polymorphisms in two genes, HFE and TMPRSS6. For each polymorphism, they performed a meta-analysis combining the results of studies investigating the genetic effect on iron levels, which included almost 22,000 people from Europe and Australia, and a meta-analysis of studies investigating the genetic effect on the risk of Parkinson disease, which included a total of 20,809 people with Parkinson disease and 88,892 controls from Europe and North America. They then performed three separate mendelian randomization analyses to estimate the effect of iron on Parkinson disease for the three polymorphisms. By combining the three estimates, they obtained a statistically significant odds ratio of 0.97 for Parkinson disease per 10 µg/dl increase in iron, corresponding to a 3% reduction in the risk of Parkinson disease for every 10 µg/dl increase in blood iron. Since genotype influences on blood iron levels represent differences that generally persist throughout adult life, the combined mendelian randomization estimate reflects an effect of iron over the course of a lifetime. What Do These Findings Mean? These findings suggest that increased iron levels in the blood are associated with a 3% reduction in the risk of Parkinson disease for every 10 µg/dl increase in iron. This finding is important as it suggests that increased blood iron levels may have a protective effect against Parkinson disease, although the underlying mechanism remains unclear. Furthermore, although mendelian randomization is an increasingly used approach to address the issue of classical confounding, there may be remaining confounding factors specific of mendelian randomization that may influence the interpretation of this study. Nevertheless, the results of this analysis have potentially important implications for future research into the prevention of Parkinson disease. Further studies on the underlying mechanisms are needed before any specific treatment recommendations can be proposed. Additional Information Please access these Web sites via the online version of this summary at http://dx.doi.org/10.1371/journal.pmed.1001462. The National Institutes of Neurological Disorder and Stroke, MedlinePlus, and NHS Choices have several pages with comprehensive information on Parkinson disease Wikipedia gives an explanation of mendelian randomization (note that Wikipedia is a free online encyclopedia that anyone can edit; available in several languages)
Published: 2013

17. Restless-Legs-Syndrom in einer großen Familie (Familie LA) mit Parkin-assoziertem Parkinson-Syndrom

Author: Maniak, S, Kabakci, K, Pichler, I, Hedrich, K, Kramer, P, Pramstaller, P, and Klein, C
Published: 2024
Full Text: View/download PDF

18. A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape

Author: Ried, J.S. (Janina), Jeff, J. (Janina), Chu, A.Y. (Audrey Y), Bragg-Gresham, J.L. (Jennifer L.), Dongen, J. (Jenny) van, Huffman, J.E. (Jennifer), Ahluwalia, T.S. (Tarunveer Singh), Cadby, G. (Gemma), Eklund, N. (Niina), Eriksson, J. (Joel), Esko, T. (Tõnu), Feitosa, M.F. (Mary Furlan), Goel, A. (Anuj), Gorski, M. (Mathias), Hayward, C. (Caroline), Heard-Costa, N.L. (Nancy), Jackson, A.U. (Anne), Jokinen, E. (Eero), Kanoni, S. (Stavroula), Kristiansson, K. (Kati), Kutalik, Z. (Zoltán), Lahti, J. (Jari), Luan, J. (Jian'An), Mägi, R. (Reedik), Mahajan, A. (Anubha), Mangino, M. (Massimo), Medina-Gomez, M.C. (Carolina), Monda, K.L. (Keri), Nolte, I.M. (Ilja), Perusse, L. (Louis), Prokopenko, I. (Inga), Qi, L. (Lu), Rose, L.M. (Lynda), Salvi, E. (Erika), Smith, M.T. (Megan T.), Snieder, H. (Harold), Standáková, A. (Alena), Ju Sung, Y. (Yun), Tachmazidou, I. (Ioanna), Teumer, A. (Alexander), Thorleifsson, G. (Gudmar), Harst, P. (Pim) van der, Walker, R.W. (Ryan W.), Wang, S.R. (Sophie), Wild, S.H. (Sarah), Willems, S.M. (Sara), Wong, A. (Andrew), Zhang, W. (Weihua), Albrecht, E. (Eva), Couto-Alves, A. (Alexessander), Bakker, S.J.L. (Stephan), Barlassina, C. (Cristina), Bartz, T.M. (Traci M.), Beilby, J.P. (John), Bellis, C. (Claire), Bergman, R.N. (Richard N.), Bergmann, S.M. (Sven), Blangero, J. (John), Blüher, M. (Matthias), Boerwinkle, E.A. (Eric), Bonnycastle, L.L. (Lori), Bornstein, S.R. (Stefan R.), Bruinenberg, M. (M.), Campbell, H. (Harry), Chen, Y.-D.I. (Yii-Der Ida), Chiang, C.W.K. (Charleston W. K.), Chines, P.S. (Peter), Collins, F.S. (Francis), Cucca, F. (Fracensco), Cupples, L.A. (Adrienne), D'avila, F. (Francesca), Geus, E.J.C. (Eco) de, Dedoussis, G.V. (George), Dimitriou, M. (Maria), Döring, A. (Angela), Hagen, K. (Knut), Farmaki, A.-E. (Aliki-Eleni), Farrall, M. (Martin), Ferreira, T. (Teresa), Fischer, K. (Krista), Forouhi, N.G. (Nita), Friedrich, N. (Nele), Gjesing, A.P. (Anette), Glorioso, N. (Nicola), Graff, M.J. (Maud J.L.), Grallert, H. (Harald), Grarup, N. (Niels), Gräßler, J. (Jürgen), Grewal, J. (Jagvir), Hamsten, A. (Anders), Harder, M.N. (Marie Neergaard), Hartman, C.A. (Catharina A.), Hassinen, M. (Maija), Hastie, N. (Nick), Hattersley, A.T. (Andrew), Havulinna, A.S. (Aki), Heliovaara, M. (Markku), Hillege, H.L. (Hans), Hofman, A. (Albert), Holmen, O.L. (Oddgeir), Homuth, G. (Georg), Hottenga, J.J. (Jouke Jan), Hui, J. (Jennie), Husemoen, L.L.N. (Lise Lotte), Hysi, P.G. (Pirro), Isaacs, A.J. (Aaron), Ittermann, T. (Till), Jalilzadeh, S. (Shapour), James, A. (Alan), Jorgensen, T. (Torben), Jousilahti, P. (Pekka), Jula, A. (Antti), Marie Justesen, J. (Johanne), Justice, A.E. (Anne), Kähönen, M. (Mika), Karaleftheri, M. (Maria), Tee Khaw, K. (Kay), Keinanen-Kiukaanniemi, S. (Sirkka), Kinnunen, L. (Leena), Knekt, P., Koistinen, H. (Heikki), Kolcic, I. (Ivana), Kooner, I.K. (Ishminder K.), Koskinen, S. (Seppo), Kovacs, P. (Peter), Kyriakou, T. (Theodosios), Laitinen, T. (Tomi), Langenberg, C. (Claudia), Lewin, A. (Alex), Lichtner, P. (Peter), Lindgren, C.M. (Cecilia), Lindström, J. (Jaana), Linneberg, A. (Allan), Lorbeer, R. (Roberto), Lorentzon, M. (Mattias), Luben, R.N. (Robert), Lyssenko, V. (Valeriya), Männistö, S. (Satu), Manunta, P. (Paolo), Leach, I.M. (Irene Mateo), McArdle, W.L. (Wendy), Mcknight, B. (Barbara), Mohlke, K.L. (Karen), Mihailov, E. (Evelin), Milani, L. (Lili), Mills, R. (Rebecca), Montasser, M.E. (May E.), Morris, A.P. (Andrew), Müller, G. (Gabriele), Musk, A.W. (Arthur W.), Narisu, N. (Narisu), Ong, K.K. (Ken K.), Oostra, B.A. (Ben), Osmond, C. (Clive), Palotie, A. (Aarno), Pankow, J.S. (James), Paternoster, L. (Lavinia), Penninx, B.W.J.H. (Brenda), Pichler, I. (Irene), Pilia, M.G. (Maria Grazia), Polasek, O. (Ozren), Pramstaller, P.P. (Peter Paul), Raitakari, O.T. (Olli T.), Rankinen, T. (Tuomo), Rao, D.C., Rayner, N.W. (Nigel William), Ribel-Madsen, R. (Rasmus), Rice, T.K. (Treva K.), Richards, M. (Marcus), Ridker, P.M. (Paul), Rivadeneira Ramirez, F. (Fernando), Ryan, K.A. (Kathy A.), Sanna, S. (Serena), Sarzynski, M.A. (Mark A.), Scholtens, S. (Salome), Scott, R.A. (Robert), Sebert, S. (Sylvain), Southam, L. (Lorraine), Sparsø, T. (Thomas), Steinthorsdottir, V. (Valgerdur), Stirrups, K. (Kathy), Stolk, R.P. (Ronald), Strauch, K. (Konstantin), Stringham, H.M. (Heather), Swertz, M. (Morris), Swift, A.J. (Amy), Tönjes, A. (Anke), Tsafantakis, E. (Emmanouil), Most, P.J. (Peter) van der, Vliet-Ostaptchouk, J.V. (Jana) van, Vandenput, L. (Liesbeth), Vartiainen, E. (Erkki), Venturini, C. (Cristina), Verweij, N. (Niek), Viikari, J. (Jorma), Vitart, V. (Veronique), Vohl, M.-C. (Marie-Claude), Vonk, J.M. (Judith), Waeber, G. (Gérard), Widen, E. (Elisabeth), Willemsen, G.A.H.M. (Gonneke), Wilsgaard, T. (Tom), Winkler, T.W. (Thomas W.), Wright, A.F. (Alan), Yerges-Armstrong, L.M. (Laura), Zhao, J.H. (Jing Hua), Zillikens, M.C. (Carola), Boomsma, D.I. (Dorret), Bouchard, C. (Claude), Chambers, J.C. (John), Chasman, D.I. (Daniel), Cusi, D. (Daniele), Gansevoort, R.T. (Ron), Gieger, C. (Christian), Hansen, T. (T.), Hicks, A.A. (Andrew), Hu, F. (Frank), Hveem, K. (Kristian), Jarvelin, M.-R. (Marjo-Riitta), Kajantie, E. (Eero), Kooner, J.S. (Jaspal S.), Kuh, D. (Diana), Kuusisto, J. (Johanna), Laakso, M. (Markku), Lakka, T.A. (Timo), Lehtimäki, T. (Terho), Metspalu, A. (Andres), Njølstad, I. (Inger), Ohlsson, C. (Claes), Oldehinkel, A.J. (Albertine), Palmer, L.J. (Lyle J.), Pedersen, O. (Oluf), Perola, M. (Markus), Peters, A. (Annette), Psaty, B.M. (Bruce), Puolijoki, H. (Hannu), Rauramaa, R. (Rainer), Rudan, I. (Igor), Salomaa, V. (Veikko), Schwarz, P.E.H. (Peter), Shudiner, A.R. (Alan R.), Smit, J.H. (Jan), Sørensen, T.I.A. (Thorkild), Spector, T.D. (Timothy), Zwart, J-A. (John-Anker), Stumvoll, M. (Michael), Tremblay, A. (Angelo), Tuomilehto, J. (Jaakko), Uitterlinden, A.G. (André), Uusitupa, M. (Matti), Völker, U. (Uwe), Vollenweider, P. (Peter), Wareham, N.J. (Nick), Watkins, H. (Hugh), Wilson, J.F. (James), Zeggini, E. (Eleftheria), Abecasis, G.R. (Gonçalo), Boehnke, M. (Michael), Borecki, I.B. (Ingrid), Deloukas, P. (Panagiotis), Duijn, C.M. (Cornelia) van, Fox, C.S. (Caroline), Groop, L. (Leif), Heid, I.M. (Iris), Hunter, D.J. (David J.), Kaplan, R.C. (Robert), McCarthy, M.I. (Mark), North, K.E. (Kari), O´Connell, J.R., Schlessinger, D. (David), Thorsteinsdottir, U. (Unnur), Strachan, D.P. (David), Frayling, T.M. (Timothy), Hirschhorn, J.N. (Joel), Müller-Nurasyid, M. (Martina), Loos, R.J.F. (Ruth), Ried, J.S. (Janina), Jeff, J. (Janina), Chu, A.Y. (Audrey Y), Bragg-Gresham, J.L. (Jennifer L.), Dongen, J. (Jenny) van, Huffman, J.E. (Jennifer), Ahluwalia, T.S. (Tarunveer Singh), Cadby, G. (Gemma), Eklund, N. (Niina), Eriksson, J. (Joel), Esko, T. (Tõnu), Feitosa, M.F. (Mary Furlan), Goel, A. (Anuj), Gorski, M. (Mathias), Hayward, C. (Caroline), Heard-Costa, N.L. (Nancy), Jackson, A.U. (Anne), Jokinen, E. (Eero), Kanoni, S. (Stavroula), Kristiansson, K. (Kati), Kutalik, Z. (Zoltán), Lahti, J. (Jari), Luan, J. (Jian'An), Mägi, R. (Reedik), Mahajan, A. (Anubha), Mangino, M. (Massimo), Medina-Gomez, M.C. (Carolina), Monda, K.L. (Keri), Nolte, I.M. (Ilja), Perusse, L. (Louis), Prokopenko, I. (Inga), Qi, L. (Lu), Rose, L.M. (Lynda), Salvi, E. (Erika), Smith, M.T. (Megan T.), Snieder, H. (Harold), Standáková, A. (Alena), Ju Sung, Y. (Yun), Tachmazidou, I. (Ioanna), Teumer, A. (Alexander), Thorleifsson, G. (Gudmar), Harst, P. (Pim) van der, Walker, R.W. (Ryan W.), Wang, S.R. (Sophie), Wild, S.H. (Sarah), Willems, S.M. (Sara), Wong, A. (Andrew), Zhang, W. (Weihua), Albrecht, E. (Eva), Couto-Alves, A. (Alexessander), Bakker, S.J.L. (Stephan), Barlassina, C. (Cristina), Bartz, T.M. (Traci M.), Beilby, J.P. (John), Bellis, C. (Claire), Bergman, R.N. (Richard N.), Bergmann, S.M. (Sven), Blangero, J. (John), Blüher, M. (Matthias), Boerwinkle, E.A. (Eric), Bonnycastle, L.L. (Lori), Bornstein, S.R. (Stefan R.), Bruinenberg, M. (M.), Campbell, H. (Harry), Chen, Y.-D.I. (Yii-Der Ida), Chiang, C.W.K. (Charleston W. K.), Chines, P.S. (Peter), Collins, F.S. (Francis), Cucca, F. (Fracensco), Cupples, L.A. (Adrienne), D'avila, F. (Francesca), Geus, E.J.C. (Eco) de, Dedoussis, G.V. (George), Dimitriou, M. (Maria), Döring, A. (Angela), Hagen, K. (Knut), Farmaki, A.-E. (Aliki-Eleni), Farrall, M. (Martin), Ferreira, T. (Teresa), Fischer, K. (Krista), Forouhi, N.G. (Nita), Friedrich, N. (Nele), Gjesing, A.P. (Anette), Glorioso, N. (Nicola), Graff, M.J. (Maud J.L.), Grallert, H. (Harald), Grarup, N. (Niels), Gräßler, J. (Jürgen), Grewal, J. (Jagvir), Hamsten, A. (Anders), Harder, M.N. (Marie Neergaard), Hartman, C.A. (Catharina A.), Hassinen, M. (Maija), Hastie, N. (Nick), Hattersley, A.T. (Andrew), Havulinna, A.S. (Aki), Heliovaara, M. (Markku), Hillege, H.L. (Hans), Hofman, A. (Albert), Holmen, O.L. (Oddgeir), Homuth, G. (Georg), Hottenga, J.J. (Jouke Jan), Hui, J. (Jennie), Husemoen, L.L.N. (Lise Lotte), Hysi, P.G. (Pirro), Isaacs, A.J. (Aaron), Ittermann, T. (Till), Jalilzadeh, S. (Shapour), James, A. (Alan), Jorgensen, T. (Torben), Jousilahti, P. (Pekka), Jula, A. (Antti), Marie Justesen, J. (Johanne), Justice, A.E. (Anne), Kähönen, M. (Mika), Karaleftheri, M. (Maria), Tee Khaw, K. (Kay), Keinanen-Kiukaanniemi, S. (Sirkka), Kinnunen, L. (Leena), Knekt, P., Koistinen, H. (Heikki), Kolcic, I. (Ivana), Kooner, I.K. (Ishminder K.), Koskinen, S. (Seppo), Kovacs, P. (Peter), Kyriakou, T. (Theodosios), Laitinen, T. (Tomi), Langenberg, C. (Claudia), Lewin, A. (Alex), Lichtner, P. (Peter), Lindgren, C.M. (Cecilia), Lindström, J. (Jaana), Linneberg, A. (Allan), Lorbeer, R. (Roberto), Lorentzon, M. (Mattias), Luben, R.N. (Robert), Lyssenko, V. (Valeriya), Männistö, S. (Satu), Manunta, P. (Paolo), Leach, I.M. (Irene Mateo), McArdle, W.L. (Wendy), Mcknight, B. (Barbara), Mohlke, K.L. (Karen), Mihailov, E. (Evelin), Milani, L. (Lili), Mills, R. (Rebecca), Montasser, M.E. (May E.), Morris, A.P. (Andrew), Müller, G. (Gabriele), Musk, A.W. (Arthur W.), Narisu, N. (Narisu), Ong, K.K. (Ken K.), Oostra, B.A. (Ben), Osmond, C. (Clive), Palotie, A. (Aarno), Pankow, J.S. (James), Paternoster, L. (Lavinia), Penninx, B.W.J.H. (Brenda), Pichler, I. (Irene), Pilia, M.G. (Maria Grazia), Polasek, O. (Ozren), Pramstaller, P.P. (Peter Paul), Raitakari, O.T. (Olli T.), Rankinen, T. (Tuomo), Rao, D.C., Rayner, N.W. (Nigel William), Ribel-Madsen, R. (Rasmus), Rice, T.K. (Treva K.), Richards, M. (Marcus), Ridker, P.M. (Paul), Rivadeneira Ramirez, F. (Fernando), Ryan, K.A. (Kathy A.), Sanna, S. (Serena), Sarzynski, M.A. (Mark A.), Scholtens, S. (Salome), Scott, R.A. (Robert), Sebert, S. (Sylvain), Southam, L. (Lorraine), Sparsø, T. (Thomas), Steinthorsdottir, V. (Valgerdur), Stirrups, K. (Kathy), Stolk, R.P. (Ronald), Strauch, K. (Konstantin), Stringham, H.M. (Heather), Swertz, M. (Morris), Swift, A.J. (Amy), Tönjes, A. (Anke), Tsafantakis, E. (Emmanouil), Most, P.J. (Peter) van der, Vliet-Ostaptchouk, J.V. (Jana) van, Vandenput, L. (Liesbeth), Vartiainen, E. (Erkki), Venturini, C. (Cristina), Verweij, N. (Niek), Viikari, J. (Jorma), Vitart, V. (Veronique), Vohl, M.-C. (Marie-Claude), Vonk, J.M. (Judith), Waeber, G. (Gérard), Widen, E. (Elisabeth), Willemsen, G.A.H.M. (Gonneke), Wilsgaard, T. (Tom), Winkler, T.W. (Thomas W.), Wright, A.F. (Alan), Yerges-Armstrong, L.M. (Laura), Zhao, J.H. (Jing Hua), Zillikens, M.C. (Carola), Boomsma, D.I. (Dorret), Bouchard, C. (Claude), Chambers, J.C. (John), Chasman, D.I. (Daniel), Cusi, D. (Daniele), Gansevoort, R.T. (Ron), Gieger, C. (Christian), Hansen, T. (T.), Hicks, A.A. (Andrew), Hu, F. (Frank), Hveem, K. (Kristian), Jarvelin, M.-R. (Marjo-Riitta), Kajantie, E. (Eero), Kooner, J.S. (Jaspal S.), Kuh, D. (Diana), Kuusisto, J. (Johanna), Laakso, M. (Markku), Lakka, T.A. (Timo), Lehtimäki, T. (Terho), Metspalu, A. (Andres), Njølstad, I. (Inger), Ohlsson, C. (Claes), Oldehinkel, A.J. (Albertine), Palmer, L.J. (Lyle J.), Pedersen, O. (Oluf), Perola, M. (Markus), Peters, A. (Annette), Psaty, B.M. (Bruce), Puolijoki, H. (Hannu), Rauramaa, R. (Rainer), Rudan, I. (Igor), Salomaa, V. (Veikko), Schwarz, P.E.H. (Peter), Shudiner, A.R. (Alan R.), Smit, J.H. (Jan), Sørensen, T.I.A. (Thorkild), Spector, T.D. (Timothy), Zwart, J-A. (John-Anker), Stumvoll, M. (Michael), Tremblay, A. (Angelo), Tuomilehto, J. (Jaakko), Uitterlinden, A.G. (André), Uusitupa, M. (Matti), Völker, U. (Uwe), Vollenweider, P. (Peter), Wareham, N.J. (Nick), Watkins, H. (Hugh), Wilson, J.F. (James), Zeggini, E. (Eleftheria), Abecasis, G.R. (Gonçalo), Boehnke, M. (Michael), Borecki, I.B. (Ingrid), Deloukas, P. (Panagiotis), Duijn, C.M. (Cornelia) van, Fox, C.S. (Caroline), Groop, L. (Leif), Heid, I.M. (Iris), Hunter, D.J. (David J.), Kaplan, R.C. (Robert), McCarthy, M.I. (Mark), North, K.E. (Kari), O´Connell, J.R., Schlessinger, D. (David), Thorsteinsdottir, U. (Unnur), Strachan, D.P. (David), Frayling, T.M. (Timothy), Hirschhorn, J.N. (Joel), Müller-Nurasyid, M. (Martina), and Loos, R.J.F. (Ruth)
Abstract: Large consortia have revealed hundreds of genetic loci associated with anthropometric traits, one trait at a time. We examined whether genetic variants affect body shape as a composite phenotype that is represented by a combination of anthropometric traits. We developed an approach that calculates averaged PCs (AvPCs) representing body shape derived from six anthropometric traits (body mass index, height, weight, waist and hip circumference, waist-to-hip ratio). The first four AvPCs explain >99% of the variability, are heritable, and associate with cardiometabolic outcomes. We performed genome-wide association analyses for each body shape composite phenotype across 65 studies and meta-analysed summary statistics. We identify six novel loci: LEMD2 and CD47 for AvPC1, RPS6KA5/C14orf159 and GANAB for AvPC3, and ARL15 and ANP32 for AvPC4. Our findings highlight the value of using multiple traits to define complex phenotypes for discovery, which are not captured by single-trait analyses, and may shed light onto new pathways.
Published: 2016
Full Text: View/download PDF

19. A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape

Author: Ried, J. S. (Janina S.), Jeff, J. M. (Janina M.), Chu, A. Y. (Audrey Y.), Bragg-Gresham, J. L. (Jennifer L.), van Dongen, J. (Jenny), Huffman, J. E. (Jennifer E.), Ahluwalia, T. S. (Tarunveer S.), Cadby, G. (Gemma), Eklund, N. (Niina), Eriksson, J. (Joel), Esko, T. (Tonu), Feitosa, M. F. (Mary F.), Goel, A. (Anuj), Gorski, M. (Mathias), Hayward, C. (Caroline), Heard-Costa, N. L. (Nancy L.), Jackson, A. U. (Anne U.), Jokinen, E. (Eero), Kanoni, S. (Stavroula), Kristiansson, K. (Kati), Kutalik, Z. (Zoltan), Lahti, J. (Jari), Luan, J. (Jian'an), Maegi, R. (Reedik), Mahajan, A. (Anubha), Mangino, M. (Massimo), Medina-Gomez, C. (Carolina), Monda, K. L. (Keri L.), Nolte, I. M. (Ilja M.), Perusse, L. (Louis), Prokopenko, I. (Inga), Qi, L. (Lu), Rose, L. M. (Lynda M.), Salvi, E. (Erika), Smith, M. T. (Megan T.), Snieder, H. (Harold), Stancakova, A. (Alena), Sung, Y. J. (Yun Ju), Tachmazidou, I. (Ioanna), Teumer, A. (Alexander), Thorleifsson, G. (Gudmar), van der Harst, P. (Pim), Walker, R. W. (Ryan W.), Wang, S. R. (Sophie R.), Wild, S. H. (Sarah H.), Willems, S. M. (Sara M.), Wong, A. (Andrew), Zhang, W. (Weihua), Albrecht, E. (Eva), Alves, A. C. (Alexessander Couto), Bakker, S. J. (Stephan J. L.), Barlassina, C. (Cristina), Bartz, T. M. (Traci M.), Beilby, J. (John), Bellis, C. (Claire), Bergman, R. N. (Richard N.), Bergmann, S. (Sven), Blangero, J. (John), Blueher, M. (Matthias), Boerwinkle, E. (Eric), Bonnycastle, L. L. (Lori L.), Bornstein, S. R. (Stefan R.), Bruinenberg, M. (Marcel), Campbell, H. (Harry), Chen, Y. I. (Yii-Der Ida), Chiang, C. W. (Charleston W. K.), Chines, P. S. (Peter S.), Collins, F. S. (Francis S.), Cucca, F. (Fracensco), Cupples, L. A. (L. Adrienne), D'Avila, F. (Francesca), de Geus, E. J. (Eco J. C.), Dedoussis, G. (George), Dimitriou, M. (Maria), Doering, A. (Angela), Eriksson, J. G. (Johan G.), Farmaki, A.-E. (Aliki-Eleni), Farrall, M. (Martin), Ferreira, T. (Teresa), Fischer, K. (Krista), Forouhi, N. G. (Nita G.), Friedrich, N. (Nele), Gjesing, A. P. (Anette Prior), Glorioso, N. (Nicola), Graff, M. (Mariaelisa), Grallert, H. (Harald), Grarup, N. (Niels), Graessler, J. (Juergen), Grewal, J. (Jagvir), Hamsten, A. (Anders), Harder, M. N. (Marie Neergaard), Hartman, C. A. (Catharina A.), Hassinen, M. (Maija), Hastie, N. (Nicholas), Hattersley, A. T. (Andrew Tym), Havulinna, A. S. (Aki S.), Heliovaara, M. (Markku), Hillege, H. (Hans), Hofman, A. (Albert), Holmen, O. (Oddgeir), Homuth, G. (Georg), Hottenga, J.-J. (Jouke-Jan), Hui, J. (Jennie), Husemoen, L. L. (Lise Lotte), Hysi, P. G. (Pirro G.), Isaacs, A. (Aaron), Ittermann, T. (Till), Jalilzadeh, S. (Shapour), James, A. L. (Alan L.), Jorgensen, T. (Torben), Jousilahti, P. (Pekka), Jula, A. (Antti), Justesen, J. M. (Johanne Marie), Justice, A. E. (Anne E.), Kahonen, M. (Mika), Karaleftheri, M. (Maria), Khaw, K. T. (Kay Tee), Keinänen-Kiukaanniemi, S. M. (Sirkka M.), Kinnunen, L. (Leena), Knekt, P. B. (Paul B.), Koistinen, H. A. (Heikki A.), Kolcic, I. (Ivana), Kooner, I. K. (Ishminder K.), Koskinen, S. (Seppo), Kovacs, P. (Peter), Kyriakou, T. (Theodosios), Laitinen, T. (Tomi), Langenberg, C. (Claudia), Lewin, A. M. (Alexandra M.), Lichtner, P. (Peter), Lindgren, C. M. (Cecilia M.), Lindstrom, J. (Jaana), Linneberg, A. (Allan), Lorbeer, R. (Roberto), Lorentzon, M. (Mattias), Luben, R. (Robert), Lyssenko, V. (Valeriya), Mannisto, S. (Satu), Manunta, P. (Paolo), Leach, I. M. (Irene Mateo), McArdle, W. L. (Wendy L.), Mcknight, B. (Barbara), Mohlke, K. L. (Karen L.), Mihailov, E. (Evelin), Milani, L. (Lili), Mills, R. (Rebecca), Montasser, M. E. (May E.), Morris, A. P. (Andrew P.), Mueller, G. (Gabriele), Musk, A. W. (Arthur W.), Narisu, N. (Narisu), Ong, K. K. (Ken K.), Oostra, B. A. (Ben A.), Osmond, C. (Clive), Palotie, A. (Aarno), Pankow, J. S. (James S.), Paternoster, L. (Lavinia), Penninx, B. W. (Brenda W.), Pichler, I. (Irene), Pilia, M. G. (Maria G.), Polasek, O. (Ozren), Pramstaller, P. P. (Peter P.), Raitakari, O. T. (Olli T.), Rankinen, T. (Tuomo), Rao, D. C. (D. C.), Rayner, N. W. (Nigel W.), Ribel-Madsen, R. (Rasmus), Rice, T. K. (Treva K.), Richards, M. (Marcus), Ridker, P. M. (Paul M.), Rivadeneira, F. (Fernando), Ryan, K. A. (Kathy A.), Sanna, S. (Serena), Sarzynski, M. A. (Mark A.), Scholtens, S. (Salome), Scott, R. A. (Robert A.), Sebert, S. (Sylvain), Southam, L. (Lorraine), Sparso, T. H. (Thomas Hempel), Steinthorsdottir, V. (Valgerdur), Stirrups, K. (Kathleen), Stolk, R. P. (Ronald P.), Strauch, K. (Konstantin), Stringham, H. M. (Heather M.), Swertz, M. A. (Morris A.), Swift, A. J. (Amy J.), Toenjes, A. (Anke), Tsafantakis, E. (Emmanouil), van der Most, P. J. (Peter J.), Van Vliet-Ostaptchouk, J. V. (Jana V.), Vandenput, L. (Liesbeth), Vartiainen, E. (Erkki), Venturini, C. (Cristina), Verweij, N. (Niek), Viikari, J. S. (Jorma S.), Vitart, V. (Veronique), Vohl, M.-C. (Marie-Claude), Vonk, J. M. (Judith M.), Waeber, G. (Gerard), Widen, E. (Elisabeth), Willemsen, G. (Gonneke), Wilsgaard, T. (Tom), Winkler, T. W. (Thomas W.), Wright, A. F. (Alan F.), Yerges-Armstrong, L. M. (Laura M.), Zhao, J. H. (Jing Hua), Zillikens, M. C. (M. Carola), Boomsma, D. I. (Dorret I.), Bouchard, C. (Claude), Chambers, J. C. (John C.), Chasman, D. I. (Daniel I.), Cusi, D. (Daniele), Gansevoort, R. T. (Ron T.), Gieger, C. (Christian), Hansen, T. (Torben), Hicks, A. A. (Andrew A.), Hu, F. (Frank), Hveem, K. (Kristian), Jarvelin, M.-R. (Marjo-Riitta), Kajantie, E. (Eero), Kooner, J. S. (Jaspal S.), Kuh, D. (Diana), Kuusisto, J. (Johanna), Laakso, M. (Markku), Lakka, T. A. (Timo A.), Lehtimaeki, T. (Terho), Metspalu, A. (Andres), Njolstad, I. (Inger), Ohlsson, C. (Claes), Oldehinkel, A. J. (Albertine J.), Palmer, L. J. (Lyle J.), Pedersen, O. (Oluf), Perola, M. (Markus), Peters, A. (Annette), Psaty, B. M. (Bruce M.), Puolijoki, H. (Hannu), Rauramaa, R. (Rainer), Rudan, I. (Igor), Salomaa, V. (Veikko), Schwarz, P. E. (Peter E. H.), Shudiner, A. R. (Alan R.), Smit, J. H. (Jan H.), Sorensen, T. I. (Thorkild I. A.), Spector, T. D. (Timothy D.), Stefansson, K. (Kari), Stumvoll, M. (Michael), Tremblay, A. (Angelo), Tuomilehto, J. (Jaakko), Uitterlinden, A. G. (Andre G.), Uusitupa, M. (Matti), Voelker, U. (Uwe), Vollenweider, P. (Peter), Wareham, N. J. (Nicholas J.), Watkins, H. (Hugh), Wilson, J. F. (James F.), Zeggini, E. (Eleftheria), Abecasis, G. R. (Goncalo R.), Boehnke, M. (Michael), Borecki, I. B. (Ingrid B.), Deloukas, P. (Panos), van Duijn, C. M. (Cornelia M.), Fox, C. (Caroline), Groop, L. C. (Leif C.), Heid, I. M. (Iris M.), Hunter, D. J. (David J.), Kaplan, R. C. (Robert C.), McCarthy, M. I. (Mark I.), North, K. E. (Kari E.), O'Connell, J. R. (Jeffrey R.), Schlessinger, D. (David), Thorsteinsdottir, U. (Unnur), Strachan, D. P. (David P.), Frayling, T. (Timothy), Hirschhorn, J. N. (Joel N.), Mueller-Nurasyid, M. (Martina), Loos, R. J. (Ruth J. F.), Ried, J. S. (Janina S.), Jeff, J. M. (Janina M.), Chu, A. Y. (Audrey Y.), Bragg-Gresham, J. L. (Jennifer L.), van Dongen, J. (Jenny), Huffman, J. E. (Jennifer E.), Ahluwalia, T. S. (Tarunveer S.), Cadby, G. (Gemma), Eklund, N. (Niina), Eriksson, J. (Joel), Esko, T. (Tonu), Feitosa, M. F. (Mary F.), Goel, A. (Anuj), Gorski, M. (Mathias), Hayward, C. (Caroline), Heard-Costa, N. L. (Nancy L.), Jackson, A. U. (Anne U.), Jokinen, E. (Eero), Kanoni, S. (Stavroula), Kristiansson, K. (Kati), Kutalik, Z. (Zoltan), Lahti, J. (Jari), Luan, J. (Jian'an), Maegi, R. (Reedik), Mahajan, A. (Anubha), Mangino, M. (Massimo), Medina-Gomez, C. (Carolina), Monda, K. L. (Keri L.), Nolte, I. M. (Ilja M.), Perusse, L. (Louis), Prokopenko, I. (Inga), Qi, L. (Lu), Rose, L. M. (Lynda M.), Salvi, E. (Erika), Smith, M. T. (Megan T.), Snieder, H. (Harold), Stancakova, A. (Alena), Sung, Y. J. (Yun Ju), Tachmazidou, I. (Ioanna), Teumer, A. (Alexander), Thorleifsson, G. (Gudmar), van der Harst, P. (Pim), Walker, R. W. (Ryan W.), Wang, S. R. (Sophie R.), Wild, S. H. (Sarah H.), Willems, S. M. (Sara M.), Wong, A. (Andrew), Zhang, W. (Weihua), Albrecht, E. (Eva), Alves, A. C. (Alexessander Couto), Bakker, S. J. (Stephan J. L.), Barlassina, C. (Cristina), Bartz, T. M. (Traci M.), Beilby, J. (John), Bellis, C. (Claire), Bergman, R. N. (Richard N.), Bergmann, S. (Sven), Blangero, J. (John), Blueher, M. (Matthias), Boerwinkle, E. (Eric), Bonnycastle, L. L. (Lori L.), Bornstein, S. R. (Stefan R.), Bruinenberg, M. (Marcel), Campbell, H. (Harry), Chen, Y. I. (Yii-Der Ida), Chiang, C. W. (Charleston W. K.), Chines, P. S. (Peter S.), Collins, F. S. (Francis S.), Cucca, F. (Fracensco), Cupples, L. A. (L. Adrienne), D'Avila, F. (Francesca), de Geus, E. J. (Eco J. C.), Dedoussis, G. (George), Dimitriou, M. (Maria), Doering, A. (Angela), Eriksson, J. G. (Johan G.), Farmaki, A.-E. (Aliki-Eleni), Farrall, M. (Martin), Ferreira, T. (Teresa), Fischer, K. (Krista), Forouhi, N. G. (Nita G.), Friedrich, N. (Nele), Gjesing, A. P. (Anette Prior), Glorioso, N. (Nicola), Graff, M. (Mariaelisa), Grallert, H. (Harald), Grarup, N. (Niels), Graessler, J. (Juergen), Grewal, J. (Jagvir), Hamsten, A. (Anders), Harder, M. N. (Marie Neergaard), Hartman, C. A. (Catharina A.), Hassinen, M. (Maija), Hastie, N. (Nicholas), Hattersley, A. T. (Andrew Tym), Havulinna, A. S. (Aki S.), Heliovaara, M. (Markku), Hillege, H. (Hans), Hofman, A. (Albert), Holmen, O. (Oddgeir), Homuth, G. (Georg), Hottenga, J.-J. (Jouke-Jan), Hui, J. (Jennie), Husemoen, L. L. (Lise Lotte), Hysi, P. G. (Pirro G.), Isaacs, A. (Aaron), Ittermann, T. (Till), Jalilzadeh, S. (Shapour), James, A. L. (Alan L.), Jorgensen, T. (Torben), Jousilahti, P. (Pekka), Jula, A. (Antti), Justesen, J. M. (Johanne Marie), Justice, A. E. (Anne E.), Kahonen, M. (Mika), Karaleftheri, M. (Maria), Khaw, K. T. (Kay Tee), Keinänen-Kiukaanniemi, S. M. (Sirkka M.), Kinnunen, L. (Leena), Knekt, P. B. (Paul B.), Koistinen, H. A. (Heikki A.), Kolcic, I. (Ivana), Kooner, I. K. (Ishminder K.), Koskinen, S. (Seppo), Kovacs, P. (Peter), Kyriakou, T. (Theodosios), Laitinen, T. (Tomi), Langenberg, C. (Claudia), Lewin, A. M. (Alexandra M.), Lichtner, P. (Peter), Lindgren, C. M. (Cecilia M.), Lindstrom, J. (Jaana), Linneberg, A. (Allan), Lorbeer, R. (Roberto), Lorentzon, M. (Mattias), Luben, R. (Robert), Lyssenko, V. (Valeriya), Mannisto, S. (Satu), Manunta, P. (Paolo), Leach, I. M. (Irene Mateo), McArdle, W. L. (Wendy L.), Mcknight, B. (Barbara), Mohlke, K. L. (Karen L.), Mihailov, E. (Evelin), Milani, L. (Lili), Mills, R. (Rebecca), Montasser, M. E. (May E.), Morris, A. P. (Andrew P.), Mueller, G. (Gabriele), Musk, A. W. (Arthur W.), Narisu, N. (Narisu), Ong, K. K. (Ken K.), Oostra, B. A. (Ben A.), Osmond, C. (Clive), Palotie, A. (Aarno), Pankow, J. S. (James S.), Paternoster, L. (Lavinia), Penninx, B. W. (Brenda W.), Pichler, I. (Irene), Pilia, M. G. (Maria G.), Polasek, O. (Ozren), Pramstaller, P. P. (Peter P.), Raitakari, O. T. (Olli T.), Rankinen, T. (Tuomo), Rao, D. C. (D. C.), Rayner, N. W. (Nigel W.), Ribel-Madsen, R. (Rasmus), Rice, T. K. (Treva K.), Richards, M. (Marcus), Ridker, P. M. (Paul M.), Rivadeneira, F. (Fernando), Ryan, K. A. (Kathy A.), Sanna, S. (Serena), Sarzynski, M. A. (Mark A.), Scholtens, S. (Salome), Scott, R. A. (Robert A.), Sebert, S. (Sylvain), Southam, L. (Lorraine), Sparso, T. H. (Thomas Hempel), Steinthorsdottir, V. (Valgerdur), Stirrups, K. (Kathleen), Stolk, R. P. (Ronald P.), Strauch, K. (Konstantin), Stringham, H. M. (Heather M.), Swertz, M. A. (Morris A.), Swift, A. J. (Amy J.), Toenjes, A. (Anke), Tsafantakis, E. (Emmanouil), van der Most, P. J. (Peter J.), Van Vliet-Ostaptchouk, J. V. (Jana V.), Vandenput, L. (Liesbeth), Vartiainen, E. (Erkki), Venturini, C. (Cristina), Verweij, N. (Niek), Viikari, J. S. (Jorma S.), Vitart, V. (Veronique), Vohl, M.-C. (Marie-Claude), Vonk, J. M. (Judith M.), Waeber, G. (Gerard), Widen, E. (Elisabeth), Willemsen, G. (Gonneke), Wilsgaard, T. (Tom), Winkler, T. W. (Thomas W.), Wright, A. F. (Alan F.), Yerges-Armstrong, L. M. (Laura M.), Zhao, J. H. (Jing Hua), Zillikens, M. C. (M. Carola), Boomsma, D. I. (Dorret I.), Bouchard, C. (Claude), Chambers, J. C. (John C.), Chasman, D. I. (Daniel I.), Cusi, D. (Daniele), Gansevoort, R. T. (Ron T.), Gieger, C. (Christian), Hansen, T. (Torben), Hicks, A. A. (Andrew A.), Hu, F. (Frank), Hveem, K. (Kristian), Jarvelin, M.-R. (Marjo-Riitta), Kajantie, E. (Eero), Kooner, J. S. (Jaspal S.), Kuh, D. (Diana), Kuusisto, J. (Johanna), Laakso, M. (Markku), Lakka, T. A. (Timo A.), Lehtimaeki, T. (Terho), Metspalu, A. (Andres), Njolstad, I. (Inger), Ohlsson, C. (Claes), Oldehinkel, A. J. (Albertine J.), Palmer, L. J. (Lyle J.), Pedersen, O. (Oluf), Perola, M. (Markus), Peters, A. (Annette), Psaty, B. M. (Bruce M.), Puolijoki, H. (Hannu), Rauramaa, R. (Rainer), Rudan, I. (Igor), Salomaa, V. (Veikko), Schwarz, P. E. (Peter E. H.), Shudiner, A. R. (Alan R.), Smit, J. H. (Jan H.), Sorensen, T. I. (Thorkild I. A.), Spector, T. D. (Timothy D.), Stefansson, K. (Kari), Stumvoll, M. (Michael), Tremblay, A. (Angelo), Tuomilehto, J. (Jaakko), Uitterlinden, A. G. (Andre G.), Uusitupa, M. (Matti), Voelker, U. (Uwe), Vollenweider, P. (Peter), Wareham, N. J. (Nicholas J.), Watkins, H. (Hugh), Wilson, J. F. (James F.), Zeggini, E. (Eleftheria), Abecasis, G. R. (Goncalo R.), Boehnke, M. (Michael), Borecki, I. B. (Ingrid B.), Deloukas, P. (Panos), van Duijn, C. M. (Cornelia M.), Fox, C. (Caroline), Groop, L. C. (Leif C.), Heid, I. M. (Iris M.), Hunter, D. J. (David J.), Kaplan, R. C. (Robert C.), McCarthy, M. I. (Mark I.), North, K. E. (Kari E.), O'Connell, J. R. (Jeffrey R.), Schlessinger, D. (David), Thorsteinsdottir, U. (Unnur), Strachan, D. P. (David P.), Frayling, T. (Timothy), Hirschhorn, J. N. (Joel N.), Mueller-Nurasyid, M. (Martina), and Loos, R. J. (Ruth J. F.)
Abstract: Large consortia have revealed hundreds of genetic loci associated with anthropometric traits, one trait at a time. We examined whether genetic variants affect body shape as a composite phenotype that is represented by a combination of anthropometric traits. We developed an approach that calculates averaged PCs (AvPCs) representing body shape derived from six anthropometric traits (body mass index, height, weight, waist and hip circumference, waist-to-hip ratio). The first four AvPCs explain >99% of the variability, are heritable, and associate with cardiometabolic outcomes. We performed genome-wide association analyses for each body shape composite phenotype across 65 studies and meta-analysed summary statistics. We identify six novel loci: LEMD2 and CD47 for AvPC1, RPS6KA5/C14orf159 and GANAB for AvPC3, and ARL15 and ANP32 for AvPC4. Our findings highlight the value of using multiple traits to define complex phenotypes for discovery, which are not captured by single-trait analyses, and may shed light onto new pathways.
Published: 2016

20. A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape

Author: Ried, JS, Jeff, JM, Chu, AY, Bragg-Gresham, JL, Dongen, J, Huffman, JE, Ahluwalia, TS, Cadby, G, Eklund, N, Eriksson, J, Esko, T, Feitosa, MF, Goel, A, Gorski, M, Hayward, C, Heard-Costa, NL, Jackson, AU, Jokinen, E, Kanoni, S, Kristiansson, K, Kutalik, Z, Lahti, J, Luan, JA, Magi, R, Mahajan, A, Mangino, M, Medina-Gomez, C, Monda, KL, Nolte, IM (Ilja), Perusse, L, Prokopenko, I, Qi, L, Rose, LM, Salvi, E, Smith, M T, Snieder, H, Stancakova, A, Sung, YJ, Tachmazidou, I, Teumer, A, Thorleifsson, G, van der Harst, P, Walker, RW, Wang, SR, Wild, SH, Willems, SM, Wong, A, Zhang, WH, Albrecht, E, Alves, AC, Bakker, SJL, Barlassina, C, Bartz, TM, Beilby, J, Bellis, C, Bergman, RN, Bergmann, S, Blangero, J, Bluher, M, Boerwinkle, E, Bonnycastle, LL, Bornstein, SR, Bruinenberg, M, Campbell, H, Chen, YDI, Chiang, CWK, Chines, PS, Collins, FS, Cucca, F, Cupples, LA, D'Avila, F, de Geus, EJC, Dedoussis, G, Dimitriou, M, Doring, A, Eriksson, JG, Farmaki, AE, Farrall, M, Ferreira, T, Fischer, K (Kirsten), Forouhi, NG, Friedrich, N, Gjesing, AP, Glorioso, N, Graff, M, Grallert, H, Grarup, N, Grassler, J, Grewal, J, Hamsten, A, Harder, MN, Hartman, CA, Hassinen, M, Hastie, N, Hattersley, AT, Havulinna, AS, Heliovaara, M, Hillege, H, Hofman, Bert, Holmen, O, Homuth, G, Hottenga, JJ (Jouke Jan), Hui, JN, Husemoen, LL, Hysi, PG, Isaacs, Aaron, Ittermann, T, Jalilzadeh, S, James, AL, Jorgensen, T, Jousilahti, P, Jula, A, Justesen, JM, Justice, AE, Kahonen, M, Karaleftheri, M, Khaw, KT, Keinanen-Kiukaanniemi, SM, Kinnunen, L, Knekt, PB, Koistinen, HA, Kolcic, I, Kooner, IK, Koskinen, S, Kovacs, P, Kyriakou, T, Laitinen, T, Langenberg, C, Lewin, AM, Lichtner, P, Lindgren, CM, Lindstrom, J, Linneberg, A, Lorbeer, R, Lorentzon, M, Luben, R, Lyssenko, V, Mannisto, S, Manunta, P, Leach, IM, McArdle, WL, McKnight, B, Mohlke, KL, Mihailov, E, Milani, L, Mills, R, Montasser, ME, Morris, AP, Muller, G, Musk, AW, Narisu, N, Ong, KK, Oostra, B, Osmond, C, Palotie, A, Pankow, JS, Paternoster, L, Penninx, BW, Pichler, I, Pilia, MG, Polasek, O, Pramstaller, PP, Raitakari, OT, Rankinen, T, Rao, DC, Rayner, NW, Ribel-Madsen, R, Rice, TK, Richards, M, Ridker, PM, Rivadeneira, Fernando, Ryan, KA, Sanna, S, Sarzynski, MA, Scholtens, s, Scott, RA, Sebert, S, Southam, L, Sparso, TH, Steinthorsdottir, V, Stirrups, K, Stolk, RP (Ronald), Strauch, K, Stringham, HM, Swertz, MA, Swift, AJ, Tonjes, A, Tsafantakis, E, van der Most, PJ, van Vliet-Ostaptchouk, JV, Vandenput, L, Vartiainen, E, Venturini, C, Verweij, N (Niek), Viikari, JS, Vitart, V, Vohl, MC, Vonk, JM, Waeber, G, Widen, E, Willemsen, G, Wilsgaard, T, Winkler, TW, Wright, AF, Yerges-Armstrong, LM, Zhao, JH, Zillikens, M.C., Boomsma, DI, Bouchard, C, Chambers, JC, Chasman, DI, Cusi, D, Gansevoort, RT, Gieger, C, Hansen, T, Hicks, AA, Hu, F, Hveem, K, Jarvelin, MR, Kajantie, E, Kooner, JS, Kuh, D, Kuusisto, J, Laakso, M, Lakka, TA, Lehtimaki, T, Metspalu, A, Njolstad, I, Ohlsson, C, Oldehinkel, AJ (A.), Palmer, LJ, Pedersen, O, Perola, M, Peters, A, Psaty, BM, Puolijoki, H, Rauramaa, R, Rudan, I, Salomaa, V, Schwarz, PEH, Shudiner, A R, Smit, JH, Sorensen, TIA, Spector, TD, Stefansson, K, Stumvoll, M, Tremblay, A, Tuomilehto, J, Uitterlinden, André, Uusitupa, M, Volker, U, Vollenweider, P, Wareham, NJ, Watkins, H, Wilson, JF, Zeggini, E, Abecasis, GR, Boehnke, M, Borecki, IB, Deloukas, P, Duijn, Cornelia, Fox, C, Groop, LC, Heid, IM, Hunter, DJ, Kaplan, RC, McCarthy, MI, North, KE, O'Connell, JR, Schlessinger, D, Thorsteinsdottir, U, Strachan, DP, Frayling, T, Hirschhorn, JN, Muller-Nurasyid, M, Loos, RJF, Ried, JS, Jeff, JM, Chu, AY, Bragg-Gresham, JL, Dongen, J, Huffman, JE, Ahluwalia, TS, Cadby, G, Eklund, N, Eriksson, J, Esko, T, Feitosa, MF, Goel, A, Gorski, M, Hayward, C, Heard-Costa, NL, Jackson, AU, Jokinen, E, Kanoni, S, Kristiansson, K, Kutalik, Z, Lahti, J, Luan, JA, Magi, R, Mahajan, A, Mangino, M, Medina-Gomez, C, Monda, KL, Nolte, IM (Ilja), Perusse, L, Prokopenko, I, Qi, L, Rose, LM, Salvi, E, Smith, M T, Snieder, H, Stancakova, A, Sung, YJ, Tachmazidou, I, Teumer, A, Thorleifsson, G, van der Harst, P, Walker, RW, Wang, SR, Wild, SH, Willems, SM, Wong, A, Zhang, WH, Albrecht, E, Alves, AC, Bakker, SJL, Barlassina, C, Bartz, TM, Beilby, J, Bellis, C, Bergman, RN, Bergmann, S, Blangero, J, Bluher, M, Boerwinkle, E, Bonnycastle, LL, Bornstein, SR, Bruinenberg, M, Campbell, H, Chen, YDI, Chiang, CWK, Chines, PS, Collins, FS, Cucca, F, Cupples, LA, D'Avila, F, de Geus, EJC, Dedoussis, G, Dimitriou, M, Doring, A, Eriksson, JG, Farmaki, AE, Farrall, M, Ferreira, T, Fischer, K (Kirsten), Forouhi, NG, Friedrich, N, Gjesing, AP, Glorioso, N, Graff, M, Grallert, H, Grarup, N, Grassler, J, Grewal, J, Hamsten, A, Harder, MN, Hartman, CA, Hassinen, M, Hastie, N, Hattersley, AT, Havulinna, AS, Heliovaara, M, Hillege, H, Hofman, Bert, Holmen, O, Homuth, G, Hottenga, JJ (Jouke Jan), Hui, JN, Husemoen, LL, Hysi, PG, Isaacs, Aaron, Ittermann, T, Jalilzadeh, S, James, AL, Jorgensen, T, Jousilahti, P, Jula, A, Justesen, JM, Justice, AE, Kahonen, M, Karaleftheri, M, Khaw, KT, Keinanen-Kiukaanniemi, SM, Kinnunen, L, Knekt, PB, Koistinen, HA, Kolcic, I, Kooner, IK, Koskinen, S, Kovacs, P, Kyriakou, T, Laitinen, T, Langenberg, C, Lewin, AM, Lichtner, P, Lindgren, CM, Lindstrom, J, Linneberg, A, Lorbeer, R, Lorentzon, M, Luben, R, Lyssenko, V, Mannisto, S, Manunta, P, Leach, IM, McArdle, WL, McKnight, B, Mohlke, KL, Mihailov, E, Milani, L, Mills, R, Montasser, ME, Morris, AP, Muller, G, Musk, AW, Narisu, N, Ong, KK, Oostra, B, Osmond, C, Palotie, A, Pankow, JS, Paternoster, L, Penninx, BW, Pichler, I, Pilia, MG, Polasek, O, Pramstaller, PP, Raitakari, OT, Rankinen, T, Rao, DC, Rayner, NW, Ribel-Madsen, R, Rice, TK, Richards, M, Ridker, PM, Rivadeneira, Fernando, Ryan, KA, Sanna, S, Sarzynski, MA, Scholtens, s, Scott, RA, Sebert, S, Southam, L, Sparso, TH, Steinthorsdottir, V, Stirrups, K, Stolk, RP (Ronald), Strauch, K, Stringham, HM, Swertz, MA, Swift, AJ, Tonjes, A, Tsafantakis, E, van der Most, PJ, van Vliet-Ostaptchouk, JV, Vandenput, L, Vartiainen, E, Venturini, C, Verweij, N (Niek), Viikari, JS, Vitart, V, Vohl, MC, Vonk, JM, Waeber, G, Widen, E, Willemsen, G, Wilsgaard, T, Winkler, TW, Wright, AF, Yerges-Armstrong, LM, Zhao, JH, Zillikens, M.C., Boomsma, DI, Bouchard, C, Chambers, JC, Chasman, DI, Cusi, D, Gansevoort, RT, Gieger, C, Hansen, T, Hicks, AA, Hu, F, Hveem, K, Jarvelin, MR, Kajantie, E, Kooner, JS, Kuh, D, Kuusisto, J, Laakso, M, Lakka, TA, Lehtimaki, T, Metspalu, A, Njolstad, I, Ohlsson, C, Oldehinkel, AJ (A.), Palmer, LJ, Pedersen, O, Perola, M, Peters, A, Psaty, BM, Puolijoki, H, Rauramaa, R, Rudan, I, Salomaa, V, Schwarz, PEH, Shudiner, A R, Smit, JH, Sorensen, TIA, Spector, TD, Stefansson, K, Stumvoll, M, Tremblay, A, Tuomilehto, J, Uitterlinden, André, Uusitupa, M, Volker, U, Vollenweider, P, Wareham, NJ, Watkins, H, Wilson, JF, Zeggini, E, Abecasis, GR, Boehnke, M, Borecki, IB, Deloukas, P, Duijn, Cornelia, Fox, C, Groop, LC, Heid, IM, Hunter, DJ, Kaplan, RC, McCarthy, MI, North, KE, O'Connell, JR, Schlessinger, D, Thorsteinsdottir, U, Strachan, DP, Frayling, T, Hirschhorn, JN, Muller-Nurasyid, M, and Loos, RJF
Published: 2016

21. Correction: The influence of age and sex on genetic associations with adult body size and shape : a large-scale genome-wide interaction study.

Author: Winkler, T.W., Justice, A.E., Graff, M., Barata, L., Feitosa, M.F., Chu, S., Czajkowski, J., Esko, T., Fall, T., Kilpeläinen, T.O., Lu, Y., Mägi, R., Mihailov, E., Pers, T.H., Rüeger, S., Teumer, A., Ehret, G.B., Ferreira, T., Heard-Costa, N.L., Karjalainen, J., Lagou, V., Mahajan, A., Neinast, M.D., Prokopenko, I., Simino, J., Teslovich, T.M., Jansen, R., Westra, H.J., White, C.C., Absher, D., Ahluwalia, T.S., Ahmad, S., Albrecht, E., Alves, A.C., Bragg-Gresham, J.L., de Craen, A.J., Bis, J.C., Bonnefond, A., Boucher, G., Cadby, G., Cheng, Y.C., Chiang, C.W., Delgado, G., Demirkan, A., Dueker, N., Eklund, N., Eiriksdottir, G., Eriksson, J., Feenstra, B., Fischer, K., Frau, F., Galesloot, T.E., Geller, F., Goel, A., Gorski, M., Grammer, T.B., Gustafsson, S., Haitjema, S., Hottenga, J.J., Huffman, J.E., Jackson, A.U., Jacobs, K.B., Johansson, Å., Kaakinen, M., Kleber, M.E., Lahti, J., Mateo Leach, I., Lehne, B., Liu, Y., Lo, K.S., Lorentzon, M., Luan, J., Madden, P.A., Mangino, M., McKnight, B., Medina-Gomez, C., Monda, K.L., Montasser, M.E., Müller, G., Müller-Nurasyid, M., Nolte, I.M., Panoutsopoulou, K., Pascoe, L., Paternoster, L., Rayner, N.W., Renström, F., Rizzi, F., Rose, L.M., Ryan, K.A., Salo, P., Sanna, S., Scharnagl, H., Shi, J., Smith, A.V., Southam, L., Stančáková, A., Steinthorsdottir, V., Strawbridge, R.J., Sung, Y.J., Tachmazidou, I., Tanaka, T., Thorleifsson, G., Trompet, S., Pervjakova, N., Tyrer, J.P., Vandenput, L., van der Laan, S.W., van der Velde, N., van Setten, J., van Vliet-Ostaptchouk, J.V., Verweij, N., Vlachopoulou, E., Waite, L.L., Wang, S.R., Wang, Z., Wild, S.H., Willenborg, C., Wilson, J.F., Wong, A., Yang, J., Yengo, L., Yerges-Armstrong, L.M., Yu, L., Zhang, W., Zhao, J.H., Andersson, E.A., Bakker, S.J., Baldassarre, D., Banasik, K., Barcella, M., Barlassina, C., Bellis, C., Benaglio, P., Blangero, J., Blüher, M., Bonnet, F., Bonnycastle, L.L., Boyd, H.A., Bruinenberg, M., Buchman, A.S., Campbell, H., Chen, Y.I., Chines, P.S., Claudi-Boehm, S., Cole, J., Collins, F.S., de Geus, E.J., de Groot, L.C., Dimitriou, M., Duan, J., Enroth, S., Eury, E., Farmaki, A.E., Forouhi, N.G., Friedrich, N., Gejman, P.V., Gigante, B., Glorioso, N., Go, A.S., Gottesman, O., Gräßler, J., Grallert, H., Grarup, N., Gu, Y.M., Broer, L., Ham, A.C., Hansen, T., Harris, T.B., Hartman, C.A., Hassinen, M., Hastie, N., Hattersley, A.T., Heath, A.C., Henders, A.K., Hernandez, D., Hillege, H., Holmen, O., Hovingh, K.G., Hui, J., Husemoen, L.L., Hutri-Kähönen, N., Hysi, P.G., Illig, T., De Jager, P.L., Jalilzadeh, S., Jørgensen, T., Jukema, J.W., Juonala, M., Kanoni, S., Karaleftheri, M., Khaw, K.T., Kinnunen, L., Kittner, S.J., Koenig, W., Kolcic, I., Kovacs, P., Krarup, N.T., Kratzer, W., Krüger, J., Kuh, D., Kumari, M., Kyriakou, T., Langenberg, C., Lannfelt, L., Lanzani, C., Lotay, V., Launer, L.J., Leander, K., Lindström, J., Linneberg, A., Liu, Y.P., Lobbens, S., Luben, R., Lyssenko, V., Männistö, S., Magnusson, P.K., McArdle, W.L., Menni, C., Merger, S., Milani, L., Montgomery, G.W., Morris, A.P., Narisu, N., Nelis, M., Ong, K.K., Palotie, A., Pérusse, L., Pichler, I., Pilia, M.G., Pouta, A., Rheinberger, M., Ribel-Madsen, R., Richards, M., Rice, K.M., Rice, T.K., Rivolta, C., Salomaa, V., Sanders, A.R., Sarzynski, M.A., Scholtens, S., Scott, R.A., Scott, W.R., Sebert, S., Sengupta, S., Sennblad, B., Seufferlein, T., Silveira, A., Slagboom, P.E., Smit, J.H., Sparsø, T.H., Stirrups, K., Stolk, R.P., Stringham, H.M., Swertz, M.A., Swift, A.J., Syvänen, A.C., Tan, S.T., Thorand, B., Tönjes, A., Tremblay, A., Tsafantakis, E., van der Most, P.J., Völker, U., Vohl, M.C., Vonk, J.M., Waldenberger, M., Walker, R.W., Wennauer, R., Widén, E., Willemsen, G., Wilsgaard, T., Wright, A.F., Zillikens, M.C., van Dijk, S.C., van Schoor, N.M., Asselbergs, F.W., de Bakker, P.I., Beckmann, J.S., Beilby, J., Bennett, D.A., Bergman, R.N., Bergmann, S., Böger, C.A., Boehm, B.O., Boerwinkle, E., Boomsma, D.I., Bornstein, S.R., Bottinger, E.P., Bouchard, C., Chambers, J.C., Chanock, S.J., Chasman, D.I., Cucca, F., Cusi, D., Dedoussis, G., Erdmann, J., Eriksson, J.G., Evans, D.A., de Faire, U., Farrall, M., Ferrucci, L., Ford, I., Franke, L., Franks, P.W., Froguel, P., Gansevoort, R.T., Gieger, C., Grönberg, H., Gudnason, V., Gyllensten, U., Hall, P., Hamsten, A., van der Harst, P., Hayward, C., Heliövaara, M., Hengstenberg, C., Hicks, A.A., Hingorani, A., Hofman, A., Hu, F., Huikuri, H.V., Hveem, K., James, A.L., Jordan, J.M., Jula, A., Kähönen, M., Kajantie, E., Kathiresan, S., Kiemeney, L.A., Kivimaki, M., Knekt, P.B., Koistinen, H.A., Kooner, J.S., Koskinen, S., Kuusisto, J., Maerz, W., Martin, N.G., Laakso, M., Lakka, T.A., Lehtimäki, T., Lettre, G., Levinson, D.F., Lind, L., Lokki, M.L., Mäntyselkä, P., Melbye, M., Metspalu, A., Mitchell, B.D., Moll, F.L., Murray, J.C., Musk, A.W., Nieminen, M.S., Njølstad, I., Ohlsson, C., Oldehinkel, A.J., Oostra, B.A., Palmer, L.J., Pankow, J.S., Pasterkamp, G., Pedersen, N.L., Pedersen, O., Penninx, B.W., Perola, M., Peters, A., Polaek, O., Pramstaller, P.P., Psaty, B.M., Qi, L., Quertermous, T., Raitakari, O.T., Rankinen, T., Rauramaa, R., Ridker, P.M., Rioux, J.D., Rivadeneira, F., Rotter, J.I., Rudan, I., den Ruijter, H.M., Saltevo, J., Sattar, N., Schunkert, H., Schwarz, P.E., Shuldiner, A.R., Sinisalo, J., Snieder, H., Sørensen, T.I., Spector, T.D., Staessen, J.A., Stefania, B., Thorsteinsdottir, U., Stumvoll, M., Tardif, J.C., Tremoli, E., Tuomilehto, J., Uitterlinden, A.G., Uusitupa, M., Verbeek, A.L., Vermeulen, S.H., Viikari, J.S., Vitart, V., Völzke, H., Vollenweider, P., Waeber, G., Walker, M., Wallaschofski, H., Wareham, N.J., Watkins, H., Zeggini, E., arcOGEN, Consortium, CHARGE, Consortium, DIAGRAM, Consortium, GLGC, Consortium, Global-BPGen, Consortium, ICBP, Consortium, MAGIC, Consortium, Chakravarti, A., Clegg, D.J., Cupples, L.A., Gordon-Larsen, P., Jaquish, C.E., Rao, D.C., Abecasis, G.R., Assimes, T.L., Barroso, I., Berndt, S.I., Boehnke, M., Deloukas, P., Fox, C.S., Groop, L.C., Hunter, D.J., Ingelsson, E., Kaplan, R.C., McCarthy, M.I., Mohlke, K.L., O'Connell, J.R., Schlessinger, D., Strachan, D.P., Stefansson, K., van Duijn, C.M., Hirschhorn, J.N., Lindgren, C.M., Heid, I.M., North, K.E., Borecki, I.B., Kutalik, Z., Loos, R.J., Winkler, T.W., Justice, A.E., Graff, M., Barata, L., Feitosa, M.F., Chu, S., Czajkowski, J., Esko, T., Fall, T., Kilpeläinen, T.O., Lu, Y., Mägi, R., Mihailov, E., Pers, T.H., Rüeger, S., Teumer, A., Ehret, G.B., Ferreira, T., Heard-Costa, N.L., Karjalainen, J., Lagou, V., Mahajan, A., Neinast, M.D., Prokopenko, I., Simino, J., Teslovich, T.M., Jansen, R., Westra, H.J., White, C.C., Absher, D., Ahluwalia, T.S., Ahmad, S., Albrecht, E., Alves, A.C., Bragg-Gresham, J.L., de Craen, A.J., Bis, J.C., Bonnefond, A., Boucher, G., Cadby, G., Cheng, Y.C., Chiang, C.W., Delgado, G., Demirkan, A., Dueker, N., Eklund, N., Eiriksdottir, G., Eriksson, J., Feenstra, B., Fischer, K., Frau, F., Galesloot, T.E., Geller, F., Goel, A., Gorski, M., Grammer, T.B., Gustafsson, S., Haitjema, S., Hottenga, J.J., Huffman, J.E., Jackson, A.U., Jacobs, K.B., Johansson, Å., Kaakinen, M., Kleber, M.E., Lahti, J., Mateo Leach, I., Lehne, B., Liu, Y., Lo, K.S., Lorentzon, M., Luan, J., Madden, P.A., Mangino, M., McKnight, B., Medina-Gomez, C., Monda, K.L., Montasser, M.E., Müller, G., Müller-Nurasyid, M., Nolte, I.M., Panoutsopoulou, K., Pascoe, L., Paternoster, L., Rayner, N.W., Renström, F., Rizzi, F., Rose, L.M., Ryan, K.A., Salo, P., Sanna, S., Scharnagl, H., Shi, J., Smith, A.V., Southam, L., Stančáková, A., Steinthorsdottir, V., Strawbridge, R.J., Sung, Y.J., Tachmazidou, I., Tanaka, T., Thorleifsson, G., Trompet, S., Pervjakova, N., Tyrer, J.P., Vandenput, L., van der Laan, S.W., van der Velde, N., van Setten, J., van Vliet-Ostaptchouk, J.V., Verweij, N., Vlachopoulou, E., Waite, L.L., Wang, S.R., Wang, Z., Wild, S.H., Willenborg, C., Wilson, J.F., Wong, A., Yang, J., Yengo, L., Yerges-Armstrong, L.M., Yu, L., Zhang, W., Zhao, J.H., Andersson, E.A., Bakker, S.J., Baldassarre, D., Banasik, K., Barcella, M., Barlassina, C., Bellis, C., Benaglio, P., Blangero, J., Blüher, M., Bonnet, F., Bonnycastle, L.L., Boyd, H.A., Bruinenberg, M., Buchman, A.S., Campbell, H., Chen, Y.I., Chines, P.S., Claudi-Boehm, S., Cole, J., Collins, F.S., de Geus, E.J., de Groot, L.C., Dimitriou, M., Duan, J., Enroth, S., Eury, E., Farmaki, A.E., Forouhi, N.G., Friedrich, N., Gejman, P.V., Gigante, B., Glorioso, N., Go, A.S., Gottesman, O., Gräßler, J., Grallert, H., Grarup, N., Gu, Y.M., Broer, L., Ham, A.C., Hansen, T., Harris, T.B., Hartman, C.A., Hassinen, M., Hastie, N., Hattersley, A.T., Heath, A.C., Henders, A.K., Hernandez, D., Hillege, H., Holmen, O., Hovingh, K.G., Hui, J., Husemoen, L.L., Hutri-Kähönen, N., Hysi, P.G., Illig, T., De Jager, P.L., Jalilzadeh, S., Jørgensen, T., Jukema, J.W., Juonala, M., Kanoni, S., Karaleftheri, M., Khaw, K.T., Kinnunen, L., Kittner, S.J., Koenig, W., Kolcic, I., Kovacs, P., Krarup, N.T., Kratzer, W., Krüger, J., Kuh, D., Kumari, M., Kyriakou, T., Langenberg, C., Lannfelt, L., Lanzani, C., Lotay, V., Launer, L.J., Leander, K., Lindström, J., Linneberg, A., Liu, Y.P., Lobbens, S., Luben, R., Lyssenko, V., Männistö, S., Magnusson, P.K., McArdle, W.L., Menni, C., Merger, S., Milani, L., Montgomery, G.W., Morris, A.P., Narisu, N., Nelis, M., Ong, K.K., Palotie, A., Pérusse, L., Pichler, I., Pilia, M.G., Pouta, A., Rheinberger, M., Ribel-Madsen, R., Richards, M., Rice, K.M., Rice, T.K., Rivolta, C., Salomaa, V., Sanders, A.R., Sarzynski, M.A., Scholtens, S., Scott, R.A., Scott, W.R., Sebert, S., Sengupta, S., Sennblad, B., Seufferlein, T., Silveira, A., Slagboom, P.E., Smit, J.H., Sparsø, T.H., Stirrups, K., Stolk, R.P., Stringham, H.M., Swertz, M.A., Swift, A.J., Syvänen, A.C., Tan, S.T., Thorand, B., Tönjes, A., Tremblay, A., Tsafantakis, E., van der Most, P.J., Völker, U., Vohl, M.C., Vonk, J.M., Waldenberger, M., Walker, R.W., Wennauer, R., Widén, E., Willemsen, G., Wilsgaard, T., Wright, A.F., Zillikens, M.C., van Dijk, S.C., van Schoor, N.M., Asselbergs, F.W., de Bakker, P.I., Beckmann, J.S., Beilby, J., Bennett, D.A., Bergman, R.N., Bergmann, S., Böger, C.A., Boehm, B.O., Boerwinkle, E., Boomsma, D.I., Bornstein, S.R., Bottinger, E.P., Bouchard, C., Chambers, J.C., Chanock, S.J., Chasman, D.I., Cucca, F., Cusi, D., Dedoussis, G., Erdmann, J., Eriksson, J.G., Evans, D.A., de Faire, U., Farrall, M., Ferrucci, L., Ford, I., Franke, L., Franks, P.W., Froguel, P., Gansevoort, R.T., Gieger, C., Grönberg, H., Gudnason, V., Gyllensten, U., Hall, P., Hamsten, A., van der Harst, P., Hayward, C., Heliövaara, M., Hengstenberg, C., Hicks, A.A., Hingorani, A., Hofman, A., Hu, F., Huikuri, H.V., Hveem, K., James, A.L., Jordan, J.M., Jula, A., Kähönen, M., Kajantie, E., Kathiresan, S., Kiemeney, L.A., Kivimaki, M., Knekt, P.B., Koistinen, H.A., Kooner, J.S., Koskinen, S., Kuusisto, J., Maerz, W., Martin, N.G., Laakso, M., Lakka, T.A., Lehtimäki, T., Lettre, G., Levinson, D.F., Lind, L., Lokki, M.L., Mäntyselkä, P., Melbye, M., Metspalu, A., Mitchell, B.D., Moll, F.L., Murray, J.C., Musk, A.W., Nieminen, M.S., Njølstad, I., Ohlsson, C., Oldehinkel, A.J., Oostra, B.A., Palmer, L.J., Pankow, J.S., Pasterkamp, G., Pedersen, N.L., Pedersen, O., Penninx, B.W., Perola, M., Peters, A., Polaek, O., Pramstaller, P.P., Psaty, B.M., Qi, L., Quertermous, T., Raitakari, O.T., Rankinen, T., Rauramaa, R., Ridker, P.M., Rioux, J.D., Rivadeneira, F., Rotter, J.I., Rudan, I., den Ruijter, H.M., Saltevo, J., Sattar, N., Schunkert, H., Schwarz, P.E., Shuldiner, A.R., Sinisalo, J., Snieder, H., Sørensen, T.I., Spector, T.D., Staessen, J.A., Stefania, B., Thorsteinsdottir, U., Stumvoll, M., Tardif, J.C., Tremoli, E., Tuomilehto, J., Uitterlinden, A.G., Uusitupa, M., Verbeek, A.L., Vermeulen, S.H., Viikari, J.S., Vitart, V., Völzke, H., Vollenweider, P., Waeber, G., Walker, M., Wallaschofski, H., Wareham, N.J., Watkins, H., Zeggini, E., arcOGEN, Consortium, CHARGE, Consortium, DIAGRAM, Consortium, GLGC, Consortium, Global-BPGen, Consortium, ICBP, Consortium, MAGIC, Consortium, Chakravarti, A., Clegg, D.J., Cupples, L.A., Gordon-Larsen, P., Jaquish, C.E., Rao, D.C., Abecasis, G.R., Assimes, T.L., Barroso, I., Berndt, S.I., Boehnke, M., Deloukas, P., Fox, C.S., Groop, L.C., Hunter, D.J., Ingelsson, E., Kaplan, R.C., McCarthy, M.I., Mohlke, K.L., O'Connell, J.R., Schlessinger, D., Strachan, D.P., Stefansson, K., van Duijn, C.M., Hirschhorn, J.N., Lindgren, C.M., Heid, I.M., North, K.E., Borecki, I.B., Kutalik, Z., and Loos, R.J.
Abstract: This corrects the article DOI: 10.1371/journal.pgen.1005378.
Published: 2016

22. The Lin28/let-7 axis regulates glucose metabolism

Author: Zhu H, Shyh Chang N, Segrè AV, Shinoda G, Shah SP, Einhorn WS, Takeuchi A, Engreitz JM, Hagan JP, Kharas MG, Urbach A, Thornton JE, Triboulet R, Gregory RI, DIAGRAM Consortium, MAGIC Investigators, Altshuler D, Daley G.Q. Voight BF, Scott LJ, Steinthorsdottir V, Morris AP, Dina C, Welch RP, Zeggini E, Huth C, Aulchenko YS, Thorleifsson G, McCulloch LJ, Ferreira T, Grallert H, Amin N, Wu G, Willer CJ, Raychaudhuri S, McCarroll SA, Langenberg C, Hofmann OM, Dupuis J, Qi L, van Hoek M, Navarro P, Ardlie K, Balkau B, Benediktsson R, Bennett AJ, Blagieva R, Boerwinkle E, Bonnycastle LL, Boström KB, Bravenboer B, Bumpstead S, Burtt NP, Charpentier G, Chines PS, Cornelis M, Couper DJ, Crawford G, Doney AS, Elliott KS, Elliott AL, Erdos MR, Fox CS, Franklin CS, Ganser M, Gieger C, Grarup N, Green T, Griffin S, Groves CJ, Guiducci C, Hadjadj S, Hassanali N, Herder C, Isomaa B, Jackson AU, Johnson PR, Jørgensen T, Kao WH, Klopp N, Kong A, Kraft P, Kuusisto J, Lauritzen T, Li M, Lieverse A, Lindgren CM, Lyssenko V, Marre M, Meitinger T, Midthjell K, Morken MA, Narisu N, Nilsson P, Owen KR, Payne F, Perry JR, Petersen AK, Platou C, Proença C, Prokopenko I, Rathmann W, Rayner NW, Robertson NR, Rocheleau G, Roden M, Sampson MJ, Saxena R, Shields BM, Shrader P, Sigurdsson G, Sparsø T, Strassburger K, Stringham HM, Sun Q, Swift AJ, Thorand B, Tichet J, Tuomi T, van Dam RM, van Haeften TW, van Herpt T, van Vliet Ostaptchouk JV, Walters GB, Weedon MN, Wijmenga C, Witteman J, Bergman RN, Cauchi S, Collins FS, Gloyn AL, Gyllensten U, Hansen T, Hide WA, Hitman GA, Hofman A, Hunter DJ, Hveem K, Laakso M, Mohlke KL, Morris AD, Palmer CN, Pramstaller PP, Rudan I, Sijbrands E, Stein LD, Tuomilehto J, Uitterlinden A, Walker M, Wareham NJ, Watanabe RM, Abecasis GR, Boehm BO, Campbell H, Daly MJ, Hattersley AT, Hu FB, Meigs JB, Pankow JS, Pedersen O, Wichmann HE, Barroso I, Florez JC, Frayling TM, Groop L, Sladek R, Thorsteinsdottir U, Wilson JF, Illig T, Froguel P, van Duijn CM, Stefansson K, Boehnke M, McCarthy MI, Soranzo N, Wheeler E, Glazer NL, Bouatia Naji N, Mägi R, Randall J, Johnson T, Elliott P, Rybin D, Henneman P, Dehghan A, Hottenga JJ, Song K, Goel A, Egan JM, Lajunen T, Doney A, Voight BF, Kanoni S, Cavalcanti Proença C, Kumari M, Timpson NJ, Zabena C, Ingelsson E, An P, O'Connell J, Luan J, Elliott A, Roccasecca RM, Pattou F, Sethupathy P, Ariyurek Y, Barter P, Beilby JP, Ben Shlomo Y, Bergmann S, Bochud M, Bonnefond A, Borch Johnsen K, Böttcher Y, Brunner E, Bumpstead SJ, Chen YD, Chines P, Clarke R, Coin LJ, Cooper MN, Crisponi L, Day IN, de Geus EJ, Delplanque J, Fedson AC, Fischer Rosinsky A, Forouhi NG, Frants R, Franzosi MG, Galan P, Goodarzi MO, Graessler J, Grundy S, Gwilliam R, Hallmans G, Hammond N, Han X, Hartikainen AL, Hayward C, Heath SC, Hercberg S, Hicks AA, Hillman DR, Hingorani AD, Hui J, Hung J, Jula A, Kaakinen M, Kaprio J, Kesaniemi YA, Kivimaki M, Knight B, Koskinen S, Kovacs P, Kyvik KO, Lathrop GM, Lawlor DA, Le Bacquer O, Lecoeur C, Li Y, Mahley R, Mangino M, Manning AK, Martínez Larrad MT, McAteer JB, McPherson R, Meisinger C, Melzer D, Meyre D, Mitchell BD, Mukherjee S, Naitza S, Neville MJ, Oostra BA, Orrù M, Pakyz R, Pattaro C, Pearson D, Peden JF, Pedersen NL, Perola M, Pfeiffer AF, Pichler I, Polasek O, Posthuma D, Potter SC, Pouta A, Province MA, Psaty BM, Rice K, Ripatti S, Rivadeneira F, Rolandsson O, Sandbaek A, Sandhu M, Sanna S, Sayer AA, Scheet P, Seedorf U, Sharp SJ, Shields B, Sigurðsson G, Sijbrands EJ, Silveira A, Simpson L, Singleton A, Smith NL, Sovio U, Swift A, Syddall H, Syvänen AC, Tanaka T, Tönjes A, Uitterlinden AG, van Dijk KW, Varma D, Visvikis Siest S, Vitart V, Vogelzangs N, Waeber G, Wagner PJ, Walley A, Ward KL, Watkins H, Wild SH, Willemsen G, Witteman JC, Yarnell JW, Zelenika D, Zethelius B, Zhai G, Zhao JH, Zillikens MC, Borecki IB, Loos RJ, Meneton P, Magnusson PK, Nathan DM, Williams GH, Silander K, Salomaa V, Smith GD, Bornstein SR, Schwarz P, Spranger J, Karpe F, Shuldiner AR, Cooper C, Dedoussis GV, Serrano Ríos M, Lind L, Palmer LJ, Franks PW, Ebrahim S, Marmot M, Wright AF, Stumvoll M, Hamsten A, Buchanan TA, Valle TT, Rotter JI, Siscovick DS, Penninx BW, Boomsma DI, Deloukas P, Spector TD, Ferrucci L, Cao A, Scuteri A, Schlessinger D, Uda M, Ruokonen A, Jarvelin MR, Waterworth DM, Vollenweider P, Peltonen L, Mooser V, Barroso I., PAOLISSO, Giuseppe, Zhu, H, Shyh Chang, N, Segrè, Av, Shinoda, G, Shah, Sp, Einhorn, W, Takeuchi, A, Engreitz, Jm, Hagan, Jp, Kharas, Mg, Urbach, A, Thornton, Je, Triboulet, R, Gregory, Ri, Diagram, Consortium, Magic, Investigator, Altshuler, D, Voight BF, Daley G. Q., Scott, Lj, Steinthorsdottir, V, Morris, Ap, Dina, C, Welch, Rp, Zeggini, E, Huth, C, Aulchenko, Y, Thorleifsson, G, Mcculloch, Lj, Ferreira, T, Grallert, H, Amin, N, Wu, G, Willer, Cj, Raychaudhuri, S, Mccarroll, Sa, Langenberg, C, Hofmann, Om, Dupuis, J, Qi, L, van Hoek, M, Navarro, P, Ardlie, K, Balkau, B, Benediktsson, R, Bennett, Aj, Blagieva, R, Boerwinkle, E, Bonnycastle, Ll, Boström, Kb, Bravenboer, B, Bumpstead, S, Burtt, Np, Charpentier, G, Chines, P, Cornelis, M, Couper, Dj, Crawford, G, Doney, A, Elliott, K, Elliott, Al, Erdos, Mr, Fox, C, Franklin, C, Ganser, M, Gieger, C, Grarup, N, Green, T, Griffin, S, Groves, Cj, Guiducci, C, Hadjadj, S, Hassanali, N, Herder, C, Isomaa, B, Jackson, Au, Johnson, Pr, Jørgensen, T, Kao, Wh, Klopp, N, Kong, A, Kraft, P, Kuusisto, J, Lauritzen, T, Li, M, Lieverse, A, Lindgren, Cm, Lyssenko, V, Marre, M, Meitinger, T, Midthjell, K, Morken, Ma, Narisu, N, Nilsson, P, Owen, Kr, Payne, F, Perry, Jr, Petersen, Ak, Platou, C, Proença, C, Prokopenko, I, Rathmann, W, Rayner, Nw, Robertson, Nr, Rocheleau, G, Roden, M, Sampson, Mj, Saxena, R, Shields, Bm, Shrader, P, Sigurdsson, G, Sparsø, T, Strassburger, K, Stringham, Hm, Sun, Q, Swift, Aj, Thorand, B, Tichet, J, Tuomi, T, van Dam, Rm, van Haeften, Tw, van Herpt, T, van Vliet Ostaptchouk, Jv, Walters, Gb, Weedon, Mn, Wijmenga, C, Witteman, J, Bergman, Rn, Cauchi, S, Collins, F, Gloyn, Al, Gyllensten, U, Hansen, T, Hide, Wa, Hitman, Ga, Hofman, A, Hunter, Dj, Hveem, K, Laakso, M, Mohlke, Kl, Morris, Ad, Palmer, Cn, Pramstaller, Pp, Rudan, I, Sijbrands, E, Stein, Ld, Tuomilehto, J, Uitterlinden, A, Walker, M, Wareham, Nj, Watanabe, Rm, Abecasis, Gr, Boehm, Bo, Campbell, H, Daly, Mj, Hattersley, At, Hu, Fb, Meigs, Jb, Pankow, J, Pedersen, O, Wichmann, He, Barroso, I, Florez, Jc, Frayling, Tm, Groop, L, Sladek, R, Thorsteinsdottir, U, Wilson, Jf, Illig, T, Froguel, P, van Duijn, Cm, Stefansson, K, Boehnke, M, Mccarthy, Mi, Soranzo, N, Wheeler, E, Glazer, Nl, Bouatia Naji, N, Mägi, R, Randall, J, Johnson, T, Elliott, P, Rybin, D, Henneman, P, Dehghan, A, Hottenga, Jj, Song, K, Goel, A, Egan, Jm, Lajunen, T, Voight, Bf, Kanoni, S, Cavalcanti Proença, C, Kumari, M, Timpson, Nj, Zabena, C, Ingelsson, E, An, P, O'Connell, J, Luan, J, Elliott, A, Roccasecca, Rm, Pattou, F, Sethupathy, P, Ariyurek, Y, Barter, P, Beilby, Jp, Ben Shlomo, Y, Bergmann, S, Bochud, M, Bonnefond, A, Borch Johnsen, K, Böttcher, Y, Brunner, E, Bumpstead, Sj, Chen, Yd, Clarke, R, Coin, Lj, Cooper, Mn, Crisponi, L, Day, In, de Geus, Ej, Delplanque, J, Fedson, Ac, Fischer Rosinsky, A, Forouhi, Ng, Frants, R, Franzosi, Mg, Galan, P, Goodarzi, Mo, Graessler, J, Grundy, S, Gwilliam, R, Hallmans, G, Hammond, N, Han, X, Hartikainen, Al, Hayward, C, Heath, Sc, Hercberg, S, Hicks, Aa, Hillman, Dr, Hingorani, Ad, Hui, J, Hung, J, Jula, A, Kaakinen, M, Kaprio, J, Kesaniemi, Ya, Kivimaki, M, Knight, B, Koskinen, S, Kovacs, P, Kyvik, Ko, Lathrop, Gm, Lawlor, Da, Le Bacquer, O, Lecoeur, C, Li, Y, Mahley, R, Mangino, M, Manning, Ak, Martínez Larrad, Mt, Mcateer, Jb, Mcpherson, R, Meisinger, C, Melzer, D, Meyre, D, Mitchell, Bd, Mukherjee, S, Naitza, S, Neville, Mj, Oostra, Ba, Orrù, M, Pakyz, R, Paolisso, Giuseppe, Pattaro, C, Pearson, D, Peden, Jf, Pedersen, Nl, Perola, M, Pfeiffer, Af, Pichler, I, Polasek, O, Posthuma, D, Potter, Sc, Pouta, A, Province, Ma, Psaty, Bm, Rice, K, Ripatti, S, Rivadeneira, F, Rolandsson, O, Sandbaek, A, Sandhu, M, Sanna, S, Sayer, Aa, Scheet, P, Seedorf, U, Sharp, Sj, Shields, B, Sigurðsson, G, Sijbrands, Ej, Silveira, A, Simpson, L, Singleton, A, Smith, Nl, Sovio, U, Swift, A, Syddall, H, Syvänen, Ac, Tanaka, T, Tönjes, A, Uitterlinden, Ag, van Dijk, Kw, Varma, D, Visvikis Siest, S, Vitart, V, Vogelzangs, N, Waeber, G, Wagner, Pj, Walley, A, Ward, Kl, Watkins, H, Wild, Sh, Willemsen, G, Witteman, Jc, Yarnell, Jw, Zelenika, D, Zethelius, B, Zhai, G, Zhao, Jh, Zillikens, Mc, Borecki, Ib, Loos, Rj, Meneton, P, Magnusson, Pk, Nathan, Dm, Williams, Gh, Silander, K, Salomaa, V, Smith, Gd, Bornstein, Sr, Schwarz, P, Spranger, J, Karpe, F, Shuldiner, Ar, Cooper, C, Dedoussis, Gv, Serrano Ríos, M, Lind, L, Palmer, Lj, Franks, Pw, Ebrahim, S, Marmot, M, Wright, Af, Stumvoll, M, Hamsten, A, Buchanan, Ta, Valle, Tt, Rotter, Ji, Siscovick, D, Penninx, Bw, Boomsma, Di, Deloukas, P, Spector, Td, Ferrucci, L, Cao, A, Scuteri, A, Schlessinger, D, Uda, M, Ruokonen, A, Jarvelin, Mr, Waterworth, Dm, Vollenweider, P, Peltonen, L, Mooser, V, and Barroso, I.
Published: 2011

23. ParkScreen: A linkage marker panel for Parkinson's disease (PD)

Author: Volpato CB, De Grandi A, Bedin E, Pichler I, Pedrotti S, Pramstaller P., CASARI , GIORGIO NEVIO, Volpato, Cb, De Grandi, A, Bedin, E, Pichler, I, Pedrotti, S, Casari, GIORGIO NEVIO, and Pramstaller, P.
Published: 2006

24. The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

Author: Winkler, T.W. (Thomas W.), Justice, A.E. (Anne), Graff, M.J. (Maud J.L.), Barata, L. (Llilda), Feitosa, M.F. (Mary Furlan), Chu, S. (Su), Czajkowski, J. (Jacek), Esko, T. (Tõnu), Fall, M. (Magnus), Kilpeläinen, T.O. (Tuomas), Lu, Y. (Yingchang), Mägi, R. (Reedik), Mihailov, E. (Evelin), Pers, T.H. (Tune), Rüeger, S. (Sina), Teumer, A. (Alexander), Ehret, G.B. (Georg), Ferreira, T. (Teresa), Heard-Costa, N.L. (Nancy), Karjalainen, J. (Juha), Lagou, V. (Vasiliki), Mahajan, A. (Anubha), Neinast, M.D. (Michael D.), Prokopenko, I. (Inga), Simino, J. (Jeannette), Teslovich, T.M. (Tanya M.), Jansen, R., Westra, H.J. (Harm-Jan), White, C.C. (Charles), Absher, D. (Devin), Ahluwalia, T.S. (Tarunveer Singh), Ahmad, S. (Shafqat), Albrecht, E. (Eva), Alves, A.C. (Alexessander Couto), Bragg-Gresham, J.L. (Jennifer L.), Craen, A.J. (Anton) de, Bis, J.C. (Joshua), Bonnefond, A. (Amélie), Boucher, G. (Gabrielle), Cadby, G. (Gemma), Cheng, Y.-C. (Yu-Ching), Chiang, C.W. (Charleston W K), Delgado, G., Demirkan, A. (Ayşe), Dueker, N. (Nicole), Eklund, N. (Niina), Eiriksdottir, G. (Gudny), Eriksson, J. (Joel), Feenstra, B. (Bjarke), Fischer, K. (Krista), Frau, F. (Francesca), Galesloot, T.E. (Tessel), Geller, F. (Frank), Goel, A. (Anuj), Gorski, M. (Mathias), Grammer, T.B. (Tanja), Gustafsson, S. (Stefan), Haitjema, S. (Saskia), Hottenga, J.J. (Jouke Jan), Huffman, J.E. (Jennifer), Jackson, A.U. (Anne), Jacobs, K.B. (Kevin), Johansson, A. (Åsa), Kaakinen, M. (Marika), Kleber, M.E. (Marcus), Lahti, J. (Jari), Leach, I.M. (Irene Mateo), Lehne, B. (Benjamin), Liu, Y. (Youfang), Lo, K.S., Lorentzon, M. (Mattias), Luan, J. (Jian'An), Madden, P.A. (Pamela), Mangino, M. (Massimo), McKnight, B. (Barbara), Medina-Gomez, C. (Carolina), Monda, K.L. (Keri), Montasser, M.E. (May E.), Müller, G. (Gabriele), Müller-Nurasyid, M. (Martina), Nolte, I.M. (Ilja), Panoutsopoulou, K. (Kalliope), Pascoe, L. (Laura), Paternoster, L. (Lavinia), Rayner, N.W. (Nigel William), Renström, F. (Frida), Rizzi, F. (Federica), Rose, L.M. (Lynda), Ryan, K.A. (Kathy A.), Salo, P. (Perttu), Sanna, S. (Serena), Scharnagl, H. (Hubert), Shi, J. (Jianxin), Smith, A.V. (Albert Vernon), Southam, L. (Lorraine), Stancáková, A. (Alena), Steinthorsdottir, V. (Valgerdur), Strawbridge, R.J. (Rona), Sung, Y.J. (Yun Ju), Tachmazidou, I. (Ioanna), Tanaka, T. (Toshiko), Thorleifsson, G. (Gudmar), Trompet, S. (Stella), Pervjakova, N. (Natalia), Tyrer, J.P. (Jonathan), Vandenput, L. (Liesbeth), Van Der Laan, S.W. (Sander W.), Velde, N. (Nathalie) van der, Setten, J. (Jessica) van, Vliet-Ostaptchouk, J.V. (Jana) van, Verweij, N. (Niek), Vlachopoulou, E. (Efthymia), Waite, L. (Lindsay), Wang, S.R. (Sophie), Wang, Z. (Zhaoming), Wild, S.H. (Sarah), Willenborg, C. (Christina), Wilson, J.F. (James), Wong, A. (Andrew), Yang, J. (Jian), Yengo, L. (Loic), Yerges-Armstrong, L.M. (Laura), Yu, L. (Lei), Zhang, W. (Weihua), Zhao, J.H. (Jing Hua), Andersson, E.A. (Ehm Astrid), Bakker, S.J.L. (Stephan), Baldassarre, D. (Damiano), Banasik, K. (Karina), Barcella, M. (Matteo), Barlassina, C. (Cristina), Bellis, C. (Claire), Benaglio, P. (Paola), Blangero, J. (John), Blüher, M. (Matthias), Bonnet, F. (Fabrice), Bonnycastle, L.L. (Lori), Boyd, H.A. (Heather), Bruinenberg, M. (M.), Buchman, A.S. (Aron S.), Campbell, H. (Harry), Chen, Y.D. (Y.), Chines, P.S. (Peter), Claudi-Boehm, S. (Simone), Cole, J.W. (John W.), Collins, F.S. (Francis), Geus, E.J.C. (Eco) de, Groot, L.C.P.G.M. (Lisette) de, Dimitriou, M. (Maria), Duan, J. (Jubao), Enroth, S. (Stefan), Eury, E. (Elodie), Farmaki, A.-E. (Aliki-Eleni), Forouhi, N.G. (Nita), Friedrich, N. (Nele), Gejman, P.V. (Pablo), Gigante, B. (Bruna), Glorioso, N. (Nicola), Go, A.T.J.I. (Attie), Gottesman, R.F. (Rebecca), Gräßler, J. (Jürgen), Grallert, H. (Harald), Grarup, N. (Niels), Gu, Y.-M. (Yu-Mei), Broer, L. (Linda), Ham, A.C. (Annelies), Hansen, T. (T.), Harris, T.B. (Tamara), Hartman, C.A. (Catharina A.), Hassinen, M. (Maija), Hastie, N. (Nick), Hattersley, A.T. (Andrew), Heath, A.C. (Andrew), Henders, A.K. (Anjali), Hernandez, D.G. (Dena), Hillege, H.L. (Hans), Holmen, O.L. (Oddgeir), Hovingh, G.K. (Kees), Hui, J. (Jennie), Husemoen, L.L. (Lise L.), Hutri-Kähönen, N. (Nina), Hysi, P.G. (Pirro), Illig, T. (Thomas), Jager, P.L. (Philip) de, Jalilzadeh, S. (Shapour), Jorgensen, T. (Torben), Jukema, J.W. (Jan Wouter), Juonala, M. (Markus), Kanoni, S. (Stavroula), Karaleftheri, M. (Maria), Khaw, K.T., Kinnunen, L. (Leena), Kittner, T. (Thomas), Koenig, W. (Wolfgang), Kolcic, I. (Ivana), Kovacs, P. (Peter), Krarup, N.T. (Nikolaj T.), Kratzer, W. (Wolfgang), Krüger, J. (Janine), Kuh, D. (Diana), Kumari, M. (Meena), Kyriakou, T. (Theodosios), Langenberg, C. (Claudia), Lannfelt, L. (Lars), Lanzani, C. (Chiara), Lotay, V. (Vaneet), Launer, L.J. (Lenore), Leander, K. (Karin), Lindström, J. (Jaana), Linneberg, A. (Allan), Liu, Y.-P. (Yan-Ping), Lobbens, S. (Stéphane), Luben, R.N. (Robert), Lyssenko, V. (Valeriya), Männistö, S. (Satu), Magnusson, P.K. (Patrik), McArdle, W.L. (Wendy), Menni, C. (Cristina), Merger, S. (Sigrun), Milani, L. (Lili), Montgomery, G.W. (Grant W.), Morris, A.P. (Andrew), Narisu, N. (Narisu), Nelis, M. (Mari), Ong, K.K. (Ken), Palotie, A. (Aarno), Perusse, L. (Louis), Pichler, I. (Irene), Pilia, M.G. (Maria Grazia), Pouta, A. (Anneli), Rheinberger, M. (Myriam), Ribel-Madsen, R. (Rasmus), Richards, M. (Marcus), Rice, K.M. (Kenneth), Rice, T.K. (Treva K.), Rivolta, C. (Carlo), Salomaa, V. (Veikko), Sanders, A.R. (Alan), Sarzynski, M.A. (Mark A.), Scholtens, S. (Salome), Scott, R.A. (Robert), Scott, W.R. (William R.), Sebert, S. (Sylvain), Sengupta, S. (Sebanti), Sennblad, B. (Bengt), Seufferlein, T. (Thomas), Silveira, A. (Angela), Slagboom, P.E. (Eline), Smit, J.H. (Jan), Sparsø, T. (Thomas), Stirrups, K. (Kathy), Stolk, R.P. (Ronald), Stringham, H.M. (Heather), Swertz, M.A. (Morris A.), Swift, A.J. (Amy), Syvänen, A.C., Tan, S.-T. (Sian-Tsung), Thorand, B. (Barbara), Tönjes, A. (Anke), Tremblay, A. (Angelo), Tsafantakis, E. (Emmanouil), Most, P.J. (Peter) van der, Völker, U. (Uwe), Vohl, M.-C. (Marie-Claude), Vonk, J.M. (Judith), Waldenberger, M. (Melanie), Walker, R.W. (Ryan W.), Wennauer, R. (Roman), Widen, E., Willemsen, G.A.H.M. (Gonneke), Wilsgaard, T. (Tom), Wright, A.F. (Alan), Zillikens, M.C. (Carola), Van Dijk, S. (Suzanne), Schoor, N.M. (Natasja) van, Asselbergs, F.W. (Folkert), Bakker, P.I.W. (Paul) de, Beckmann, J.S. (Jacques), Beilby, J.P. (John), Bennett, D.A. (David A.), Bergman, R.N. (Richard), Bergmann, S.M. (Sven), Böger, C.A. (Carsten), Boehm, B.O. (Bernhard), Boerwinkle, E.A. (Eric), Boomsma, D.I. (Dorret), Bornstein, S.R. (Stefan), Bottinger, E.P. (Erwin), Bouchard, C. (Claude), Chambers, J.C. (John), Chanock, S.J. (Stephen), Chasman, D.I. (Daniel), Cucca, F. (Francesco), Cusi, D. (Daniele), Dedoussis, G.V. (George), Erdmann, J. (Jeanette), Hagen, K. (Knut), Evans, D., Faire, U. (Ulf) de, Farrall, M. (Martin), Ferrucci, L. (Luigi), Ford, I. (Ian), Franke, L. (Lude), Franks, P.W. (Paul), Froguel, P. (Philippe), Gansevoort, R.T. (Ron), Gieger, C. (Christian), Grönberg, H. (Henrik), Gudnason, V. (Vilmundur), Gyllensten, U. (Ulf), Hall, P. (Per), Hamsten, A. (Anders), Harst, P. (Pim) van der, Hayward, C. (Caroline), Heliovaara, M. (Markku), Hengstenberg, C. (Christian), Hicks, A.A. (Andrew), Hingorani, A. (Aroon), Hofman, A. (Albert), Hu, F. (Frank), Huikuri, H.V. (Heikki), Hveem, K. (Kristian), James, A. (Alan), Jordan, J.M. (Joanne M.), Jula, A. (Antti), Kähönen, M. (Mika), Kajantie, E. (Eero), Kathiresan, S. (Sekar), Kiemeney, L.A.L.M. (Bart), Kivimaki, M. (Mika), Knekt, P., Koistinen, H. (Heikki), Kooner, J.S. (Jaspal S.), Koskinen, S. (Seppo), Kuusisto, J. (Johanna), Maerz, W. (Winfried), Martin, N.G. (Nicholas), Laakso, M. (Markku), Lakka, T.A. (Timo), Lehtimäki, T. (Terho), Lettre, G. (Guillaume), Levinson, D.F. (Douglas), Kao, W.H.L. (Wen), Lokki, M.L., Mäntyselkä, P. (Pekka), Melbye, M. (Mads), Metspalu, A. (Andres), Mitchell, B.D. (Braxton), Moll, F.L. (Frans), Murray, J.C. (Jeffrey), Musk, A.W. (Arthur), Nieminen, M.S. (Markku), Njølstad, I. (Inger), Ohlsson, C. (Claes), Oldehinkel, A.J. (Albertine), Oostra, B.A. (Ben), Palmer, C. (Cameron), Pankow, J.S. (James), Pasterkamp, G. (Gerard), Pedersen, N.L. (Nancy), Pedersen, O. (Oluf), Penninx, B.W.J.H. (Brenda), Perola, M. (Markus), Peters, A. (Annette), Polasek, O. (Ozren), Pramstaller, P.P. (Peter Paul), Psaty, B.M. (Bruce M.), Qi, L. (Lu), Quertermous, T. (Thomas), Raitakari, O.T. (Olli T.), Rankinen, T. (Tuomo), Rauramaa, R. (Rainer), Ridker, P.M. (Paul), Rioux, J.D. (John), Rivadeneira Ramirez, F. (Fernando), Rotter, J.I. (Jerome I.), Rudan, I. (Igor), Ruijter, H.M. (Hester ) den, Saltevo, J. (Juha), Sattar, N. (Naveed), Schunkert, H. (Heribert), Schwarz, P.E.H. (Peter), Shuldiner, A.R. (Alan), Sinisalo, J. (Juha), Snieder, H. (Harold), Sørensen, T.I.A. (Thorkild), Spector, T.D. (Timothy), Staessen, J.A. (Jan A.), Stefania, B. (Bandinelli), Thorsteinsdottir, U. (Unnur), Stumvoll, M. (Michael), Tardif, J.-C. (Jean-Claude), Tremoli, E. (Elena), Tuomilehto, J. (Jaakko), Uitterlinden, A.G. (André), Uusitupa, M. (Matti), Verbeek, A.L.M., Vermeulen, S.H.H.M. (Sita), Viikari, J. (Jorma), Vitart, V. (Veronique), Völzke, H. (Henry), Vollenweider, P. (Peter), Waeber, G. (Gérard), Walker, M. (Mark), Wallaschofski, H. (Henri), Wareham, N.J. (Nick), Watkins, H. (Hugh), Zeggini, E. (Eleftheria), Chakravarti, A. (Aravinda), Clegg, D.J. (Deborah J.), Cupples, L.A. (Adrienne), Gordon-Larsen, P. (Penny), Jaquish, C.E. (Cashell), Rao, D.C. (Dabeeru C.), Abecasis, G.R. (Goncalo R.), Assimes, T.L. (Themistocles), Barroso, I.E. (Inês), Berndt, S.I. (Sonja), Boehnke, M. (Michael), Deloukas, P. (Panagiotis), Fox, C.S. (Caroline), Groop, L. (Leif), Hunter, D. (David), Ingelsson, E. (Erik), Kaplan, R.C. (Robert), McCarthy, M.I. 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(Pamela), Mangino, M. (Massimo), McKnight, B. (Barbara), Medina-Gomez, C. (Carolina), Monda, K.L. (Keri), Montasser, M.E. (May E.), Müller, G. (Gabriele), Müller-Nurasyid, M. (Martina), Nolte, I.M. (Ilja), Panoutsopoulou, K. (Kalliope), Pascoe, L. (Laura), Paternoster, L. (Lavinia), Rayner, N.W. (Nigel William), Renström, F. (Frida), Rizzi, F. (Federica), Rose, L.M. (Lynda), Ryan, K.A. (Kathy A.), Salo, P. (Perttu), Sanna, S. (Serena), Scharnagl, H. (Hubert), Shi, J. (Jianxin), Smith, A.V. (Albert Vernon), Southam, L. (Lorraine), Stancáková, A. (Alena), Steinthorsdottir, V. (Valgerdur), Strawbridge, R.J. (Rona), Sung, Y.J. (Yun Ju), Tachmazidou, I. (Ioanna), Tanaka, T. (Toshiko), Thorleifsson, G. (Gudmar), Trompet, S. (Stella), Pervjakova, N. (Natalia), Tyrer, J.P. (Jonathan), Vandenput, L. (Liesbeth), Van Der Laan, S.W. (Sander W.), Velde, N. (Nathalie) van der, Setten, J. (Jessica) van, Vliet-Ostaptchouk, J.V. (Jana) van, Verweij, N. (Niek), Vlachopoulou, E. (Efthymia), Waite, L. (Lindsay), Wang, S.R. (Sophie), Wang, Z. (Zhaoming), Wild, S.H. (Sarah), Willenborg, C. (Christina), Wilson, J.F. (James), Wong, A. (Andrew), Yang, J. (Jian), Yengo, L. (Loic), Yerges-Armstrong, L.M. (Laura), Yu, L. (Lei), Zhang, W. (Weihua), Zhao, J.H. (Jing Hua), Andersson, E.A. (Ehm Astrid), Bakker, S.J.L. (Stephan), Baldassarre, D. (Damiano), Banasik, K. (Karina), Barcella, M. (Matteo), Barlassina, C. (Cristina), Bellis, C. (Claire), Benaglio, P. (Paola), Blangero, J. (John), Blüher, M. (Matthias), Bonnet, F. (Fabrice), Bonnycastle, L.L. (Lori), Boyd, H.A. (Heather), Bruinenberg, M. (M.), Buchman, A.S. (Aron S.), Campbell, H. (Harry), Chen, Y.D. (Y.), Chines, P.S. (Peter), Claudi-Boehm, S. (Simone), Cole, J.W. (John W.), Collins, F.S. (Francis), Geus, E.J.C. (Eco) de, Groot, L.C.P.G.M. (Lisette) de, Dimitriou, M. (Maria), Duan, J. (Jubao), Enroth, S. (Stefan), Eury, E. (Elodie), Farmaki, A.-E. (Aliki-Eleni), Forouhi, N.G. (Nita), Friedrich, N. (Nele), Gejman, P.V. (Pablo), Gigante, B. (Bruna), Glorioso, N. (Nicola), Go, A.T.J.I. (Attie), Gottesman, R.F. (Rebecca), Gräßler, J. (Jürgen), Grallert, H. (Harald), Grarup, N. (Niels), Gu, Y.-M. (Yu-Mei), Broer, L. (Linda), Ham, A.C. (Annelies), Hansen, T. (T.), Harris, T.B. (Tamara), Hartman, C.A. (Catharina A.), Hassinen, M. (Maija), Hastie, N. (Nick), Hattersley, A.T. (Andrew), Heath, A.C. (Andrew), Henders, A.K. (Anjali), Hernandez, D.G. (Dena), Hillege, H.L. (Hans), Holmen, O.L. (Oddgeir), Hovingh, G.K. (Kees), Hui, J. (Jennie), Husemoen, L.L. (Lise L.), Hutri-Kähönen, N. (Nina), Hysi, P.G. (Pirro), Illig, T. (Thomas), Jager, P.L. (Philip) de, Jalilzadeh, S. (Shapour), Jorgensen, T. (Torben), Jukema, J.W. (Jan Wouter), Juonala, M. (Markus), Kanoni, S. (Stavroula), Karaleftheri, M. (Maria), Khaw, K.T., Kinnunen, L. (Leena), Kittner, T. (Thomas), Koenig, W. (Wolfgang), Kolcic, I. (Ivana), Kovacs, P. (Peter), Krarup, N.T. (Nikolaj T.), Kratzer, W. (Wolfgang), Krüger, J. (Janine), Kuh, D. (Diana), Kumari, M. (Meena), Kyriakou, T. (Theodosios), Langenberg, C. (Claudia), Lannfelt, L. (Lars), Lanzani, C. (Chiara), Lotay, V. (Vaneet), Launer, L.J. (Lenore), Leander, K. (Karin), Lindström, J. (Jaana), Linneberg, A. (Allan), Liu, Y.-P. (Yan-Ping), Lobbens, S. (Stéphane), Luben, R.N. (Robert), Lyssenko, V. (Valeriya), Männistö, S. (Satu), Magnusson, P.K. (Patrik), McArdle, W.L. (Wendy), Menni, C. (Cristina), Merger, S. (Sigrun), Milani, L. (Lili), Montgomery, G.W. (Grant W.), Morris, A.P. (Andrew), Narisu, N. (Narisu), Nelis, M. (Mari), Ong, K.K. (Ken), Palotie, A. (Aarno), Perusse, L. (Louis), Pichler, I. (Irene), Pilia, M.G. (Maria Grazia), Pouta, A. (Anneli), Rheinberger, M. (Myriam), Ribel-Madsen, R. (Rasmus), Richards, M. (Marcus), Rice, K.M. (Kenneth), Rice, T.K. (Treva K.), Rivolta, C. (Carlo), Salomaa, V. (Veikko), Sanders, A.R. (Alan), Sarzynski, M.A. (Mark A.), Scholtens, S. (Salome), Scott, R.A. (Robert), Scott, W.R. (William R.), Sebert, S. (Sylvain), Sengupta, S. (Sebanti), Sennblad, B. (Bengt), Seufferlein, T. (Thomas), Silveira, A. (Angela), Slagboom, P.E. (Eline), Smit, J.H. (Jan), Sparsø, T. (Thomas), Stirrups, K. (Kathy), Stolk, R.P. (Ronald), Stringham, H.M. (Heather), Swertz, M.A. (Morris A.), Swift, A.J. (Amy), Syvänen, A.C., Tan, S.-T. (Sian-Tsung), Thorand, B. (Barbara), Tönjes, A. (Anke), Tremblay, A. (Angelo), Tsafantakis, E. (Emmanouil), Most, P.J. (Peter) van der, Völker, U. (Uwe), Vohl, M.-C. (Marie-Claude), Vonk, J.M. (Judith), Waldenberger, M. (Melanie), Walker, R.W. (Ryan W.), Wennauer, R. (Roman), Widen, E., Willemsen, G.A.H.M. (Gonneke), Wilsgaard, T. (Tom), Wright, A.F. (Alan), Zillikens, M.C. (Carola), Van Dijk, S. (Suzanne), Schoor, N.M. (Natasja) van, Asselbergs, F.W. (Folkert), Bakker, P.I.W. (Paul) de, Beckmann, J.S. (Jacques), Beilby, J.P. (John), Bennett, D.A. (David A.), Bergman, R.N. (Richard), Bergmann, S.M. (Sven), Böger, C.A. (Carsten), Boehm, B.O. (Bernhard), Boerwinkle, E.A. (Eric), Boomsma, D.I. (Dorret), Bornstein, S.R. (Stefan), Bottinger, E.P. (Erwin), Bouchard, C. (Claude), Chambers, J.C. (John), Chanock, S.J. (Stephen), Chasman, D.I. (Daniel), Cucca, F. (Francesco), Cusi, D. (Daniele), Dedoussis, G.V. (George), Erdmann, J. (Jeanette), Hagen, K. (Knut), Evans, D., Faire, U. (Ulf) de, Farrall, M. (Martin), Ferrucci, L. (Luigi), Ford, I. (Ian), Franke, L. (Lude), Franks, P.W. (Paul), Froguel, P. (Philippe), Gansevoort, R.T. (Ron), Gieger, C. (Christian), Grönberg, H. (Henrik), Gudnason, V. (Vilmundur), Gyllensten, U. (Ulf), Hall, P. (Per), Hamsten, A. (Anders), Harst, P. (Pim) van der, Hayward, C. (Caroline), Heliovaara, M. (Markku), Hengstenberg, C. (Christian), Hicks, A.A. (Andrew), Hingorani, A. (Aroon), Hofman, A. (Albert), Hu, F. (Frank), Huikuri, H.V. (Heikki), Hveem, K. (Kristian), James, A. (Alan), Jordan, J.M. (Joanne M.), Jula, A. (Antti), Kähönen, M. (Mika), Kajantie, E. (Eero), Kathiresan, S. (Sekar), Kiemeney, L.A.L.M. (Bart), Kivimaki, M. (Mika), Knekt, P., Koistinen, H. (Heikki), Kooner, J.S. (Jaspal S.), Koskinen, S. (Seppo), Kuusisto, J. (Johanna), Maerz, W. (Winfried), Martin, N.G. (Nicholas), Laakso, M. (Markku), Lakka, T.A. (Timo), Lehtimäki, T. (Terho), Lettre, G. (Guillaume), Levinson, D.F. (Douglas), Kao, W.H.L. (Wen), Lokki, M.L., Mäntyselkä, P. (Pekka), Melbye, M. (Mads), Metspalu, A. (Andres), Mitchell, B.D. (Braxton), Moll, F.L. (Frans), Murray, J.C. (Jeffrey), Musk, A.W. (Arthur), Nieminen, M.S. (Markku), Njølstad, I. (Inger), Ohlsson, C. (Claes), Oldehinkel, A.J. (Albertine), Oostra, B.A. (Ben), Palmer, C. (Cameron), Pankow, J.S. (James), Pasterkamp, G. (Gerard), Pedersen, N.L. (Nancy), Pedersen, O. (Oluf), Penninx, B.W.J.H. (Brenda), Perola, M. (Markus), Peters, A. (Annette), Polasek, O. (Ozren), Pramstaller, P.P. (Peter Paul), Psaty, B.M. (Bruce M.), Qi, L. (Lu), Quertermous, T. (Thomas), Raitakari, O.T. (Olli T.), Rankinen, T. (Tuomo), Rauramaa, R. (Rainer), Ridker, P.M. (Paul), Rioux, J.D. (John), Rivadeneira Ramirez, F. (Fernando), Rotter, J.I. (Jerome I.), Rudan, I. (Igor), Ruijter, H.M. (Hester ) den, Saltevo, J. (Juha), Sattar, N. (Naveed), Schunkert, H. (Heribert), Schwarz, P.E.H. (Peter), Shuldiner, A.R. (Alan), Sinisalo, J. (Juha), Snieder, H. (Harold), Sørensen, T.I.A. (Thorkild), Spector, T.D. (Timothy), Staessen, J.A. (Jan A.), Stefania, B. (Bandinelli), Thorsteinsdottir, U. (Unnur), Stumvoll, M. (Michael), Tardif, J.-C. (Jean-Claude), Tremoli, E. (Elena), Tuomilehto, J. (Jaakko), Uitterlinden, A.G. (André), Uusitupa, M. (Matti), Verbeek, A.L.M., Vermeulen, S.H.H.M. (Sita), Viikari, J. (Jorma), Vitart, V. (Veronique), Völzke, H. (Henry), Vollenweider, P. (Peter), Waeber, G. (Gérard), Walker, M. (Mark), Wallaschofski, H. (Henri), Wareham, N.J. (Nick), Watkins, H. (Hugh), Zeggini, E. (Eleftheria), Chakravarti, A. (Aravinda), Clegg, D.J. (Deborah J.), Cupples, L.A. (Adrienne), Gordon-Larsen, P. (Penny), Jaquish, C.E. (Cashell), Rao, D.C. (Dabeeru C.), Abecasis, G.R. (Goncalo R.), Assimes, T.L. (Themistocles), Barroso, I.E. (Inês), Berndt, S.I. (Sonja), Boehnke, M. (Michael), Deloukas, P. (Panagiotis), Fox, C.S. (Caroline), Groop, L. (Leif), Hunter, D. (David), Ingelsson, E. (Erik), Kaplan, R.C. (Robert), McCarthy, M.I. (Mark I.), Mohlke, K.L. (Karen), O´Connell, J.R., Schlessinger, D. (David), Strachan, D.P. (David), Zwart, J-A. (John-Anker), Duijn, C.M. (Cornelia) van, Hirschhorn, J.N. (Joel), Lindgren, C.M. (Cecilia M.), Heid, I.M. (Iris), North, K.E. (Kari), Borecki, I.B. (Ingrid), Kutalik, Z. (Zoltán), and Loos, R.J.F. (Ruth)
Abstract: Genome-wide association studies (GWAS) have identified more than 100 genetic variants contributing to BMI, a measure of body size, or waist-to-hip ratio (adjusted for BMI, WHRadjBMI), a measure of body shape. Body size and shape change as people grow older and these changes differ substantially between men and women. To systematically screen for age- and/or sex-specific effects of genetic variants on BMI and WHRadjBMI, we performed meta-analyses of 114 studies (up to 320,485 individuals of European descent) with genome-wide chip and/or Metabochip data by the Genetic Investigation of Anthropometric Traits (GIANT) Consortium. Each study tested the association of up to ~2.8M SNPs with BMI and WHRadjBMI in four strata (men ≤50y, men >50y, women ≤50y, women >50y) and summary statistics were combined in stratum-specific meta-analyses. We then screened for variants that showed age-specific effects (G x AGE), sex-specific effects (G x SEX) or age-specific effects that differed between men and women (G x AGE x SEX). For BMI, we identified 15 loci (11 previously established for main effects, four novel) that showed significant (FDR<5%) age-specific effects, of which 11 had larger effects in younger (<50y) than in older adults (≥50y). No sex-dependent effects were identified for B
Published: 2015
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25. The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

Author: Winkler, TW, Justice, AE, Graff, M, Barata, L, Feitosa, MF, Chu, S, Czajkowski, J, Esko, T, Fall, T, Kilpelainen, TO, Lu, YC, Magi, R, Mihailov, E, Pers, TH, Rueger, S, Teumer, A, Ehret, GB, Ferreira, T, Heard-Costa, NL, Karjalainen, J, Lagou, V, Mahajan, A, Neinast, MD, Prokopenko, I, Simino, J, Teslovich, TM, Jansen, R, Westra, HJ, White, CC, Absher, D, Ahluwalia, TS, Ahmad, Shahzad, Albrecht, E, Alves, AC, Bragg-Gresham, JL, de Craen, AJM, Bis, JC, Bonnefond, A, Boucher, G, Cadby, G, Cheng, YC, Chiang, CWK, Delgado, G, Demirkan, Ayse, Dueker, N, Eklund, N, Eiriksdottir, G, Eriksson, J, Feenstra, B, Fischer, K (Kirsten), Frau, F, Galesloot, TE, Geller, F, Goel, A, Gorski, M, Grammer, TB, Gustafsson, S, Haitjema, S, Hottenga, JJ (Jouke Jan), Huffman, JE, Jackson, AU, Jacobs, KB, Johansson, A, Kaakinen, M, Kleber, ME, Lahti, J, Leach, IM, Lehne, B, Liu, YF, Lo, KS, Lorentzon, M, Luan, J, Madden, PAF, Mangino, M, McKnight, B, Medina Gomez, Maria, Monda, KL, Montasser, ME, Muller, G, Muller-Nurasyid, M, Nolte, IM (Ilja), Panoutsopoulou, K, Pascoe, L, Paternoster, L, Rayner, NW, Renstrom, F, Rizzi, F, Rose, LM, Ryan, KA, Salo, P, Sanna, S, Scharnagl, H, Shi, JX, Smith, AV, Southam, L, Stancakova, A, Steinthorsdottir, V, Strawbridge, RJ, Sung, YJ, Tachmazidou, I, Tanaka, T, Thorleifsson, G, Trompet, S, Pervjakova, N, Tyrer, JP, Vandenput, L, Laan, Sander, van der Velde, Nathalie, van Setten, J, van Vliet-Ostaptchouk, JV, Verweij, N (Niek), Vlachopoulou, E, Waite, LL, Wang, SR, Wang, ZM, Wild, SH, Willenborg, C, Wilson, JF, Wong, A, Yang, Jiaqi, Yengo, L, Yerges-Armstrong, LM, Yu, L, Zhang, WH, Zhao, JH, Andersson, EA, Bakker, SJL, Baldassarre, D, Banasik, K, Barcella, M, Barlassina, C, Bellis, C, Benaglio, P, Blangero, J, Bluher, M, Bonnet, F, Bonnycastle, LL, Boyd, HA, Bruinenberg, M, Buchman, AS, Campbell, H, Chen, YDI, Chines, PS, Claudi-Boehm, S, Cole, J, Collins, FS, de Geus, EJC, de Groot, LCPGM (Lisette), Dimitriou, M, Duan, J, Enroth, S, Eury, E, Farmaki, AE, Forouhi, NG, Friedrich, N, Gejman, PV, Gigante, B, Glorioso, N, Go, AS, Gottesman, O, Grassler, J, Grallert, H, Grarup, N, Gu, YM, Broer, Linda, Ham, Annelies, Hansen, T, Harris, TB, Hartman, CA, Hassinen, M, Hastie, N, Hattersley, AT, Heath, AC, Henders, AK, Hernandez, D, Hillege, H, Holmen, O, Hovingh, KG, Hui, J, Husemoen, LL, Hutri-Kahonen, N, Hysi, PG, Illig, T, De Jager, PL, Jalilzadeh, S, Jorgensen, T, Jukema, JW, Juonala, M, Kanoni, S, Karaleftheri, M, Khaw, KT, Kinnunen, L, Kittner, SJ, Koenig, W, Kolcic, I, Kovacs, P, Krarup, NT, Kratzer, W, Kruger, J, Kuh, D, Kumari, M, Kyriakou, T, Langenberg, C, Lannfelt, L, Lanzani, C, Lotay, V, Launer, LJ (Lenore), Leander, K, Lindstrom, J, Linneberg, A, Liu, YP, Lobbens, S, Luben, R, Lyssenko, V, Mannisto, S, Magnusson, PK, McArdle, WL, Menni, C, Merger, S, Milani, L, Montgomery, GW, Morris, AP, Narisu, N, Nelis, M, Ong, KK, Palotie, A, Perusse, L, Pichler, I, Pilia, MG, Pouta, A, Rheinberger, M, Ribel-Madsen, R, Richards, M, Rice, KM, Rice, TK, Rivolta, C, Salomaa, V, Sanders, AR, Sarzynski, MA, Scholtens, s, Scott, RA, Scott, WR, Sebert, S, Sengupta, S, Sennblad, B, Seufferlein, T, Silveira, A, Slagboom, PE (Eline), Smit, JH, Sparso, TH, Stirrups, K, Stolk, RP (Ronald), Stringham, HM, Swertz, MA, Swift, AJ, Syvanen, AC, Tan, ST, Thorand, B, Tonjes, A, Tremblay, A, Tsafantakis, E, van der Most, PJ, Volker, U, Vohl, MC, Vonk, JM, Waldenberger, M, Walker, RW, Wennauer, R, Widen, E, Willemsen, G, Wilsgaard, T, Wright, AF, Zillikens, M.C., Boon - van Dijk, Suzanne, Schoor, NM, Asselbergs, FW, de Bakker, PIW, Beckmann, JS, Beilby, J, Bennett, DA, Bergman, RN, Bergmann, S, Boger, CA, Boehm, BO, Boerwinkle, E, Boomsma, DI, Bornstein, SR, Bottinger, EP, Bouchard, C, Chambers, JC, Chanock, SJ, Chasman, DI, Cucca, F, Cusi, D, Dedoussis, G, Erdmann, J, Eriksson, JG, Evans, DA, de Faire, U, Farrall, M, Ferrucci, L, Ford, I, Franke, L, Franks, PW, Froguel, P, Gansevoort, RT, Gieger, C, Gronberg, H, Gudnason, V, Gyllensten, U, Hall, P, Hamsten, A, van der Harst, P, Hayward, C, Heliovaara, M, Hengstenberg, C, Hicks, AA, Hingorani, A, Hofman, Bert, Hu, F, Huikuri, HV, Hveem, K, James, AL, Jordan, JM, Jula, A, Kahonen, M, Kajantie, E, Kathiresan, S, Kiemeney, LALM, Kivimaki, M, Knekt, PB, Koistinen, HA, Kooner, JS, Koskinen, S, Kuusisto, J, Maerz, W, Martin, NG, Laakso, M, Lakka, TA, Lehtimaki, T, Lettre, G, Levinson, DF, Lind, L, Lokki, ML, Mantyselka, P, Melbye, M, Metspalu, A, Mitchell, BD, Moll, FL, Murray, JC, Musk, AW, Nieminen, MS, Njolstad, I, Ohlsson, C, Oldehinkel, AJ (A.), Oostra, Ben, Palmer, LJ, Pankow, JS, Pasterkamp, G, Pedersen, NL, Pedersen, O, Penninx, BW, Perola, M, Peters, A, Polasek, O, Pramstaller, PP, Psaty, BM, Qi, L, Quertermous, T, Raitakari, OT, Rankinen, T, Rauramaa, R, Ridker, PM, Rioux, JD, Rivadeneira, Fernando, Rotter, JI, Rudan, I, den Ruijter, HM, Saltevo, J, Sattar, N, Schunkert, H, Schwarz, PEH, Shuldiner, AR, Sinisalo, J, Snieder, H, Sorensen, TIA, Spector, TD, Staessen, JA, Stefania, B, Thorsteinsdottir, U, Stumvoll, M, Tardif, JC, Tremoli, E, Tuomilehto, J, Uitterlinden, André, Uusitupa, M, Verbeek, ALM, Vermeulen, SH, Viikari, JS, Vitart, V, Volzke, H, Vollenweider, P, Waeber, G, Walker, M, Wallaschofski, H, Wareham, NJ, Watkins, H, Zeggini, E, Chakravarti, A, Clegg, DJ, Cupples, LA, Gordon-Larsen, P, Jaquish, CE, Rao, DC, Abecasis, GR, Assimes, TL, Barroso, I, Berndt, SI, Boehnke, M, Deloukas, P, Fox, CS, Groop, LC, Hunter, DJ, Ingelsson, E, Kaplan, RC, McCarthy, MI, Mohlke, KL, O'Connell, JR, Schlessinger, D, Strachan, DP, Stefansson, K, Duijn, Cornelia, Hirschhorn, JN, Lindgren, CM, Heid, IM, North, KE, Borecki, IB, Kutalik, Z, Loos, RJF, Winkler, TW, Justice, AE, Graff, M, Barata, L, Feitosa, MF, Chu, S, Czajkowski, J, Esko, T, Fall, T, Kilpelainen, TO, Lu, YC, Magi, R, Mihailov, E, Pers, TH, Rueger, S, Teumer, A, Ehret, GB, Ferreira, T, Heard-Costa, NL, Karjalainen, J, Lagou, V, Mahajan, A, Neinast, MD, Prokopenko, I, Simino, J, Teslovich, TM, Jansen, R, Westra, HJ, White, CC, Absher, D, Ahluwalia, TS, Ahmad, Shahzad, Albrecht, E, Alves, AC, Bragg-Gresham, JL, de Craen, AJM, Bis, JC, Bonnefond, A, Boucher, G, Cadby, G, Cheng, YC, Chiang, CWK, Delgado, G, Demirkan, Ayse, Dueker, N, Eklund, N, Eiriksdottir, G, Eriksson, J, Feenstra, B, Fischer, K (Kirsten), Frau, F, Galesloot, TE, Geller, F, Goel, A, Gorski, M, Grammer, TB, Gustafsson, S, Haitjema, S, Hottenga, JJ (Jouke Jan), Huffman, JE, Jackson, AU, Jacobs, KB, Johansson, A, Kaakinen, M, Kleber, ME, Lahti, J, Leach, IM, Lehne, B, Liu, YF, Lo, KS, Lorentzon, M, Luan, J, Madden, PAF, Mangino, M, McKnight, B, Medina Gomez, Maria, Monda, KL, Montasser, ME, Muller, G, Muller-Nurasyid, M, Nolte, IM (Ilja), Panoutsopoulou, K, Pascoe, L, Paternoster, L, Rayner, NW, Renstrom, F, Rizzi, F, Rose, LM, Ryan, KA, Salo, P, Sanna, S, Scharnagl, H, Shi, JX, Smith, AV, Southam, L, Stancakova, A, Steinthorsdottir, V, Strawbridge, RJ, Sung, YJ, Tachmazidou, I, Tanaka, T, Thorleifsson, G, Trompet, S, Pervjakova, N, Tyrer, JP, Vandenput, L, Laan, Sander, van der Velde, Nathalie, van Setten, J, van Vliet-Ostaptchouk, JV, Verweij, N (Niek), Vlachopoulou, E, Waite, LL, Wang, SR, Wang, ZM, Wild, SH, Willenborg, C, Wilson, JF, Wong, A, Yang, Jiaqi, Yengo, L, Yerges-Armstrong, LM, Yu, L, Zhang, WH, Zhao, JH, Andersson, EA, Bakker, SJL, Baldassarre, D, Banasik, K, Barcella, M, Barlassina, C, Bellis, C, Benaglio, P, Blangero, J, Bluher, M, Bonnet, F, Bonnycastle, LL, Boyd, HA, Bruinenberg, M, Buchman, AS, Campbell, H, Chen, YDI, Chines, PS, Claudi-Boehm, S, Cole, J, Collins, FS, de Geus, EJC, de Groot, LCPGM (Lisette), Dimitriou, M, Duan, J, Enroth, S, Eury, E, Farmaki, AE, Forouhi, NG, Friedrich, N, Gejman, PV, Gigante, B, Glorioso, N, Go, AS, Gottesman, O, Grassler, J, Grallert, H, Grarup, N, Gu, YM, Broer, Linda, Ham, Annelies, Hansen, T, Harris, TB, Hartman, CA, Hassinen, M, Hastie, N, Hattersley, AT, Heath, AC, Henders, AK, Hernandez, D, Hillege, H, Holmen, O, Hovingh, KG, Hui, J, Husemoen, LL, Hutri-Kahonen, N, Hysi, PG, Illig, T, De Jager, PL, Jalilzadeh, S, Jorgensen, T, Jukema, JW, Juonala, M, Kanoni, S, Karaleftheri, M, Khaw, KT, Kinnunen, L, Kittner, SJ, Koenig, W, Kolcic, I, Kovacs, P, Krarup, NT, Kratzer, W, Kruger, J, Kuh, D, Kumari, M, Kyriakou, T, Langenberg, C, Lannfelt, L, Lanzani, C, Lotay, V, Launer, LJ (Lenore), Leander, K, Lindstrom, J, Linneberg, A, Liu, YP, Lobbens, S, Luben, R, Lyssenko, V, Mannisto, S, Magnusson, PK, McArdle, WL, Menni, C, Merger, S, Milani, L, Montgomery, GW, Morris, AP, Narisu, N, Nelis, M, Ong, KK, Palotie, A, Perusse, L, Pichler, I, Pilia, MG, Pouta, A, Rheinberger, M, Ribel-Madsen, R, Richards, M, Rice, KM, Rice, TK, Rivolta, C, Salomaa, V, Sanders, AR, Sarzynski, MA, Scholtens, s, Scott, RA, Scott, WR, Sebert, S, Sengupta, S, Sennblad, B, Seufferlein, T, Silveira, A, Slagboom, PE (Eline), Smit, JH, Sparso, TH, Stirrups, K, Stolk, RP (Ronald), Stringham, HM, Swertz, MA, Swift, AJ, Syvanen, AC, Tan, ST, Thorand, B, Tonjes, A, Tremblay, A, Tsafantakis, E, van der Most, PJ, Volker, U, Vohl, MC, Vonk, JM, Waldenberger, M, Walker, RW, Wennauer, R, Widen, E, Willemsen, G, Wilsgaard, T, Wright, AF, Zillikens, M.C., Boon - van Dijk, Suzanne, Schoor, NM, Asselbergs, FW, de Bakker, PIW, Beckmann, JS, Beilby, J, Bennett, DA, Bergman, RN, Bergmann, S, Boger, CA, Boehm, BO, Boerwinkle, E, Boomsma, DI, Bornstein, SR, Bottinger, EP, Bouchard, C, Chambers, JC, Chanock, SJ, Chasman, DI, Cucca, F, Cusi, D, Dedoussis, G, Erdmann, J, Eriksson, JG, Evans, DA, de Faire, U, Farrall, M, Ferrucci, L, Ford, I, Franke, L, Franks, PW, Froguel, P, Gansevoort, RT, Gieger, C, Gronberg, H, Gudnason, V, Gyllensten, U, Hall, P, Hamsten, A, van der Harst, P, Hayward, C, Heliovaara, M, Hengstenberg, C, Hicks, AA, Hingorani, A, Hofman, Bert, Hu, F, Huikuri, HV, Hveem, K, James, AL, Jordan, JM, Jula, A, Kahonen, M, Kajantie, E, Kathiresan, S, Kiemeney, LALM, Kivimaki, M, Knekt, PB, Koistinen, HA, Kooner, JS, Koskinen, S, Kuusisto, J, Maerz, W, Martin, NG, Laakso, M, Lakka, TA, Lehtimaki, T, Lettre, G, Levinson, DF, Lind, L, Lokki, ML, Mantyselka, P, Melbye, M, Metspalu, A, Mitchell, BD, Moll, FL, Murray, JC, Musk, AW, Nieminen, MS, Njolstad, I, Ohlsson, C, Oldehinkel, AJ (A.), Oostra, Ben, Palmer, LJ, Pankow, JS, Pasterkamp, G, Pedersen, NL, Pedersen, O, Penninx, BW, Perola, M, Peters, A, Polasek, O, Pramstaller, PP, Psaty, BM, Qi, L, Quertermous, T, Raitakari, OT, Rankinen, T, Rauramaa, R, Ridker, PM, Rioux, JD, Rivadeneira, Fernando, Rotter, JI, Rudan, I, den Ruijter, HM, Saltevo, J, Sattar, N, Schunkert, H, Schwarz, PEH, Shuldiner, AR, Sinisalo, J, Snieder, H, Sorensen, TIA, Spector, TD, Staessen, JA, Stefania, B, Thorsteinsdottir, U, Stumvoll, M, Tardif, JC, Tremoli, E, Tuomilehto, J, Uitterlinden, André, Uusitupa, M, Verbeek, ALM, Vermeulen, SH, Viikari, JS, Vitart, V, Volzke, H, Vollenweider, P, Waeber, G, Walker, M, Wallaschofski, H, Wareham, NJ, Watkins, H, Zeggini, E, Chakravarti, A, Clegg, DJ, Cupples, LA, Gordon-Larsen, P, Jaquish, CE, Rao, DC, Abecasis, GR, Assimes, TL, Barroso, I, Berndt, SI, Boehnke, M, Deloukas, P, Fox, CS, Groop, LC, Hunter, DJ, Ingelsson, E, Kaplan, RC, McCarthy, MI, Mohlke, KL, O'Connell, JR, Schlessinger, D, Strachan, DP, Stefansson, K, Duijn, Cornelia, Hirschhorn, JN, Lindgren, CM, Heid, IM, North, KE, Borecki, IB, Kutalik, Z, and Loos, RJF
Abstract: Genome-wide association studies (GWAS) have identified more than 100 genetic variants contributing to BMI, a measure of body size, or waist-to-hip ratio (adjusted for BMI, WHRadjBMI), a measure of body shape. Body size and shape change as people grow older and these changes differ substantially between men and women. To systematically screen for age-and/or sex-specific effects of genetic variants on BMI and WHRadjBMI, we performed meta-analyses of 114 studies (up to 320,485 individuals of European descent) with genome-wide chip and/or Metabochip data by the Genetic Investigation of Anthropometric Traits (GIANT) Consortium. Each study tested the association of up to similar to 2.8M SNPs with BMI and WHRadjBMI in four strata (men <= 50y, men > 50y, women <= 50y, women > 50y) and summary statistics were combined in stratum-specific meta-analyses. We then screened for variants that showed age-specific effects (G x AGE), sex-specific effects (G x SEX) or age-specific effects that differed between men and women (G x AGE x SEX). For BMI, we identified 15 loci (11 previously established for main effects, four novel) that showed significant (FDR< 5%) age-specific effects, of which 11 had larger effects in younger (< 50y) than in older adults (>= 50y). No sex-dependent effects were identified for BMI. For WHRadjBMI, we identified 44 loci (27 previously established for main effects, 17 novel) with sex-specific effects, of which 28 showed larger effects in women than in men, five showed larger effects in men than in women, and 11 showed opposite effects between sexes. No age-dependent effects were identified for WHRadjBMI. This is the first genome-wide interaction meta-analysis to report convincing evidence of age-dependent genetic effects on BMI. In addition, we confirm the sex-specificity of genetic effects on WHRadjBMI. These results may providefurther insights into the biology that underlies weight change with age or the sexually dimorphism of body shap
Published: 2015

26. Clinical and genetic evaluation of restless legs syndrome in a population mikro-isolate in South Tyrol

Author: Pichler I, Maniak S, Vogl FD, Volpato CB, De Grandi A, Pinggera GK, Klein C, Pramstaller PP, CASARI , GIORGIO NEVIO, Pichler, I, Maniak, S, Vogl, Fd, Volpato, Cb, De Grandi, A, Casari, GIORGIO NEVIO, Pinggera, Gk, Klein, C, and Pramstaller, Pp
Published: 2004

27. Familial clustering of restless legs syndrome in a population isolate in South Tyrol (Northern Italy)

Author: Pichler I, Maniak S, Vogl FD, Christine K, Pramstaller PP, CASARI , GIORGIO NEVIO, Pichler, I, Maniak, S, Vogl, Fd, Casari, GIORGIO NEVIO, Christine, K, and Pramstaller, Pp
Published: 2004

28. Der Einfluss hellroter und dunkelroter Strahlung auf die geotropische Reaktion der Keimlinge vonSinapis alba L

Author: Mohr, H. and Pichler, I.
Published: 1960
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29. Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations

Author: Demirkan, A., van Duijn, C.M., Ugocsai, P., Isaacs, A., Pramstaller, P.P., Liebisch, G., Wilson, J.F., Johansson, A., Rudan, I., Aulchenko, Y.S., Kirichenko, A.V., Janssens, A.C.J.W., Jansen, R.C., Gnewuch, C., Domingues, F.S., Pattaro, C., Wild, S.H., Jonasson, I., Polasek, O., Zorkoltseva, I.V., Hofman, A., Karssen, L.C., Struchalin, M., Floyd, J., Igl, W., Biloglav, Z., Broer, L., Pfeufer, A., Pichler, I., Campbell, S., Zaboli, G., Kolcic, I., Rivadeneira, F., Huffman, J., Hastie, N.D., Uitterlinden, A., Franke, L., Franklin, C.S., Vitart, V., Nelson, C.P., Preuss, M., Bis, J.C., O'Donnell, C.J., Franceschini, N., Witteman, J.C.M., Axenovich, T., Oostra, B.A., Meitinger, T., Hicks, A.A., Hayward, C., Wright, A.F., Gyllensten, U., Campbell, H., Schmitz, G., and Consortium, EUROSPAN
Subjects: lipids (amino acids, peptides, and proteins)
Abstract: Phospho- and sphingolipids are crucial cellular and intracellular compounds. These lipids are required for active transport, a number of enzymatic processes, membrane formation, and cell signalling. Disruption of their metabolism leads to several diseases, with diverse neurological, psychiatric, and metabolic consequences. A large number of phospholipid and sphingolipid species can be detected and measured in human plasma. We conducted a meta-analysis of five European family-based genome-wide association studies (N = 4034) on plasma levels of 24 sphingomyelins (SPM), 9 ceramides (CER), 57 phosphatidylcholines (PC), 20 lysophosphatidylcholines (LPC), 27 phosphatidylethanolamines (PE), and 16 PE-based plasmalogens (PLPE), as well as their proportions in each major class. This effort yielded 25 genome-wide significant loci for phospholipids (smallest P-value = 9.88x10(-204)) and 10 loci for sphingolipids (smallest P-value = 3.10x10(-57)). After a correction for multiple comparisons (P-value
Published: 2012

30. A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

Author: Sharma, M. Ioannidis, J.P.A. Aasly, J.O. Annesi, G. Brice, A. Bertram, L. Bozi, M. Barcikowska, M. Crosiers, D. Clarke, C.E. Facheris, M.F. Farrer, M. Garraux, G. Gispert, S. Auburger, G. Vilariño-Güell, C. Hadjigeorgiou, G.M. Hicks, A.A. Hattori, N. Jeon, B.S. Jamrozik, Z. Krygowska-Wajs, A. Lesage, S. Lill, C.M. Lin, J.-J. Lynch, T. Lichtner, P. Lang, A.E. Libioulle, C. Murata, M. Mok, V. Jasinska-Myga, B. Mellick, G.D. Morrison, K.E. Meitnger, T. Zimprich, A. Opala, G. Pramstaller, P.P. Pichler, I. Park, S.S. Quattrone, A. Rogaeva, E. Ross, O.A. Stefanis, L. Stockton, J.D. Satake, W. Silburn, P.A. Strom, T.M. Theuns, J. Tan, E.K. Toda, T. Tomiyama, H. Uitti, R.J. Van Broeckhoven, C. Wirdefeldt, K. Wszolek, Z. Xiromerisiou, G. Yomono, H.S. Yueh, K.-C. Zhao, Y. Gasser, T. Maraganore, D. Krüger, R.
Abstract: Background Two recent studies identified a mutation (p.Asp620Asn) in the vacuolar protein sorting 35 gene as a cause for an autosomal dominant form of Parkinson disease. Although additional missense variants were described, their pathogenic role yet remains inconclusive. Methods and results We performed the largest multicenter study to ascertain the frequency and pathogenicity of the reported vacuolar protein sorting 35 gene variants in more than 15,000 individuals worldwide. p.Asp620Asn was detected in 5 familial and 2 sporadic PD cases and not in healthy controls, p.Leu774Met in 6 cases and 1 control, p.Gly51Ser in 3 cases and 2 controls. Overall analyses did not reveal any significant increased risk for p.Leu774Met and p.Gly51Ser in our cohort. Conclusions Our study apart from identifying the p. Asp620Asn variant in familial cases also identified it in idiopathic Parkinson disease cases, and thus provides genetic evidence for a role of p.Asp620Asn in Parkinson disease in different populations worldwide.
Published: 2012

31. Large-scale replication and heterogeneity in Parkinson disease genetic loci

Author: Sharma, M. Ioannidis, J.P.A. Aasly, J.O. Annesi, G. Brice, A. Van Broeckhoven, C. Bertram, L. Bozi, M. Crosiers, D. Clarke, C. Facheris, M. Farrer, M. Garraux, G. Gispert, S. Auburger, G. Vilariño-Güell, C. Hadjigeorgiou, G.M. Hicks, A.A. Hattori, N. Jeon, B. Lesage, S. Lill, C.M. Lin, J.-J. Lynch, T. Lichtner, P. Lang, A.E. Mok, V. Jasinska-Myga, B. Mellick, G.D. Morrison, K.E. Opala, G. Pramstaller, P.P. Pichler, I. Park, S.S. Quattrone, A. Rogaeva, E. Ross, O.A. Stefanis, L. Stockton, J.D. Satake, W. Silburn, P.A. Theuns, J. Tan, E.-K. Toda, T. Tomiyama, H. Uitti, R.J. Wirdefeldt, K. Wszolek, Z. Xiromerisiou, G. Yueh, K.-C. Zhao, Y. Gasser, T. Maraganore, D. Krüger, R.
Abstract: Objective: Eleven genetic loci have reached genome-wide significance in a recent meta-analysis of genome-wide association studies in Parkinson disease (PD) based on populations of Caucasian descent. The extent to which these genetic effects are consistent across different populations is unknown. Methods: Investigators from the Genetic Epidemiology of Parkinson's Disease Consortium were invited to participate in the study. A total of 11 SNPs were genotyped in 8,750 cases and 8,955 controls. Fixed as well as random effects models were used to provide the summary risk estimates for these variants. We evaluated between-study heterogeneity and heterogeneity between populations of different ancestry. Results: In the overall analysis, single nucleotide polymorphisms (SNPs) in 9 loci showed significant associations with protective per-allele odds ratios of 0.78-0.87 (LAMP3, BST1, and MAPT) and susceptibility per-allele odds ratios of 1.14-1.43 (STK39, GAK, SNCA, LRRK2, SYT11, and HIP1R). For 5 of the 9 replicated SNPs there was nominally significant between-site heterogeneity in the effect sizes (I2 estimates ranged from 39% to 48%). Subgroup analysis by ethnicity showed significantly stronger effects for the BST1 (rs11724635) in Asian vs Caucasian populations and similar effects for SNCA, LRRK2, LAMP3, HIP1R, and STK39 in Asian and Caucasian populations, while MAPT rs2942168 and SYT11 rs34372695 were monomorphic in the Asian population, highlighting the role of population-specific heterogeneity in PD. Conclusion: Our study allows insight to understand the distribution of newly identified genetic factors contributing to PD and shows that large-scale evaluation in diverse populations is important to understand the role of population-specific heterogeneity. Copyright © 2012 by AAN Enterprises, Inc.
Published: 2012

32. Erratum: Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution (Nature Genetics (2010) 42 (949-960))

Author: Heid, IM, Jackson, AU, Randall, JC, Winkler, TW, Qi, L, Steinthorsdottir, V, Thorleifsson, G, Zillikens, MC, Speliotes, EK, Mägi, R, Workalemahu, T, White, CC, Bouatia-Naji, N, Harris, TB, Berndt, SI, Ingelsson, E, Willer, CJ, Weedon, MN, Luan, J, Vedantam, S, Esko, T, Kilpeläinen, TO, Kutalik, Z, Li, S, Monda, KL, Dixon, AL, Holmes, CC, Kaplan, LM, Liang, L, Min, JL, Moffatt, MF, Molony, C, Nicholson, G, Schadt, EE, Zondervan, KT, Feitosa, MF, Ferreira, T, Allen, HL, Weyant, RJ, Wheeler, E, Wood, AR, Estrada, K, Goddard, ME, Lettre, G, Mangino, M, Nyholt, DR, Purcell, S, Vernon Smith, A, Visscher, PM, Yang, J, McCarroll, SA, Nemesh, J, Voight, BF, Absher, D, Amin, N, Aspelund, T, Coin, L, Glazer, NL, Hayward, C, Heard-Costa, NL, Hottenga, J-J, Johansson, A, Johnson, T, Kaakinen, M, Kapur, K, Ketkar, S, Knowles, JW, Kraft, P, Kraja, AT, Lamina, C, Leitzmann, MF, McKnight, B, Morris, AP, Ong, KK, Perry, JRB, Peters, MJ, Polasek, O, Prokopenko, I, Rayner, NW, Ripatti, S, Rivadeneira, F, Robertson, NR, Sanna, S, Sovio, U, Surakka, I, Teumer, A, Van Wingerden, S, Vitart, V, Zhao, JH, Cavalcanti-Proença, C, Chines, PS, Fisher, E, Kulzer, JR, Lecoeur, C, Narisu, N, Sandholt, C, Scott, LJ, Silander, K, Stark, K, Tammesoo, M-L, Teslovich, TM, Timpson, NJ, Watanabe, RM, Welch, R, Chasman, DI, Cooper, MN, Jansson, J-O, Kettunen, J, Lawrence, RW, Pellikka, N, Perola, M, Vandenput, L, Alavere, H, Almgren, P, Atwood, LD, Bennett, AJ, Biffar, R, Bonnycastle, LL, Bornstein, SR, Buchanan, TA, Campbell, H, Day, INM, Dei, M, Dörr, M, Elliott, P, Erdos, MR, Eriksson, JG, Freimer, NB, Fu, M, Gaget, S, Geus, EJC, Gjesing, AP, Grallert, H, Gräßler, J, Groves, CJ, Guiducci, C, Hartikainen, A-L, Hassanali, N, Havulinna, AS, Herzig, K-H, Hicks, AA, Hui, J, Igl, W, Jousilahti, P, Jula, A, Kajantie, E, Kinnunen, L, Kolcic, I, Koskinen, S, Kovacs, P, Kroemer, HK, Krzelj, V, Kuusisto, J, Kvaloy, K, Laitinen, J, Lantieri, O, Lathrop, GM, Lokki, M-L, Luben, RN, Ludwig, B, McArdle, WL, McCarthy, A, Morken, MA, Nelis, M, Neville, MJ, Paré, G, Parker, AN, Peden, JF, Pichler, I, Pietiläinen, KH, Platou, CGP, Pouta, A, Ridderstråle, M, Samani, NJ, Saramies, J, Sinisalo, J, Smit, JH, Strawbridge, RJ, Stringham, HM, Swift, AJ, Teder-Laving, M, Thomson, B, Usala, G, Van Meurs, JBJ, Van Ommen, G-J, Vatin, V, Volpato, CB, Wallaschofski, H, Walters, GB, Widen, E, Wild, SH, Willemsen, G, Witte, DR, Zgaga, L, Zitting, P, Beilby, JP, James, AL, Kähönen, M, Lehtimäki, T, Nieminen, MS, Ohlsson, C, Palmer, LJ, Raitakari, O, Ridker, PM, Stumvoll, M, Tönjes, A, Viikari, J, Balkau, B, Ben-Shlomo, Y, Bergman, RN, Boeing, H, Smith, GD, Ebrahim, S, Froguel, P, Hansen, T, Hengstenberg, C, Hveem, K, Isomaa, B, Jørgensen, T, Karpe, F, Khaw, K-T, Laakso, M, Lawlor, DA, Marre, M, Meitinger, T, Metspalu, A, Midthjell, K, Pedersen, O, Salomaa, V, Schwarz, PEH, Tuomi, T, Tuomilehto, J, Valle, TT, Wareham, NJ, Arnold, AM, Beckmann, JS, Bergmann, S, Boerwinkle, E, Boomsma, DI, Caulfield, MJ, Collins, FS, Eiriksdottir, G, Gudnason, V, Gyllensten, U, Hamsten, A, Hattersley, AT, Hofman, A, Hu, FB, Illig, T, Iribarren, C, Jarvelin, M-R, Kao, WHL, Kaprio, J, Launer, LJ, Munroe, PB, Oostra, B, Penninx, BW, Pramstaller, PP, Psaty, BM, Quertermous, T, Rissanen, A, Rudan, I, Shuldiner, AR, Soranzo, N, Spector, TD, Syvanen, A-C, Uda, M, Uitterlinden, A, Völzke, H, Vollenweider, P, Wilson, JF, Witteman, JC, Wright, AF, Abecasis, GR, Boehnke, M, Borecki, IB, Deloukas, P, Frayling, TM, Groop, LC, Haritunians, T, Hunter, DJ, Kaplan, RC, North, KE, O'Connell, JR, Peltonen, L, Schlessinger, D, Strachan, DP, Hirschhorn, JN, Assimes, TL, Wichmann, H-E, Thorsteinsdottir, U, Van Duijn, CM, Stefansson, K, Cupples, LA, Loos, RJF, Barroso, I, McCarthy, MI, Fox, CS, Mohlke, KL, and Lindgren, CM
Published: 2011

33. Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

Author: Wain, L.V., Verwoert, G.C., O'Reilly, P.F., Shi, G., Johnson, T., Johnson, A.D., Bochud, M., Rice, K.M., Henneman, P., Smith, A.V., Ehret, G.B., Amin, N., Larson, M.G., Mooser, V., Hadley, D., Dorr, M., Bis, J.C., Aspelund, T., Esko, T., Janssens, A.C.J.W., Zhao, J.H., Heath, S., Laan, M., Fu, J.Y., Pistis, G., Luan, J.A., Arora, P., Lucas, G., Pirastu, N., Pichler, I., Jackson, A.U., Webster, R.J., Zhang, F., Peden, J.F., Schmidt, H., Tanaka, T., Campbell, H., Igl, W., Milaneschi, Y., Hottenga, J.J., Vitart, V., Chasman, D.I., Trompet, S., Bragg-Gresham, J.L., Alizadeh, B.Z., Chambers, J.C., Guo, X.Q., Lehtimaki, T., Kuhnel, B., Lopez, L.M., Polasek, O., Boban, M., Nelson, C.P., Morrison, A.C., Pihur, V., Ganesh, S.K., Hofman, A., Kundu, S., Mattace-Raso, F.U.S., Rivadeneira, F., Sijbrands, E.J.G., Uitterlinden, A.G., Hwang, S.J., Vasan, R.S., Wang, T.J., Bergmann, S., Vollenweider, P., Waeber, G., Laitinen, J., Pouta, A., Zitting, P., McArdle, W.L., Kroemer, H.K., Volker, U., Volzke, H., Glazer, N.L., Taylor, K.D., Harris, T.B., Alavere, H., Haller, T., Keis, A., Tammesoo, M.L., Aulchenko, Y., Barroso, I., Khaw, K.T., Galan, P., Hercberg, S., Lathrop, M., Eyheramendy, S., Org, E., Sober, S., Lu, X.W., Nolte, I.M., Penninx, B.W., Corre, T., Masciullo, C., Sala, C., Groop, L., Voight, B.F., Melander, O., O'Donnell, C.J., Salomaa, V., d'Adamo, A.P., Fabretto, A., Faletra, F., Ulivi, S., Greco, M.F. del, Facheris, M., Collins, F.S., Bergman, R.N., Beilby, J.P., Hung, J., Musk, A.W., Mangino, M., Shin, S.Y., Soranzo, N., Watkins, H., Goel, A., Hamsten, A., Gider, P., Loitfelder, M., Zeginigg, M., Hernandez, D., Najjar, S.S., Navarro, P., Wild, S.H., Corsi, A.M., Singleton, A., Geus, E.J.C. de, Willemsen, G., Parker, A.N., Rose, L.M., Buckley, B., Stott, D., Orru, M., Uda, M., Klauw, M.M. van der, Zhang, W.H., Li, X.Z., Scott, J., Chen, Y.D.I., Burke, G.L., Kahonen, M., Viikari, J., Doring, A., Meitinger, T., Davies, G., Starr, J.M., Emilsson, V., Plump, A., Lindeman, J.H., Hoen, P.A.C. 't, Konig, I.R., Felix, J.F., Clarke, R., Hopewell, J.C., Ongen, H., Breteler, M., Debette, S., DeStefano, A.L., Fornage, M., Mitchell, G.F., Smith, N.L., Holm, H., Stefansson, K., Thorleifsson, G., Thorsteinsdottir, U., Samani, N.J., Preuss, M., Rudan, I., Hayward, C., Deary, I.J., Wichmann, H.E., Raitakari, O.T., Palmas, W., Kooner, J.S., Stolk, R.P., Jukema, J.W., Wright, A.F., Boomsma, D.I., Bandinelli, S., Gyllensten, U.B., Wilson, J.F., Ferrucci, L., Schmidt, R., Farrall, M., Spector, T.D., Palmer, L.J., Tuomilehto, J., Pfeufer, A., Gasparini, P., Siscovick, D., Altshuler, D., Loos, R.J.F., Toniolo, D., Snieder, H., Gieger, C., Meneton, P., Wareham, N.J., Oostra, B.A., Metspalu, A., Launer, L., Rettig, R., Strachan, D.P., Beckmann, J.S., Witteman, J.C.M., Erdmann, J., Dijk, K.W. van, Boerwinkle, E., Boehnke, M., Ridker, P.M., Jarvelin, M.R., Chakravarti, A., Abecasis, G.R., Gudnason, V., Newton-Cheh, C., Levy, D., Munroe, P.B., Psaty, B.M., Caulfield, M.J., Rao, D.C., Tobin, M.D., Elliott, P., Duijn, C.M. van, LifeLines Cohort Study, EchoGen Consortium, AortaGen Consortium, CHARGE Consortium Heart Failure, KidneyGen Consortium, CKDGen Consortium, Cardiogenics Consortium, and CardioGram
Published: 2011

34. Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

Author: Wain, LV, Verwoert, GC, O'Reilly, PF, Shi, G, Johnson, T, Johnson, AD, Bochud, M, Rice, KM, Henneman, P, Smith, AV, Ehret, GB, Amin, N, Larson, MG, Mooser, V, Hadley, D, Dörr, M, Bis, JC, Aspelund, T, Esko, T, Janssens, AC, Zhao, JH, Heath, S, Laan, M, Fu, J, Pistis, G, Luan, J, Arora, P, Lucas, G, Pirastu, N, Pichler, I, Jackson, AU, Webster, RJ, Zhang, F, Peden, JF, Schmidt, H, Tanaka, T, Campbell, H, Igl, W, Milaneschi, Y, Hottenga, JJ, Vitart, V, Chasman, DI, Trompet, S, Bragg-Gresham, JL, Alizadeh, BZ, Chambers, JC, Guo, X, Lehtimäki, T, Kühnel, B, Lopez, LM, Polašek, O, Boban, M, Nelson, CP, Morrison, AC, Pihur, V, Ganesh, SK, Hofman, A, Kundu, S, Mattace-Raso, FU, Rivadeneira, F, Sijbrands, EJ, Uitterlinden, AG, Hwang, SJ, Vasan, RS, Wang, TJ, Bergmann, S, Vollenweider, P, Waeber, G, Laitinen, J, Pouta, A, Zitting, P, McArdle, WL, Kroemer, HK, Völker, U, Völzke, H, Glazer, NL, Taylor, KD, Harris, TB, Alavere, H, Haller, T, Keis, A, Tammesoo, ML, Aulchenko, Y, Barroso, I, Khaw, KT, Galan, P, Hercberg, S, Lathrop, M, Eyheramendy, S, Org, E, Sõber, S, Lu, X, Nolte, IM, Penninx, BW, Corre, T, Masciullo, C, Sala, C, Groop, L, Voight, BF, Melander, O, O'Donnell, CJ, Salomaa, V, d'Adamo, AP, Fabretto, A, Faletra, F, Ulivi, S, Del Greco, F, Facheris, M, Collins, FS, Bergman, RN, Beilby, JP, Hung, J, Musk, AW, Mangino, M, Shin, SY, Soranzo, N, Watkins, H, Goel, A, Hamsten, A, Gider, P, Loitfelder, M, Zeginigg, M, Hernandez, D, Najjar, SS, Navarro, P, Wild, SH, Corsi, AM, Singleton, A, de Geus, EJ, Willemsen, G, Parker, AN, Rose, LM, Buckley, B, Stott, D, Orru, M, Uda, M, LifeLines Cohort Study, van der Klauw, MM, Zhang, W, Li, X, Scott, J, Chen, YD, Burke, GL, Kähönen, M, Viikari, J, Döring, A, Meitinger, T, Davies, G, Starr, JM, Emilsson, V, Plump, A, Lindeman, JH, Hoen, PA, König, IR, EchoGen consortium, Felix, JF, Clarke, R, Hopewell, JC, Ongen, H, Breteler, M, Debette, S, Destefano, AL, Fornage, M, AortaGen Consortium, Mitchell, GF, CHARGE Consortium Heart Failure Working Group, Smith, NL, KidneyGen consortium, Holm, H, Stefansson, K, Thorleifsson, G, Thorsteinsdottir, U, CKDGen consortium, Cardiogenics consortium, CardioGram, Samani, NJ, Preuss, M, Rudan, I, Hayward, C, Deary, IJ, Wichmann, HE, Raitakari, OT, Palmas, W, Kooner, JS, Stolk, RP, Jukema, JW, Wright, AF, Boomsma, DI, Bandinelli, S, Gyllensten, UB, Wilson, JF, Ferrucci, L, Schmidt, R, Farrall, M, Spector, TD, Palmer, LJ, Tuomilehto, J, Pfeufer, A, Gasparini, P, Siscovick, D, Altshuler, D, Loos, RJ, Toniolo, D, Snieder, H, Gieger, C, Meneton, P, Wareham, NJ, Oostra, BA, Metspalu, A, Launer, L, Rettig, R, Strachan, DP, Beckmann, JS, Witteman, JC, Erdmann, J, van Dijk, KW, Boerwinkle, E, Boehnke, M, Ridker, PM, Jarvelin, MR, Chakravarti, A, Abecasis, GR, Gudnason, V, Newton-Cheh, C, Levy, D, Munroe, PB, Psaty, BM, Caulfield, MJ, Rao, DC, Tobin, MD, Elliott, P, and van Duijn, CM
Published: 2011

35. Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes

Author: Strawbridge, R.J. Dupuis, J. Prokopenko, I. Barker, A. Ahlqvist, E. Rybin, D. Petrie, J.R. Travers, M.E. Bouatia-Naji, N. Dimas, A.S. Nica, A.C. Wheeler, E. Chen, H. Voight, B.F. Taneera, J. Kanoni, S. Peden, J.F. Turrini, F. Gustafsson, S. Zabena, C. Almgren, P. Barker, D.J.P. Barnes, D. Dennison, E.M. Eriksson, J.G. Eriksson, P. Eury, E. Folkersen, L. Fox, C.S. Frayling, T.M. Goel, A. Gu, H.F. Horikoshi, M. Isomaa, B. Jackson, A.U. Jameson, K.A. Kajantie, E. Kerr-Conte, J. Kuulasmaa, T. Kuusisto, J. Loos, R.J.F. Luan, J. Makrilakis, K. Manning, A.K. Martínez-Larrad, M.T. Narisu, N. Mannila, M.N. Öhrvik, J. Osmond, C. Pascoe, L. Payne, F. Sayer, A.A. Sennblad, B. Silveira, A. Stančcáková, A. Stirrups, K. Swift, A.J. Syvänen, A.-C. Tuomi, T. Van't Hooft, F.M. Walker, M. Weedon, M.N. Xie, W. Zethelius, B. Scott, L.J. Steinthorsdottir, V. Morris, A.P. Dina, C. Welch, R.P. Zeggini, E. Huth, C. Aulchenko, Y.S. Thorleifsson, G. Mcculloch, L.J. Ferreira, T. Grallert, H. Amin, N. Wu, G. Willer, C.J. Raychaudhuri, S. McCarroll, S.A. Hofmann, O.M. Qi, L. Segre, A.V. Van Hoek, M. Navarro, P. Ardlie, K. Balkau, B. Benediktsson, R. Bennett, A.J. Blagieva, R. Boerwinkle, E. Bonnycastle, L.L. Bostrom, K.B. Bravenboer, B. Bumpstead, S. Burtt, N.P. Charpentier, G. Chines, P.S. Cornelis, M. Couper, D.J. Crawford, G. Doney, A.S.F. Elliott, K.S. Elliott, A.L. Erdos, M.R. Franklin, C.S. Ganser, M. Gieger, C. Grarup, N. Green, T. Griffin, S. Groves, C.J. Guiducci, C. Hadjadj, S. Hassanali, N. Herder, C. Johnson, P.R.V. Jorgensen, T. Kao, W.H.L. Klopp, N. Kong, A. Kraft, P. Lauritzen, T. Li, M. Lieverse, A. Lindgren, C.M. Lyssenko, V. Marre, M. Meitinger, T. Midthjell, K. Morken, M.A. Nilsson, P. Owen, K.R. Perry, J.R.B. Petersen, A.-K. Platou, C. Proenca, C. Rathmann, W. Rayner, N.W. Robertson, N.R. Rocheleau, G. Roden, M. Sampson, M.J. Saxena, R. Shields, B.M. Shrader, P. Sigurdsson, G. Sparso, T. Strassburger, K. Stringham, H.M. Sun, Q. Thorand, B. Tichet, J. Van Dam, R.M. Van Haeften, T.W. Van Herpt, T. Van Vliet-Ostaptchouk, J.V. Walters, G.B. Wijmenga, C. Witteman, J.C.M. Bergman, R.N. Cauchi, S. Collins, F.S. Gloyn, A.L. Gyllensten, U. Hansen, T. Hide, W.A. Hitman, G.A. Hofman, A. Hunter, D.J. Hveem, K. Laakso, M. Mohlke, K.L. Morris, A.D. Palmer, C.N.A. Pramstaller, P.P. Rudan, I. Sijbrands, E. Stein, L.D. Tuomilehto, J. Uitterlinden, A.G. Wareham, N.J. Watanabe, R.M. Abecasis, G.R. Boehm, B.O. Campbell, H. Daly, M.J. Hattersley, A.T. Hu, F.B. Meigs, J.B. Pankow, J.S. Pedersen, O. Wichmann, H.-E. Barroso, I. Groop, L. Sladek, R. Thorsteinsdottir, U. Wilson, J.F. Illig, T. Froguel, P. Van Duijn, C.M. Stefansson, K. Altshuler, D. Boehnke, M. McCarthy, M.I. Speliotes, E.K. Berndt, S.I. Monda, K.L. Allen, H.L. Magi, R. Randall, J.C. Vedantam, S. Winkler, T.W. Workalemahu, T. Heid, I.M. Wood, A.R. Weyant, R.J. Estrada, K. Liang, L. Nemesh, J. Park, J.-H. Kilpelainen, T.O. Yang, J. Esko, T. Feitosa, M.F. Kutalik, Z. Mangino, M. Scherag, A. Smith, A.V. Zhao, J.H. Aben, K.K. Absher, D.M. Dixon, A.L. Fisher, E. Glazer, N.L. Goddard, M.E. Heard-Costa, N.L. Hoesel, V. Hottenga, J.-J. Johansson, A. Johnson, T. Ketkar, S. Lamina, C. Li, S. Moffatt, M.F. Myers, R.H. Peters, M.J. Preuss, M. Ripatti, S. Rivadeneira, F. Sandholt, C. Timpson, N.J. Tyrer, J.P. Van Wingerden, S. White, C.C. Wiklund, F. Barlassina, C. Chasman, D.I. Cooper, M.N. Jansson, J.-O. Lawrence, R.W. Pellikka, N. Shi, J. Thiering, E. Alavere, H. Alibrandi, M.T.S. Arnold, A.M. Aspelund, T. Atwood, L.D. Balmforth, A.J. Ben-Shlomo, Y. Bergmann, S. Biebermann, H. Blakemore, A.I.F. Boes, T. Bornstein, S.R. Brown, M.J. Buchanan, T.A. Busonero, F. Cappuccio, F.P. Cavalcanti-Proenca, C. Chen, Y.-D.I. Chen, C.-M. Clarke, R. Coin, L. Connell, J. Day, I.N.M. Den Heijer, M. Duan, J. Ebrahim, S. Elliott, P. Elosua, R. Eiriksdottir, G. Facheris, M.F. Felix, S.B. Fischer-Posovszky, P. Folsom, A.R. Friedrich, N. Freimer, N.B. Fu, M. Gaget, S. Gejman, P.V. Geus, E.J.C. Gjesing, A.P. Goyette, P. Grasler, J. Greenawalt, D.M. Gudnason, V. Hartikainen, A.-L. Hall, A.S. Havulinna, A.S. Hayward, C. Heath, A.C. Hengstenberg, C. Hicks, A.A. Hinney, A. Homuth, G. Hui, J. Igl, W. Iribarren, C. Jacobs, K.B. Jarick, I. Jewell, E. John, U. Jousilahti, P. Jula, A. Kaakinen, M. Kaplan, L.M. Kathiresan, S. Kettunen, J. Kinnunen, L. Knowles, J.W. Kolcic, I. König, I.R. Koskinen, S. Kovacs, P. Kvaloy, K. Laitinen, J. Lantieri, O. Lanzani, C. Launer, L.J. Lecoeur, C. Lehtimaki, T. Lettre, G. Liu, J. Lokki, M.-L. Lorentzon, M. Luben, R.N. Ludwig, B. Manunta, P. Marek, D. Martin, N.G. McArdle, W.L. McCarthy, A. McKnight, B. Melander, O. Meyre, D. Montgomery, G.W. Mulic, R. Ngwa, J.S. Nelis, M. Neville, M.J. Nyholt, D.R. O'Donnell, C.J. O'Rahilly, S. Ong, K.K. Oostra, B. Pare, G. Parker, A.N. Perola, M. Pichler, I. Pietilainen, K.H. Platou, C.G.P. Polasek, O. Pouta, A. Rafelt, S. Raitakari, O. Rayner, N.W. Ridderstrale, M. Rief, W. Ruokonen, A. Rzehak, P. Salomaa, V. Sanders, A.R. Sandhu, M.S. Sanna, S. Saramies, J. Savolainen, M.J. Scherag, S. Schipf, S. Schreiber, S. Schunkert, H. Silander, K. Sinisalo, J. Siscovick, D.S. Smit, J.H. Soranzo, N. Sovio, U. Stephens, J. Surakka, I. Tammesoo, M.-L. Tardif, J.-C. Teder-Laving, M. Teslovich, T.M. Thompson, J.R. Thomson, B. Tonjes, A. Van Meurs, J.B.J. Van Ommen, G.-J. Vatin, V. Viikari, J. Visvikis-Siest, S. Vitart, V. Vogel, C.I.G. Waite, L.L. Wallaschofski, H. Widen, E. Wiegand, S. Wild, S.H. Willemsen, G. Witte, D.R. Xu, J. Zhang, Q. Zgaga, L. Ziegler, A. Zitting, P. Beilby, J.P. Farooqi, I.S. Hebebrand, J. Huikuri, H.V. James, A.L. Kahonen, M. Levinson, D.F. Macciardi, F. Nieminen, M.S. Ohlsson, C. Palmer, L.J. Ridker, P.M. Stumvoll, M. Beckmann, J.S. Boeing, H. Boomsma, D.I. Caulfield, M.J. Chanock, S.J. Cupples, L.A. Smith, G.D. Erdmann, J. Gronberg, H. Hall, P. Harris, T.B. Hayes, R.B. Heinrich, J. Jarvelin, M.-R. Kaprio, J. Karpe, F. Khaw, K.-T. Kiemeney, L.A. Krude, H. Lawlor, D.A. Metspalu, A. Munroe, P.B. Ouwehand, W.H. Penninx, B.W. Peters, A. Quertermous, T. Reinehr, T. Rissanen, A. Samani, N.J. Schwarz, P.E.H. Shuldiner, A.R. Spector, T.D. Uda, M. Valle, T.T. Wabitsch, M. Waeber, G. Watkins, H. Wright, A.F. Zillikens, M.C. Chatterjee, N. Purcell, S. Schadt, E.E. Visscher, P.M. Assimes, T.L. Borecki, I.B. Deloukas, P. Haritunians, T. Kaplan, R.C. O'Connell, J.R. Peltonen, L. Schlessinger, D. Strachan, D.P. North, K.E. Hirschhorn, J.N. Ingelsson, E. Parts, L. Glass, D. Nisbet, J. Barrett, A. Sekowska, M. Potter, S. Grundberg, E. Small, K. Hedman, A.K. Bataille, V. Bell, J.T. Surdulescu, G. Ingle, C. Nestle, F.O. Di Meglio, P. Min, J.L. Wilk, A. Hammond, C.J. Yang, T.-P. Montgomery, S.B. Zondervan, K.T. Durbin, R. Ahmadi, K. Dermitzakis, E.T. Reilly, M.P. Holm, H. Stewart, A.F.R. Barbalic, M. Aherrahrou, Z. Allayee, H. Anand, S.S. Andersen, K. Anderson, J.L. Ardissino, D. Ball, S.G. Barnes, T.A. Becker, D.M. Becker, L.C. Berger, K. Bis, J.C. Boekholdt, S.M. Braund, P.S. Burnett, M.S. Buysschaert, I. Carlquist, J.F. Chen, L. Codd, V. Davies, R.W. Cichon, S. Dedoussis, G.V. Demissie, S. Dehghan, A. Devaney, J.M. Diemert, P. Do, R. Doering, A. Eifert, S. El Mokhtari, N.E. Ellis, S.G. Engert, J.C. Epstein, S.E. De Faire, U. Fischer, M. Freyer, J. Gigante, B. Girelli, D. Gretarsdottir, S. Gulcher, J.R. Halperin, E. Hammond, N. Hazen, S.L. Horne, B.D. Jones, G.T. Jukema, J.W. Kaiser, M.A. Kastelein, J.J.P. Kolovou, G. Laaksonen, R. Lambrechts, D. Leander, K. Li, M. Lieb, W. Loley, C. Lotery, A.J. Mannucci, P.M. Maouche, S. Martinelli, N. McKeown, P.P. Meisinger, C. Merlini, P.A. Mooser, V. Morgan, T. Mühleisen, T.W. Muhlestein, J.B. Münzel, T. Musunuru, K. Nahrstaedt, J. Nelson, C.P. Nöthen, M.M. Olivieri, O. Patel, R.S. Patterson, C.C. Peyvandi, F. Qu, L. Quyyumi, A.A. Rader, D.J. Rallidis, L.S. Rice, C. Rosendaal, F.R. Rubin, D. Sampietro, M.L. Sandhu, M.S. Schadt, E. Schäfer, A. Schillert, A. Schrezenmeir, J. Schwartz, S.M. Sivananthan, M. Sivapalaratnam, S. Smith, T.B. Snoep, J.D. Spertus, J.A. Stark, K. Stoll, M. Wilson Tang, W.H. Tennstedt, S. Thorgeirsson, G. Tomaszewski, M. Van Rij, A.M. Wells, G.A. Wild, P.S. Willenborg, C. Wright, B.J. Ye, S. Zeller, T. Cambien, F. Goodall, A.H. Marz, W. Blankenberg, S. Roberts, R. McPherson, R. Hopewell, J.C. Parish, S. Offer, A. Bowman, L. Sleight, P. Armitage, J. Peto, R. Collins, R. Chambers, J.C. Ahmed, N. Donnelly, P. Kooner, A.S. Scott, J. Sehmi, J. Zhang, W. Kooner, J. Sabater-Lleal, M. Mälarstig, A. Hellénius, M.-L. Olsson, G. Rust, S. Assmann, G. Seedorf, U. Barlera, S. Tognoni, G. Franzosi, M.G. Linksted, P. Ongen, H. Kyriakou, T. Green, F. Farrall, M. Saleheen, D. Rasheed, A. Zaidi, M. Shah, N. Samuel, M. Mallick, N. Azhar, M. Zaman, K. Samad, A. Ishaq, M. Gardezi, A. Memon, F.-U.-R. Frossard, P. Danesh, J. Östenson, C.-G. Lind, L. Cooper, C.C. Serrano-Ríos, M. Ferrannini, E. Forsen, T.J. Pattou, F. Langenberg, C. Hamsten, A. Florez, J.C.
Subjects: endocrine system, endocrine system diseases, nutritional and metabolic diseases
Abstract: OBJECTIVE - Proinsulin is a precursor of mature insulin and C-peptide. Higher circulating proinsulin levels are associated with impaired b-cell function, raised glucose levels, insulin resistance, and type 2 diabetes (T2D). Studies of the insulin processing pathway could provide new insights about T2D pathophysiology. RESEARCH DESIGN AND METHODS - We have conducted a meta-analysis of genome-wide association tests of ;2.5 million genotyped or imputed single nucleotide polymorphisms (SNPs) and fasting proinsulin levels in 10,701 nondiabetic adults of European ancestry, with follow-up of 23 loci in up to 16,378 individuals, using additive genetic models adjusted for age, sex, fasting insulin, and study-specific covariates. RESULTS - Nine SNPs at eight loci were associated with proinsulin levels (P < 5 × 10-8). Two loci (LARP6 and SGSM2) have not been previously related to metabolic traits, one (MADD) has been associated with fasting glucose, one (PCSK1) has been implicated in obesity, and four (TCF7L2, SLC30A8, VPS13C/ C2CD4A/B, and ARAP1, formerly CENTD2) increase T2D risk. The proinsulin-raising allele of ARAP1 was associated with a lower fasting glucose (P = 1.7 3 10-4), improved b-cell function (P = 1.1 × 10-5), and lower risk of T2D (odds ratio 0.88; P = 7.8 × 10-6). Notably, PCSK1 encodes the protein prohormone convertase 1/3, the first enzyme in the insulin processing pathway. A genotype score composed of the nine proinsulin-raising alleles was not associated with coronary disease in two large case-control datasets. CONCLUSIONS - We have identified nine genetic variants associated with fasting proinsulin. Our findings illuminate the biology underlying glucose homeostasis and T2D development in humans and argue against a direct role of proinsulin in coronary artery disease pathogenesis. © 2011 by the American Diabetes Association.
Published: 2011

36. Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes

Author: Strawbridge, Rj, Dupuis, J, Prokopenko, I, Barker, A, Ahlqvist, E, Rybin, D, Petrie, Jr, Travers, Me, Bouatia Naji, N, Dimas, As, Nica, A, Wheeler, E, Chen, H, Voight, Bf, Taneera, J, Kanoni, S, Peden, Jf, Turrini, F, Gustafsson, S, Zabena, C, Almgren, P, Barker, Dj, Barnes, D, Dennison, Em, Eriksson, Jg, Eriksson, P, Eury, E, Folkersen, L, Fox, Cs, Frayling, Tm, Goel, A, Gu, Hf, Horikoshi, M, Isomaa, B, Jackson, Au, Jameson, Ka, Kajantie, E, Kerr Conte, J, Kuulasmaa, T, Kuusisto, J, Loos, Rj, Luan, J, Makrilakis, K, Manning, Ak, Martínez Larrad MT, Narisu, N, Nastase Mannila, M, Ohrvik, J, Osmond, C, Pascoe, L, Payne, F, Sayer, Aa, Sennblad, B, Silveira, A, Stancáková, A, Stirrups, K, Swift, Aj, Syvänen, Ac, Tuomi, T, van 't Hooft FM, Walker, M, Weedon, Mn, Xie, W, Zethelius, B, Diagram, Consortium, Giant, Consortium, Muther, Consortium, Cardiogram, Consortium, C4d, Consortium, Ongen, H, Mälarstig, A, Hopewell, Jc, Saleheen, D, Chambers, J, Parish, S, Danesh, J, Kooner, J, Ostenson, Cg, Lind, L, Cooper, Cc, Serrano Ríos, M, Ferrannini, E, Forsen, Tj, Clarke, R, Franzosi, Mg, Seedorf, U, Watkins, H, Froguel, P, Johnson, P, Deloukas, P, Collins, Fs, Laakso, M, Dermitzakis, Et, Boehnke, M, Mccarthy, Mi, Wareham, Nj, Groop, L, Pattou, F, Gloyn, Al, Dedoussis, Gv, Lyssenko, V, Meigs, Jb, Barroso, I, Watanabe, Rm, Ingelsson, E, Langenberg, C, Hamsten, A, Voight BF, Florez J. C., Scott, Lj, Steinthorsdottir, V, Morris, Ap, Dina, C, Welch, Rp, Zeggini, E, Huth, C, Aulchenko, Ys, Thorleifsson, G, Mcculloch, Lj, Ferreira, T, Grallert, H, Amin, N, Wu, G, Willer, Cj, Raychaudhuri, S, Mccarroll, Sa, Hofmann, Om, Qi, L, Segrè, Av, van Hoek, M, Navarro, P, Ardlie, K, Balkau, B, Benediktsson, R, Bennett, Aj, Blagieva, R, Boerwinkle, E, Bonnycastle, Ll, Bengtsson Boström, K, Bravenboer, B, Bumpstead, S, Burtt, P, Charpentier, G, Chines, Ps, Cornelis, M, Couper, Dj, Crawford, G, Doney, As, Elliott, Ks, Elliott, Al, Erdos, Mr, Franklin, Cs, Gieger, C, Grarup, N, Green, T, Griffin, S, Groves, Cj, Guiducci, C, Hadjadj, S, Hassanali, N, Herder, C, Johnson, Pr, Jørgensen, T, Kao, Wh, Klopp, N, Kong, A, Kraft, P, Lauritzen, T, Li, M, Lieverse, A, Lindgren, Cm, Marre, M, Meitinger, T, Midthjell, K, Morken, Ma, Nilsson, P, Owen, Kr, Perry, Jr, Petersen, K, Platou, C, Proença, C, Rathmann, W, William Rayner, N, Robertson, Nr, Rocheleau, G, Roden, M, Sampson, Mj, Saxena, R, Shields, Bm, Shrader, P, Sigurdsson, G, Sparsø, T, Strassburger, K, Stringham, Hm, Sun, Q, Thorand, B, Tichet, J, van Dam RM, van Haeften TW, van Herpt, T, van Vliet JV, Bragi Walters, G, Wijmenga, C, Witteman, J, Bergman, Rn, Cauchi, S, Gyllensten, U, Hansen, T, Hide, Wa, Hitman, Ga, Hofman, A, Hunter, Dj, Hveem, K, Mohlke, Kl, Morris, Ad, Palmer, Cn, Pramstaller, Pp, Rudan, I, Sijbrands, E, Stein, Ld, Tuomilehto, J, Uitterlinden, A, Abecasis, Gr, Boehm, Bo, Campbell, H, Daly, Mj, Hattersley, At, Hu, Fb, Pankow, Js, Pedersen, O, Wichmann, E, Florez, Jc, Sladek, R, Thorsteinsdottir, U, Wilson, Jf, Illig, T, Stefansson, K, Altshuler, D, Speliotes, Ek, Berndt, Si, Monda, Kl, Allen, Hl, Mägi, R, Randall, Jc, Vedantam, S, Winkler, Tw, Workalemahu, T, Heid, Im, Wood, Ar, Weyant, Rj, Estrada, K, Liang, L, Nemesh, J, Park, Jh, Kilpeläinen, To, Yang, J, Esko, T, Feitosa, Mf, Kutalik, Z, Mangino, M, Scherag, A, Smith, Av, Welch, R, Zhao, Jh, Aben, Kk, Absher, Dm, Dixon, Al, Fisher, E, Glazer, Nl, Goddard, Me, Heard Costa NL, Hoesel, V, Hottenga, Jj, Johansson, Å, Johnson, T, Ketkar, S, Lamina, C, Li, S, Moffatt, Mf, Myers, Rh, Peters, Mj, Preuss, M, Ripatti, S, Rivadeneira, F, Sandholt, C, Timpson, Nj, Tyrer, Jp, van Wingerden, S, White, Cc, Wiklund, F, Barlassina, C, Chasman, Di, Cooper, Mn, Jansson, Jo, Lawrence, Rw, Pellikka, N, Shi, J, Thiering, E, Alavere, H, Alibrandi, Mt, Arnold, Am, Aspelund, T, Atwood, Ld, Balmforth, Aj, Ben Shlomo, Y, Bergmann, S, Biebermann, H, Blakemore, Ai, Boes, T, Bornstein, Sr, Brown, Mj, Buchanan, Ta, Busonero, F, Cappuccio, Fp, Cavalcanti Proença, C, Ida Chen YD, Chen, Cm, Coin, L, Connell, J, Day, In, den Heijer, M, Duan, J, Ebrahim, S, Elliott, P, Elosua, R, Eiriksdottir, G, Facheris, Mf, Felix, Sb, Fischer Posovszky, P, Folsom, Ar, Friedrich, N, Freimer, Nb, Fu, M, Gaget, S, Gejman, Pv, Geus, Ej, Gjesing, Ap, Goyette, P, Grässler, J, Greenawalt, Dm, Gudnason, V, Hartikainen, Al, Hall, As, Havulinna, As, Hayward, C, Heath, Ac, Hengstenberg, C, Hicks, Aa, Hinney, A, Homuth, G, Hui, J, Igl, W, Iribarren, C, Jacobs, Kb, Jarick, I, Jewell, E, John, U, Jousilahti, P, Jula, A, Kaakinen, M, Kaplan, Lm, Kathiresan, S, Kettunen, J, Kinnunen, L, Knowles, Jw, Kolcic, I, König, Ir, Koskinen, S, Kovacs, P, Kvaløy, K, Laitinen, J, Lantieri, O, Lanzani, C, Launer, Lj, Lecoeur, C, Terho, L, Lettre, G, Liu, J, Lokki, Ml, Lorentzon, M, Luben, Rn, Ludwig, B, Magic, Manunta, P, Marek, D, Martin, Ng, Mcardle, Wl, Mccarthy, A, Mcknight, B, Melander, O, Meyre, D, Montgomery, Gw, Mulic, R, Ngwa, Js, Nelis, M, Neville, Mj, Nyholt, Dr, O'Donnell, Cj, O'Rahilly, S, Ong, Kk, Oostra, B, Paré, G, Parker, An, Perola, M, Pichler, I, Pietiläinen, Kh, Platou, Cg, Polasek, O, Pouta, A, Rafelt, S, Raitakari, O, Rayner, Nw, Ridderstråle, M, Rief, W, Ruokonen, A, Rzehak, P, Salomaa, V, Sanders, Ar, Sandhu, Ms, Sanna, S, Saramies, J, Savolainen, Mj, Scherag, S, Schipf, S, Schreiber, S, Schunkert, H, Silander, K, Sinisalo, J, Siscovick, Ds, Smit, Jh, Soranzo, N, Sovio, U, Stephens, J, Surakka, I, Tammesoo, Ml, Tardif, Jc, Teder Laving, M, Teslovich, Tm, Thompson, Jr, Thomson, B, Tönjes, A, van Meurs JB, van Ommen GJ, Vatin, V, Viikari, J, Visvikis Siest, S, Vitart, V, Vogel, Ci, Waite, Ll, Wallaschofski, H, Walters, Gb, Widen, E, Wiegand, S, Wild, Sh, Willemsen, G, Witte, Dr, Witteman, Jc, Xu, J, Zhang, Q, Zgaga, L, Ziegler, A, Zitting, P, Beilby, Jp, Farooqi, Is, Hebebrand, J, Huikuri, Hv, James, Al, Kähönen, M, Levinson, Df, Macciardi, F, Nieminen, Ms, Ohlsson, C, Palmer, Lj, Ridker, Pm, Stumvoll, M, Beckmann, Js, Boeing, H, Dorret, I. B., Caulfield, Mj, Chanock, Sj, Cupples, La, Smith, Gd, Erdmann, J, Grönberg, H, Hall, P, Harris, Tb, Hayes, Rb, Heinrich, J, Jarvelin, Mr, Kaprio, J, Karpe, F, Khaw, Kt, Kiemeney, La, Krude, H, Lawlor, Da, Metspalu, A, Munroe, Pb, Ouwehand, Wh, Penninx, Bw, Peters, A, Quertermous, T, Reinehr, T, Rissanen, A, Samani, Nj, Schwarz, Pe, Shuldiner, Ar, Spector, Td, Uda, M, Valle, Tt, Wabitsch, M, Waeber, G, Shaun, P, Eric, E. S., Peter, M. V., Assimes, Tl, Borecki, Ib, Groop, Lc, Haritunians, T, Kaplan, Rc, O'Connell, Jr, Peltonen, L, Schlessinger, D, Strachan, Dp, van Duijn CM, Barroso, H, North, Ke, Hirschhorn, Jn, Nica, Ac, Parts, L, Glass, D, Nisbet, J, Barrett, A, Sekowska, M, Travers, M, Potter, S, Grundberg, E, Small, K, Hedman, Åk, Bataille, V, Bell, Jt, Surdulescu, G, Ingle, C, Nestle, Fo, di Meglio, P, Min, Jl, Wilk, A, Hammond, Cj, Yang, Tp, Montgomery, Sb, Zondervan, Kt, Durbin, R, Ahmadi, K, Reilly, Mp, Holm, H, Stewart, Af, Barbalic, M, Absher, D, Aherrahrou, Z, Allayee, H, Anand, Ss, Andersen, K, Anderson, Jl, Ardissino, D, Ball, Sg, Barnes, Ta, Becker, Dm, Becker, Lc, Berger, K, Bis, Jc, Boekholdt, Sm, Braund, Ps, Burnett, Ms, Buysschaert, I, Cardiogenics, Carlquist, Jf, Chen, L, Cichon, S, Codd, V, Davies, Rw, Dedoussis, G, Dehghan, A, Demissie, S, Devaney, Jm, Diemert, P, Do, R, Doering, A, Eifert, S, El Mokhtari NE, Ellis, Sg, Engert, Jc, Epstein, Se, de Faire, U, Fischer, M, Freyer, J, Gigante, B, Girelli, Domenico, Gretarsdottir, S, Gulcher, Jr, Halperin, E, Hammond, N, Hazen, Sl, Horne, Bd, Jones, Gt, Jukema, Jw, Kaiser, Ma, Kastelein, Jj, Kolovou, G, Laaksonen, R, Lambrechts, D, Leander, K, Lieb, W, Loley, C, Lotery, Aj, Mannucci, Pm, Maouche, S, Martinelli, Nicola, Mckeown, Pp, Meisinger, C, Merlini, Pa, Mooser, V, Morgan, T, Mühleisen, Tw, Muhlestein, Jb, Münzel, T, Musunuru, K, Nahrstaedt, J, Nelson, Cp, Nöthen, Mm, Olivieri, Oliviero, Patel, Rs, Patterson, Cc, Peyvandi, F, Qu, L, Quyyumi, Aa, Rader, Dj, Rallidis, Ls, Rice, C, Rosendaal, Fr, Rubin, D, Sampietro, Ml, Schadt, E, Schäfer, A, Schillert, A, Schrezenmeir, J, Schwartz, Sm, Sivananthan, M, Sivapalaratnam, S, Smith, A, Smith, Tb, Snoep, Jd, Spertus, Ja, Stark, K, Stoll, M, Tang, Wh, Tennstedt, S, Thorgeirsson, G, Tomaszewski, M, Uitterlinden, Ag, van Rij AM, Wells, Ga, Wichmann, He, Wild, Ps, Willenborg, C, Wright, Bj, Ye, S, Zeller, T, Cambien, F, Goodall, Ah, März, W, Blankenberg, S, Roberts, R, Mcpherson, R, Nilesh, J. S., Medical Research Council (MRC), Nica, Alexandra, Ongen, Halit, Dermitzakis, Emmanouil, ACS - Amsterdam Cardiovascular Sciences, Cardiology, Vascular Medicine, Biological Psychology, EMGO+ - Lifestyle, Overweight and Diabetes, Scherag, Andre (Beitragende*r), Hinney, Anke (Beitragende*r), Scherag, S. (Beitragende*r), Vogel, C (Beitragende*r), Hebebrand, Johannes (Beitragende*r), University of Groningen, Wheeler, Eleanor [0000-0002-8616-6444], Barnes, Daniel [0000-0002-3781-7570], Luan, Jian'an [0000-0003-3137-6337], Johnson, Kathleen [0000-0002-6823-3252], Danesh, John [0000-0003-1158-6791], Wareham, Nicholas [0000-0003-1422-2993], Barroso, Ines [0000-0001-5800-4520], Langenberg, Claudia [0000-0002-5017-7344], and Apollo - University of Cambridge Repository
Subjects: Male, Netherlands Twin Register (NTR), endocrine system diseases, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Medizin, Genome-wide association study, Type 2 diabetes, CORONARY HEART-DISEASE, Fasting/blood, 0302 clinical medicine, Insulin, Glucose homeostasis, ddc:576.5, Genome-wide, Diabetes Mellitus, Type 2/blood/genetics/metabolism, CARDIoGRAM Consortium, POPULATION, Proinsulin, RISK, Genetics, 0303 health sciences, INSULIN SENSITIVITY, 11 Medical And Health Sciences, Fasting, Polymorphism, Single Nucleotide/genetics, OBESITY, Female, type 2 diabetes, Life Sciences & Biomedicine, hormones, hormone substitutes, and hormone antagonists, Insulin processing, Adult, medicine.medical_specialty, endocrine system, ENDOCRINOLOGY & METABOLISM, SUSCEPTIBILITY LOCI, Genotype, 030209 endocrinology & metabolism, DIAGRAM Consortium, Biology, C4D Consortium, Polymorphism, Single Nucleotide, Molecular epidemiology [NCEBP 1], 03 medical and health sciences, Insulin resistance, BETA-CELL FUNCTION, SDG 3 - Good Health and Well-being, Internal medicine, GIANT Consortium, Internal Medicine, medicine, Humans, METAANALYSIS, 030304 developmental biology, Science & Technology, Genome, Human, Hormonal regulation [IGMD 6], Genetic Variation, nutritional and metabolic diseases, proinsulin, medicine.disease, Proinsulin/blood, TCF7L2, Endocrinology, Diabetes Mellitus, Type 2, MuTHER Consortium, GLUCOSE-HOMEOSTASIS, Insulin/blood
Abstract: OBJECTIVE Proinsulin is a precursor of mature insulin and C-peptide. Higher circulating proinsulin levels are associated with impaired β-cell function, raised glucose levels, insulin resistance, and type 2 diabetes (T2D). Studies of the insulin processing pathway could provide new insights about T2D pathophysiology. RESEARCH DESIGN AND METHODS We have conducted a meta-analysis of genome-wide association tests of ∼2.5 million genotyped or imputed single nucleotide polymorphisms (SNPs) and fasting proinsulin levels in 10,701 nondiabetic adults of European ancestry, with follow-up of 23 loci in up to 16,378 individuals, using additive genetic models adjusted for age, sex, fasting insulin, and study-specific covariates. RESULTS Nine SNPs at eight loci were associated with proinsulin levels (P < 5 × 10−8). Two loci (LARP6 and SGSM2) have not been previously related to metabolic traits, one (MADD) has been associated with fasting glucose, one (PCSK1) has been implicated in obesity, and four (TCF7L2, SLC30A8, VPS13C/C2CD4A/B, and ARAP1, formerly CENTD2) increase T2D risk. The proinsulin-raising allele of ARAP1 was associated with a lower fasting glucose (P = 1.7 × 10−4), improved β-cell function (P = 1.1 × 10−5), and lower risk of T2D (odds ratio 0.88; P = 7.8 × 10−6). Notably, PCSK1 encodes the protein prohormone convertase 1/3, the first enzyme in the insulin processing pathway. A genotype score composed of the nine proinsulin-raising alleles was not associated with coronary disease in two large case-control datasets. CONCLUSIONS We have identified nine genetic variants associated with fasting proinsulin. Our findings illuminate the biology underlying glucose homeostasis and T2D development in humans and argue against a direct role of proinsulin in coronary artery disease pathogenesis.
Published: 2011

37. Radiologische Determinierung des “lateral femoral notch sign” bei vorderer Kreuzbandruptur mittels Nativröntgen und MRT

Author: Hoffelner, Thomas, primary, Pichler, I., additional, Moroder, P., additional, Hudelmaier, M., additional, Wirth, W., additional, Osti, M., additional, and Auffarth, A., additional
Published: 2015
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38. Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk (Nature Genetics (2010) 42 (105-116))

Author: Dupuis, J, Langenberg, C, Prokopenko, I, Saxena, R, Soranzo, N, Jackson, AU, Wheeler, E, Glazer, NL, Bouatia-Naji, N, Gloyn, AL, Lindgren, CM, Mägi, R, Morris, AP, Randall, J, Johnson, T, Elliott, P, Rybin, D, Thorleifsson, G, Steinthorsdottir, V, Henneman, P, Grallert, H, Dehghan, A, Hottenga, JJ, Franklin, CS, Navarro, P, Song, K, Goel, A, Perry, JRB, Egan, JM, Lajunen, T, Grarup, N, Sparsø, T, Doney, A, Voight, BF, Stringham, HM, Li, M, Kanoni, S, Shrader, P, Cavalcanti-Proença, C, Kumari, M, Qi, L, Timpson, NJ, Gieger, C, Zabena, C, Rocheleau, G, Ingelsson, E, An, P, O'Connell, J, Luan, J, Elliott, A, McCarroll, SA, Payne, F, Roccasecca, RM, Pattou, F, Sethupathy, P, Ardlie, K, Ariyurek, Y, Balkau, B, Barter, P, Beilby, JP, Ben-Shlomo, Y, Benediktsson, R, Bennett, AJ, Bergmann, S, Bochud, M, Boerwinkle, E, Bonnefond, A, Bonnycastle, LL, Borch-Johnsen, K, Böttcher, Y, Brunner, E, Bumpstead, SJ, Charpentier, G, Chen, Y-DI, Chines, P, Clarke, R, Coin, LJM, Cooper, MN, Cornelis, M, Crawford, G, Crisponi, L, Day, INM, De Geus, EJC, Delplanque, J, Dina, C, Erdos, MR, Fedson, AC, Fischer-Rosinsky, A, Forouhi, NG, Fox, CS, Frants, R, Franzosi, MG, Galan, P, Goodarzi, MO, Graessler, J, Groves, CJ, Grundy, S, Gwilliam, R, Gyllensten, U, Hadjadj, S, Hallmans, G, Hammond, N, Han, X, Hartikainen, A-L, Hassanali, N, Hayward, C, Heath, SC, Hercberg, S, Herder, C, Hicks, AA, Hillman, DR, Hingorani, AD, Hofman, A, Hui, J, Hung, J, Isomaa, B, Johnson, PRV, Jørgensen, T, Jula, A, Kaakinen, M, Kaprio, J, Kesaniemi, YA, Kivimaki, M, Knight, B, Koskinen, S, Kovacs, P, Kyvik, KO, Lathrop, GM, Lawlor, DA, Le Bacquer, O, Lecoeur, C, Li, Y, Lyssenko, V, Mahley, R, Mangino, M, Manning, AK, Martínez-Larrad, MT, McAteer, JB, McCulloch, LJ, McPherson, R, Meisinger, C, Melzer, D, Meyre, D, Mitchell, BD, Morken, MA, Mukherjee, S, Naitza, S, Narisu, N, Neville, MJ, Oostra, BA, Orr, M, Pakyz, R, Palmer, CNA, Paolisso, G, Pattaro, C, Pearson, D, Peden, JF, Pedersen, NL, Perola, M, Pfeiffer, AFH, Pichler, I, Polasek, O, Posthuma, D, Potter, SC, Pouta, A, Province, MA, Psaty, BM, Rathmann, W, Rayner, NW, Rice, K, Ripatti, S, Rivadeneira, F, Roden, M, Rolandsson, O, Sandbaek, A, Sandhu, M, Sanna, S, Sayer, AA, Scheet, P, Scott, LJ, Seedorf, U, Sharp, SJ, Shields, B, Sigursson, G, Sijbrands, EJG, Silveira, A, Simpson, L, Singleton, A, Smith, NL, Sovio, U, Swift, A, Syddall, H, Syvänen, A-C, Tanaka, T, Thorand, B, Tichet, J, Tönjes, A, Tuomi, T, Uitterlinden, AG, Van Dijk, KW, Van Hoek, M, Varma, D, Visvikis-Siest, S, Vitart, V, Vogelzangs, N, Waeber, G, Wagner, PJ, Walley, A, Walters, GB, Ward, KL, Watkins, H, Weedon, MN, Wild, SH, Willemsen, G, Witteman, JCM, Yarnell, JWG, Zeggini, E, Zelenika, D, Zethelius, B, Zhai, G, Zhao, JH, Zillikens, MC, Consortium, D, Consortium, G, Consortium, GB, Borecki, IB, Loos, RJF, Meneton, P, Magnusson, PKE, Nathan, DM, Williams, GH, Hattersley, AT, Silander, K, Salomaa, V, Smith, GD, Bornstein, SR, Schwarz, P, Spranger, J, Karpe, F, Shuldiner, AR, Cooper, C, Dedoussis, GV, Serrano-Ríos, M, Morris, AD, Lind, L, Palmer, LJ, Hu, FB, Franks, PW, Ebrahim, S, Marmot, M, Kao, WHL, Pankow, JS, Sampson, MJ, Kuusisto, J, Laakso, M, Hansen, T, Pedersen, O, Pramstaller, PP, Wichmann, HE, Illig, T, Rudan, I, Wright, AF, Stumvoll, M, Campbell, H, Wilson, JF, Hamsten, A, Bergman, RN, Buchanan, TA, Collins, FS, Mohlke, KL, Tuomilehto, J, Valle, TT, Altshuler, D, Rotter, JI, Siscovick, DS, Penninx, BWJH, Boomsma, DI, Deloukas, P, Spector, TD, Frayling, TM, Ferrucci, L, Kong, A, Thorsteinsdottir, U, Stefansson, K, Van Duijn, CM, Aulchenko, YS, Cao, A, Scuteri, A, Schlessinger, D, Uda, M, Ruokonen, A, Jarvelin, M-R, Waterworth, DM, Vollenweider, P, Peltonen, L, Mooser, V, Abecasis, GR, Wareham, NJ, Sladek, R, Froguel, P, Watanabe, RM, Meigs, JB, Groop, L, Boehnke, M, McCarthy, MI, Florez, JC, and Barroso, I
Published: 2010

39. New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk (vol 42, pg 105, 2010)

Author: Dupuis, J, Langenberg, C, Prokopenko, I, Saxena, R, Soranzo, N, Jackson, AU, Wheeler, E, Glazer, NL, Bouatia-Naji, N, Gloyn, AL, Lindgren, CM, Maegi, R, Morris, AP, Randall, J, Johnson, T, Elliott, P, Rybin, D, Thorleifsson, G, Steinthorsdottir, V, Henneman, P, Grallert, H, Dehghan, A, Hottenga, JJ, Franklin, CS, Navarro, P, Song, K, Goel, A, Perry, JRB, Egan, JM, Lajunen, T, Grarup, N, Sparso, T, Doney, A, Voight, BF, Stringham, HM, Li, M, Kanoni, S, Shrader, P, Cavalcanti-Proenca, C, Kumari, M, Qi, L, Timpson, NJ, Gieger, C, Zabena, C, Rocheleau, G, Ingelsson, E, An, P, O'Connell, J, Luan, J, Elliott, A, McCarroll, SA, Payne, F, Roccasecca, RM, Pattou, F, Sethupathy, P, Ardlie, K, Ariyurek, Y, Balkau, B, Barter, P, Beilby, JP, Ben-Shlomo, Y, Benediktsson, R, Bennett, AJ, Bergmann, S, Bochud, M, Boerwinkle, E, Bonnefond, A, Bonnycastle, LL, Borch-Johnsen, K, Boettcher, Y, Brunner, E, Bumpstead, SJ, Charpentier, G, Chen, Y-DI, Chines, P, Clarke, R, Coin, LJM, Cooper, MN, Cornelis, M, Crawford, G, Crisponi, L, Day, INM, de Geus, EJC, Delplanque, J, Dina, C, Erdos, MR, Fedson, AC, Fischer-Rosinsky, A, Forouhi, NG, Fox, CS, Frants, R, Franzosi, MG, Galan, P, Goodarzi, MO, Graessler, J, Groves, CJ, Grundy, S, Gwilliam, R, Gyllensten, U, Hadjadj, S, Hallmans, G, Hammond, N, Han, X, Hartikainen, A-L, Hassanali, N, Hayward, C, Heath, SC, Hercberg, S, Herder, C, Hicks, AA, Hillman, DR, Hingorani, AD, Hofman, A, Hui, J, Hung, J, Isomaa, B, Johnson, PRV, Jorgensen, T, Jula, A, Kaakinen, M, Kaprio, J, Kesaniemi, YA, Kivimaki, M, Knight, B, Koskinen, S, Kovacs, P, Kyvik, KO, Lathrop, GM, Lawlor, DA, Le Bacquer, O, Lecoeur, C, Li, Y, Lyssenko, V, Mahley, R, Mangino, M, Manning, AK, Martinez-Larrad, MT, McAteer, JB, McCulloch, LJ, McPherson, R, Meisinger, C, Melzer, D, Meyre, D, Mitchell, BD, Morken, MA, Mukherjee, S, Naitza, S, Narisu, N, Neville, MJ, Oostra, BA, Orru, M, Pakyz, R, Palmer, CNA, Paolisso, G, Pattaro, C, Pearson, D, Peden, JF, Pedersen, NL, Perola, M, Pfeiffer, AFH, Pichler, I, Polasek, O, Posthuma, D, Potter, SC, Pouta, A, Province, MA, Psaty, BM, Rathmann, W, Rayner, NW, Rice, K, Ripatti, S, Rivadeneira, F, Roden, M, Rolandsson, O, Sandbaek, A, Sandhu, M, Sanna, S, Sayer, AA, Scheet, P, Scott, LJ, Seedorf, U, Sharp, SJ, Shields, B, Sigurosson, G, Sijbrands, EJG, Silveira, A, Simpson, L, Singleton, A, Smith, NL, Sovio, U, Swift, A, Syddall, H, Syvaenen, A-C, Tanaka, T, Thorand, B, Tichet, J, Toenjes, A, Tuomi, T, Uitterlinden, AG, van Dijk, KW, van Hoek, M, Varma, D, Visvikis-Siest, S, Vitart, V, Vogelzangs, N, Waeber, G, Wagner, PJ, Walley, A, Walters, GB, Ward, KL, Watkins, H, Weedon, MN, Wild, SH, Willemsen, G, Witteman, JCM, Yarnell, JWG, Zeggini, E, Zelenika, D, Zethelius, B, Zhai, G, Zhao, JH, Zillikens, MC, Borecki, IB, Loos, RJF, Meneton, P, Magnusson, PKE, Nathan, DM, Williams, GH, Hattersley, AT, Silander, K, Salomaa, V, Smith, GD, Bornstein, SR, Schwarz, P, Spranger, J, Karpe, F, Shuldiner, AR, Cooper, C, Dedoussis, GV, Serrano-Rios, M, Morris, AD, Lind, L, Palmer, LJ, Hu, FB, Franks, PW, Ebrahim, S, Marmot, M, Kao, WHL, Pankow, JS, Sampson, MJ, Kuusisto, J, Laakso, M, Hansen, T, Pedersen, O, Pramstaller, PP, Wichmann, HE, Illig, T, Rudan, I, Wright, AF, Stumvoll, M, Campbell, H, Wilson, JF, Hamsten, A, Bergman, RN, Buchanan, TA, Collins, FS, Mohlke, KL, Tuomilehto, J, Valle, TT, Altshuler, D, Rotter, JI, Siscovick, DS, Penninx, BWJH, Boomsma, DI, Deloukas, P, Spector, TD, Frayling, TM, Ferrucci, L, Kong, A, Thorsteinsdottir, U, Stefansson, K, van Duijn, CM, Aulchenko, YS, Cao, A, Scuteri, A, Schlessinger, D, Uda, M, Ruokonen, A, Jarvelin, M-R, Waterworth, DM, Vollenweider, P, Peltonen, L, Mooser, V, Abecasis, GR, Wareham, NJ, Sladek, R, Froguel, P, Watanabe, RM, Meigs, JB, Groop, L, Boehnke, M, McCarthy, MI, Florez, JC, Consortium, DIAGRAM, Consortium, GIANT, Consortium, GB, Consortium, P, and Investigators, IBMAGIC
Published: 2010

40. Overexpression of blood microRNAs 103a, 30b, and 29a in L-dopa-treated patients with PD

Author: Serafin, A., primary, Foco, L., additional, Zanigni, S., additional, Blankenburg, H., additional, Picard, A., additional, Zanon, A., additional, Giannini, G., additional, Pichler, I., additional, Facheris, M. F., additional, Cortelli, P., additional, Pramstaller, P. P., additional, Hicks, A. A., additional, Domingues, F. S., additional, and Schwienbacher, C., additional
Published: 2015
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41. TANDEM AFFINITY PURIFICATION AND MASS SPECTROMETRY FOR THE ISOLATION OF PROTEIN COMPLEXDES FROM CYTOSOLIC AND MITOCHONDRIAL FRACTIONS OF MAMMALIAN CELLS

Author: Zanon, A., Schwienbacher, Christine, Hicks, A. A., Klein, C., Pramstaller, P. P., Pichler, I., and Rakovic, A.
Published: 2010

42. NOVEL ASSOCIATION TO THE PROPROTEIN CONVERTASE PCSK7 ALONGSIDE HFE AND TMPRSS6 GENE LOCI REVEALED BY ANALYSING SOLUBLE TRANSFERRIN RECEPTOR LEVELS

Author: Ried, J. S., Oexle, K., Hicks, A. A., Tanaka, T., Hayward, C., Bruegel, M., Gögele, M., Lichtner, P., Müller Myhsok, B., Döring, A., Illig, T., Schwienbacher, Christine, Minelli, C., Pichler, I., Fiedler, G. M., Thiery, J., Rudan, I., Ferrucci, L., Bandinelli, S., Pramstaller, P. P., Wichmann, H. E., Gieger, C., Winkelmann, J., and Meitinger, T.
Published: 2010

43. Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

Author: Benyamin, B., Esko, T., Ried, J.S., Radhakrishnan, A., Vermeulen, S., Traglia, M., Gogele, M., Anderson, D., Broer, L., Podmore, C., Luan, J., Kutalik, Z., Sanna, S., Meer, P. van der, Tanaka, T., Wang, F, Westra, H.J., Franke, L., Mihailov, E., Milani, L., Haldin, J., Winkelmann, J., Meitinger, T., Thiery, J., Peters, A., Waldenberger, M., Rendon, A., Jolley, J., Sambrook, J., Kiemeney, L.A.L.M., Sweep, C.G.J., Sala, C.F., Schwienbacher, C., Pichler, I., Hui, J., Demirkan, A., Isaacs, A., Amin, N., Steri, M., Waeber, G., Verweij, N., Powell, J.E., Nyholt, D.R., Heath, A.C., Madden, P.A.F., Visscher, P.M., Wright, M.J., Montgomery, G.W., Martin, N.G., Hernandez, D., Bandinelli, S., Harst, P. van der, Uda, M., Vollenweider, P., Scott, R.A., Langenberg, C., Wareham, N.J., InterAct, C., Duijn, C. van, Beilby, J., Pramstaller, P.P., Hicks, A.A., Ouwehand, W.H., Oexle, K., Gieger, C., Metspalu, A., Camaschella, C., Toniolo, D., Swinkels, D.W., Whitfield, J.B., Benyamin, B., Esko, T., Ried, J.S., Radhakrishnan, A., Vermeulen, S., Traglia, M., Gogele, M., Anderson, D., Broer, L., Podmore, C., Luan, J., Kutalik, Z., Sanna, S., Meer, P. van der, Tanaka, T., Wang, F, Westra, H.J., Franke, L., Mihailov, E., Milani, L., Haldin, J., Winkelmann, J., Meitinger, T., Thiery, J., Peters, A., Waldenberger, M., Rendon, A., Jolley, J., Sambrook, J., Kiemeney, L.A.L.M., Sweep, C.G.J., Sala, C.F., Schwienbacher, C., Pichler, I., Hui, J., Demirkan, A., Isaacs, A., Amin, N., Steri, M., Waeber, G., Verweij, N., Powell, J.E., Nyholt, D.R., Heath, A.C., Madden, P.A.F., Visscher, P.M., Wright, M.J., Montgomery, G.W., Martin, N.G., Hernandez, D., Bandinelli, S., Harst, P. van der, Uda, M., Vollenweider, P., Scott, R.A., Langenberg, C., Wareham, N.J., InterAct, C., Duijn, C. van, Beilby, J., Pramstaller, P.P., Hicks, A.A., Ouwehand, W.H., Oexle, K., Gieger, C., Metspalu, A., Camaschella, C., Toniolo, D., Swinkels, D.W., and Whitfield, J.B.
Abstract: Contains fulltext : 137523.pdf (publisher's version ) (Open Access), Variation in body iron is associated with or causes diseases, including anaemia and iron overload. Here, we analyse genetic association data on biochemical markers of iron status from 11 European-population studies, with replication in eight additional cohorts (total up to 48,972 subjects). We find 11 genome-wide-significant (P<5 x 10(-8)) loci, some including known iron-related genes (HFE, SLC40A1, TF, TFR2, TFRC, TMPRSS6) and others novel (ABO, ARNTL, FADS2, NAT2, TEX14). SNPs at ARNTL, TF, and TFR2 affect iron markers in HFE C282Y homozygotes at risk for hemochromatosis. There is substantial overlap between our iron loci and loci affecting erythrocyte and lipid phenotypes. These results will facilitate investigation of the roles of iron in disease.
Published: 2014

44. Frontotemporal dementia and its subtypes: A genome-wide association study

Author: Ferrari, R. (Roberto), Hernandez, D.G. (Dena), Nalls, M.A. (Michael), Rohrer, J.D. (Jonathan), Ramasamy, A. (Adaikalavan), Kwok, J.B.J. (John), Dobson-Stone, C. (Carol), Brooks, W.S. (William), Schofield, C.J. (Christopher), Halliday, G.M. (Glenda Margaret), Hodges, J. (John), Piguet, O. (Olivier), Bartley, L. (Lauren), Thompson, E. (Elizabeth), Haan, E. (Eric), Hernández, I. (Isabel), Ruiz, A. (Agustin), Boada, M. (Mercè), Borroni, B. (Barbara), Padovani, A. (Alessandro), Cruchaga, C. (Carlos), Cairns, N.J. (Nigel), Benussi, L. (Luisa), Binetti, G. (Giuliano), Ghidoni, R. (Roberta), Forloni, G. (Gianluigi), Galimberti, D. (Daniela), Fenoglio, C. (Chiara), Serpente, M. (Maria), Scarpini, E. (Elio), Clarimon, J. (Jordi), Lleo, A. (Alberto), Blesa, R. (Rafael), Waldö, M.L. (Maria Landqvist), Nilsson, K. (Karin), Nilsson, C. (Christer), Mackenzie, I.R.A. (Ian), Hsiung, G.Y.R. (Ging-Yuek), Mann, D.M.A. (David), Grafman, J. (Jordan), Morris, C.M. (Chris), Attems, J. (Johannes), Griffiths, T.D. (Timothy), McKeith, I.G. (Ian), Thomas, A.W. (Alan), Pietrini, P. (P.), Huey, E.D. (Edward), Wassermann, E.M. (Eric), Baborie, A. (Atik), Jaros, J.A.J. (Julian), Tierney, M.C. (Michael), Pastor, P. (Pau), Razquin, C. (Cristina), Ortega-Cubero, S. (Sara), Alonso, E. (Elena), Perneczky, R. (Robert), Diehl-Schmid, J. (Janine), Alexopoulos, E.C. (Evangelos), Kurz, A., Rainero, I. (Innocenzo), Rubino, M. (Maurizio), Pinessi, L. (Lorenzo), Rogaeva, E. (Ekaterina), St George-Hyslop, P.H. (Peter), Rossi, G. (Giulio) de, Tagliavini, F. (Fabrizio), Giaccone, G. (Giuseppe), Rowe, J.B. (James), Schlachetzki, J.C.M. (Johannes C.), Uphill, J. (James), Collinge, J. (John), Mead, S. (Simon), Danek, A. (Adrian), Deerlin, V.M. (Vivianna), Grossman, M. (Murray), Trojanowski, J.Q. (John), Zee, J. (Jill) van der, Deschamps, J. (Jacqueline), Langenhove, T. (Tim) van, Cruts, M. (Marc), Broeckhoven, C. (Christine) van, Cappa, S.F. (Stefano), Le Ber, I. (Isabelle), Hannequin, D. (Didier), Golfier, V. (Véronique), Vercelletto, M. (Martine), Brice, A., Nacmias, B. (Benedetta), Sorbi, S. (Sandro), Bagnoli, S. (Silvia), Piaceri, I. (Irene), Nielsen, J.E. (Jorgen), Hjermind, L.E. (Lena), Riemenschneider, M. (Matthias), Mayhaus, M. (Manuel), Ibach, B. (Bernd), Gasparoni, G. (Gilles), Pichler, I. (Irene), Gu, W. (Wei), Rossor, M. (Martin), Fox, N.C. (Nick), Warren, J.D. (Jason), Spillantini, M.G., Morris, H. (Huw), Rizzu, P. (Patrizia), Heutink, P. (Peter), Snowden, J. (Julie), Rollinson, S. (Sara), Richardson, A. (Anna), Gerhard, A. (Alex), Bruni, A.C. (Amalia), Maletta, R. (Raffaele), Frangipane, F. (Francesca), Cupidi, C. (Chiara), Bernardi, L. (Livia), Anfossi, M. (Maria), Gallo, V. (Valentina), Conidi, A. (Andrea), Smirne, N. (Nicoletta), Rademakers, S. (Suzanne), Baker, M.C. (Matthew), Dickson, D.W. (Dennis), Graff-Radford, N.R. (Neill), Petersen, R.C. (Ronald), Knopman, D.S. (David), Josephs, K.A. (Keith), Boeve, B.F. (Bradley), Parisi, J.E. (Joseph), Seeley, W. (William), Miller, B.L. (Bruce Lars), Karydas, A. (Anna), Rosen, H. (Howard), Swieten, J.C. (John) van, Dopper, E.G.P. (Elise), Seelaar, H. (Harro), Pijnenburg, Y.A.L. (Yolande), Scheltens, P. (Philip), Logroscino, G. (Giancarlo), Capozzo, R. (Rosa), Novelli, V. (Valeria), Puca, A.A. (Annibale), Franceschi, C. (Claudio), Postiglione, A. (Alfredo), Milan, D.J. (David), Sorrentino, D. (Dario), Kristiansen, M. (Mark), Chiang, Y.T., Graff, M.J. (Maud J.L.), Pasquier, F. (Florence), Rollin, P.E. (Pierre), Deramecourt, V. (Vincent), Lebert, F. (Florence), Kapogiannis, D. (Dimitrios), Ferrucci, L. (Luigi), Pickering-Brown, S. (Stuart), Singleton, A. (Andrew), Hardy, J. (John), Momeni, M. (Mona), Ferrari, R. (Roberto), Hernandez, D.G. (Dena), Nalls, M.A. (Michael), Rohrer, J.D. (Jonathan), Ramasamy, A. (Adaikalavan), Kwok, J.B.J. (John), Dobson-Stone, C. (Carol), Brooks, W.S. (William), Schofield, C.J. (Christopher), Halliday, G.M. (Glenda Margaret), Hodges, J. (John), Piguet, O. (Olivier), Bartley, L. (Lauren), Thompson, E. (Elizabeth), Haan, E. (Eric), Hernández, I. (Isabel), Ruiz, A. (Agustin), Boada, M. (Mercè), Borroni, B. (Barbara), Padovani, A. (Alessandro), Cruchaga, C. (Carlos), Cairns, N.J. (Nigel), Benussi, L. (Luisa), Binetti, G. (Giuliano), Ghidoni, R. (Roberta), Forloni, G. (Gianluigi), Galimberti, D. (Daniela), Fenoglio, C. (Chiara), Serpente, M. (Maria), Scarpini, E. (Elio), Clarimon, J. (Jordi), Lleo, A. (Alberto), Blesa, R. (Rafael), Waldö, M.L. (Maria Landqvist), Nilsson, K. (Karin), Nilsson, C. (Christer), Mackenzie, I.R.A. (Ian), Hsiung, G.Y.R. (Ging-Yuek), Mann, D.M.A. (David), Grafman, J. (Jordan), Morris, C.M. (Chris), Attems, J. (Johannes), Griffiths, T.D. (Timothy), McKeith, I.G. (Ian), Thomas, A.W. (Alan), Pietrini, P. (P.), Huey, E.D. (Edward), Wassermann, E.M. (Eric), Baborie, A. (Atik), Jaros, J.A.J. (Julian), Tierney, M.C. (Michael), Pastor, P. (Pau), Razquin, C. (Cristina), Ortega-Cubero, S. (Sara), Alonso, E. (Elena), Perneczky, R. (Robert), Diehl-Schmid, J. (Janine), Alexopoulos, E.C. (Evangelos), Kurz, A., Rainero, I. (Innocenzo), Rubino, M. (Maurizio), Pinessi, L. (Lorenzo), Rogaeva, E. (Ekaterina), St George-Hyslop, P.H. (Peter), Rossi, G. (Giulio) de, Tagliavini, F. (Fabrizio), Giaccone, G. (Giuseppe), Rowe, J.B. (James), Schlachetzki, J.C.M. (Johannes C.), Uphill, J. (James), Collinge, J. (John), Mead, S. (Simon), Danek, A. (Adrian), Deerlin, V.M. (Vivianna), Grossman, M. (Murray), Trojanowski, J.Q. (John), Zee, J. (Jill) van der, Deschamps, J. (Jacqueline), Langenhove, T. (Tim) van, Cruts, M. (Marc), Broeckhoven, C. (Christine) van, Cappa, S.F. (Stefano), Le Ber, I. (Isabelle), Hannequin, D. (Didier), Golfier, V. (Véronique), Vercelletto, M. (Martine), Brice, A., Nacmias, B. (Benedetta), Sorbi, S. (Sandro), Bagnoli, S. (Silvia), Piaceri, I. (Irene), Nielsen, J.E. (Jorgen), Hjermind, L.E. (Lena), Riemenschneider, M. (Matthias), Mayhaus, M. (Manuel), Ibach, B. (Bernd), Gasparoni, G. (Gilles), Pichler, I. (Irene), Gu, W. (Wei), Rossor, M. (Martin), Fox, N.C. (Nick), Warren, J.D. (Jason), Spillantini, M.G., Morris, H. (Huw), Rizzu, P. (Patrizia), Heutink, P. (Peter), Snowden, J. (Julie), Rollinson, S. (Sara), Richardson, A. (Anna), Gerhard, A. (Alex), Bruni, A.C. (Amalia), Maletta, R. (Raffaele), Frangipane, F. (Francesca), Cupidi, C. (Chiara), Bernardi, L. (Livia), Anfossi, M. (Maria), Gallo, V. (Valentina), Conidi, A. (Andrea), Smirne, N. (Nicoletta), Rademakers, S. (Suzanne), Baker, M.C. (Matthew), Dickson, D.W. (Dennis), Graff-Radford, N.R. (Neill), Petersen, R.C. (Ronald), Knopman, D.S. (David), Josephs, K.A. (Keith), Boeve, B.F. (Bradley), Parisi, J.E. (Joseph), Seeley, W. (William), Miller, B.L. (Bruce Lars), Karydas, A. (Anna), Rosen, H. (Howard), Swieten, J.C. (John) van, Dopper, E.G.P. (Elise), Seelaar, H. (Harro), Pijnenburg, Y.A.L. (Yolande), Scheltens, P. (Philip), Logroscino, G. (Giancarlo), Capozzo, R. (Rosa), Novelli, V. (Valeria), Puca, A.A. (Annibale), Franceschi, C. (Claudio), Postiglione, A. (Alfredo), Milan, D.J. (David), Sorrentino, D. (Dario), Kristiansen, M. (Mark), Chiang, Y.T., Graff, M.J. (Maud J.L.), Pasquier, F. (Florence), Rollin, P.E. (Pierre), Deramecourt, V. (Vincent), Lebert, F. (Florence), Kapogiannis, D. (Dimitrios), Ferrucci, L. (Luigi), Pickering-Brown, S. (Stuart), Singleton, A. (Andrew), Hardy, J. (John), and Momeni, M. (Mona)
Abstract: Background: Frontotemporal dementia (FTD) is a complex disorder characterised by a broad range of clinical manifestations, differential pathological signatures, and genetic variability. Mutations in three genes-MAPT, GRN, and C9orf72-have been associated with FTD. We sought to identify novel genetic risk loci associated with the disorder. Methods: We did a two-stage genome-wide association study on clinical FTD, analysing samples from 3526 patients with FTD and 9402 h
Published: 2014
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45. Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

Author: Benyamin, B. (Beben), Esko, T. (Tõnu), Ried, J.S. (Janina), Radhakrishnan, A. (Aparna), Vermeulen, S.H.H.M. (Sita), Traglia, M. (Michela), Gögele, M. (Martin), Anderson, D. (Denise), Broer, L. (Linda), Podmore, C. (Clara), Luan, J., Kutalik, Z. (Zoltán), Sanna, S. (Serena), Meer, P. (Peter) van der, Tanaka, T. (Toshiko), Wang, F. (Fudi), Westra, H.J. (Harm-Jan), Franke, L. (Lude), Mihailov, E. (Evelin), Milani, L. (Lili), Häldin, J. (Jonas), Winkelmann, B., Meitinger, T. (Thomas), Thiery, J. (Joachim), Peters, A. (Annette), Waldenberger, M. (Melanie), Rendon, A. (Augusto), Jolley, G.J. (Jason), Sambrook, J.G. (Jennifer), Kiemeney, L.A.L.M. (Bart), Sweep, F.C. (Fred), Sala, C. (Cinzia), Schwienbacher, C. (Christine), Pichler, I. (Irene), Hui, J. (Jennie), Demirkan, A. (Ayşe), Isaacs, A. (Aaron), Amin, N. (Najaf), Steri, M. (Maristella), Waeber, G. (Gérard), Verweij, N. (Niek), Powell, J.E. (Joseph), Dimas, A.S. (Antigone), Heath, A.C. (Andrew), Madden, P.A. (Pamela), Visscher, P.M. (Peter), Wright, M.J. (Margaret), Montgomery, G.W. (Grant), Martin, N.G. (Nicholas), Hernandez, D.G. (Dena), Bandinelli, S. (Stefania), Harst, P. (Pim) van der, Uda, M. (Manuela), Vollenweider, P. (Peter), Scott, R.A. (Robert), Langenberg, C. (Claudia), Wareham, N.J. (Nick), Duijn, C.M. (Cornelia) van, Beilby, J. (John), Pramstaller, P.P. (Peter Paul), Hicks, A.A. (Andrew), Ouwehand, W.H. (Willem), Oexle, K. (Konrad), Gieger, C. (Christian), Metspalu, A. (Andres), Camaschella, C. (Clara), Toniolo, D. (Daniela), Swinkels, D.W. (Dorine), Whitfield, J. (John), Benyamin, B. (Beben), Esko, T. (Tõnu), Ried, J.S. (Janina), Radhakrishnan, A. (Aparna), Vermeulen, S.H.H.M. (Sita), Traglia, M. (Michela), Gögele, M. (Martin), Anderson, D. (Denise), Broer, L. (Linda), Podmore, C. (Clara), Luan, J., Kutalik, Z. (Zoltán), Sanna, S. (Serena), Meer, P. (Peter) van der, Tanaka, T. (Toshiko), Wang, F. (Fudi), Westra, H.J. (Harm-Jan), Franke, L. (Lude), Mihailov, E. (Evelin), Milani, L. (Lili), Häldin, J. (Jonas), Winkelmann, B., Meitinger, T. (Thomas), Thiery, J. (Joachim), Peters, A. (Annette), Waldenberger, M. (Melanie), Rendon, A. (Augusto), Jolley, G.J. (Jason), Sambrook, J.G. (Jennifer), Kiemeney, L.A.L.M. (Bart), Sweep, F.C. (Fred), Sala, C. (Cinzia), Schwienbacher, C. (Christine), Pichler, I. (Irene), Hui, J. (Jennie), Demirkan, A. (Ayşe), Isaacs, A. (Aaron), Amin, N. (Najaf), Steri, M. (Maristella), Waeber, G. (Gérard), Verweij, N. (Niek), Powell, J.E. (Joseph), Dimas, A.S. (Antigone), Heath, A.C. (Andrew), Madden, P.A. (Pamela), Visscher, P.M. (Peter), Wright, M.J. (Margaret), Montgomery, G.W. (Grant), Martin, N.G. (Nicholas), Hernandez, D.G. (Dena), Bandinelli, S. (Stefania), Harst, P. (Pim) van der, Uda, M. (Manuela), Vollenweider, P. (Peter), Scott, R.A. (Robert), Langenberg, C. (Claudia), Wareham, N.J. (Nick), Duijn, C.M. (Cornelia) van, Beilby, J. (John), Pramstaller, P.P. (Peter Paul), Hicks, A.A. (Andrew), Ouwehand, W.H. (Willem), Oexle, K. (Konrad), Gieger, C. (Christian), Metspalu, A. (Andres), Camaschella, C. (Clara), Toniolo, D. (Daniela), Swinkels, D.W. (Dorine), and Whitfield, J. (John)
Abstract: Variation in body iron is associated with or causes diseases, including anaemia and iron overload. Here, we analyse genetic association data on biochemical markers of iron status from 11 European-population studies, with replication in eight additional cohorts (total up to 48,972 subjects). We find 11 genome-wide-significant (P<5 × 10-8) loci, some including known iron-related genes (HFE, SLC40A1, TF, TFR2, TFRC, TMPRSS6) and others novel (ABO, ARNTL, FADS2, NAT2, TEX14). SNPs at ARNTL, TF, and TFR2 affect iron markers in HFE C282Y homozygotes at risk for hemochromatosis. There is substantial overlap between our iron loci and loci affecting erythrocyte and lipid phenotypes. These results will facilitate investigation of the roles of iron in disease.
Published: 2014
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46. Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease

Author: Escott-Price, V. (Valentina), Bellenguez, C. (Céline), Wang, L.S. (Li-San), Choi, S.-H. (Seung-Hoan), Harold, D. (Denise), Jones, L. (Louisa), Holmans, P.A. (Peter), Gerrish, A. (Amy), Vedernikov, A. (Alexey), Richards, A. (Alex), DeStefano, A.L. (Anita), Lambert, J.-C. (J.), Ibrahim-Verbaas, C.A. (Carla), Naj, A.C. (Adam), Sims, R. (Rebecca), Jun, Y. (Yang), Bis, J.C. (Joshua), Beecham, G.W. (Gary), Grenier-Boley, B. (Benjamin), Russo, G. (Giancarlo), Thornton-Wells, T.A. (Tricia), Denning, N. (Nicola), Smith, A.V. (Davey), Chouraki, V. (Vincent), Thomas, C. (Charlene), Ikram, M.A. (Arfan), Zelenika, D. (Diana), Vardarajan, B.N. (Badri), Kamatani, Y. (Yoichiro), Lin, C.-F. (Chiao-Feng), Schmidt, R. (Reinhold), Kunkle, B. (Brian), Dunstan, M.L. (Melanie), Vronskaya, M. (Maria), Johnson, A.D. (Andrew), Ruiz, A. (Agustin), Bihoreau, M.-T. (Marie-Thérèse), Reitz, C. (Christiane), Pasquier, F. (Florence), Hollingworth, P. (Paul), Hanon, O. (Olivier), Fitzpatrick, A.L. (Annette), Buxbaum, J.D. (Joseph D), Campion, D. (Dominique), Crane, L.M.A., Becker, C.B.T. (Clinton), Gudnason, V. (Vilmundur), Cruchaga, C. (Carlos), Craig, D. (David), Amin, N. (Najaf), Berr, C. (Claudine), Lopez, O.L. (Oscar), Jager, P.L. (Philip) de, Deramecourt, V. (Vincent), Johnston, J.A. (Janet), Evans, D.A. (Denis), Lovestone, S. (Simon), Letenneur, L., Hernández, I. (Isabel), Rubinsztein, D.C. (David), Eiriksdottir, G. (Gudny), Sleegers, K. (Kristel), Goate, A.M. (Alison), Fiévet, N. (Nathalie), Huentelman, M.J. (Matthew), Gill, M. (Michael), Brown, K. (Kristelle), Kamboh, M.I. (M. Ilyas), Keller, L. (Lina), Barberger-Gateau, P. (Pascale), McGuinness, B. (Bernadette), Larson, E.B. (Eric), Myers, A.J. (Amanda), Dufouil, C. (Carole), Todd, S. (Stephen), Wallon, D. (David), Love, S. (Seth), Rogaeva, E. (Ekaterina), Gallacher, J. (John), St George-Hyslop, P.H. (Peter), Clarimon, J. (Jordi), Lleo, A. (Alberto), Bayer, T. (T.), Tsuang, D.W. (Debby), Yu, L. (Lei), Tsolaki, M. (Magda), Bossù, P. (Paola), Spalletta, G. (Gianfranco), Proitsi, P. (Petroula), Collinge, J. (John), Sorbi, S. (Sandro), Sanchez Garcia, F. (Florentino), Fox, N.C. (Nick), Hardy, J. (John), Naranjo, A. (Antonio), Bosco, P. (Paolo), Clarke, R. (Robert), Brayne, C. (Carol), Galimberti, D. (Daniela), Scarpini, E. (Elio), Bonuccelli, U. (Ubaldo), Mancuso, M. (Michelangelo), Siciliano, G. (Gabriele), Moebus, S. (Susanne), Mecocci, P. (Patrizia), Zompo, M.D. (Maria) del, Maier, W. (Wolfgang), Hampel, H. (Harald), Pilotto, A. (Alberto), Frank-Garcia, A. (Ana), Panza, F. (Francesco), Solfrizzi, V. (Vincenzo), Caffarra, P. (Paolo), Nacmias, B. (Benedetta), Perry, W. (William), Mayhaus, M. (Manuel), Lannfelt, L. (Lars), Hakonarson, H. (Hakon), Pichler, I. (Irene), Carrasquillo, M.M. (Minerva), Ingelsson, M. (Martin), Beekly, D. (Duane), Alvarez, V. (Victoria), Zou, F. (Fanggeng), Valladares, O. (Otto), Younkin, S., Coto, E. (Eliecer), Hamilton-Nelson, K.L. (Kara), Gu, W. (Wei), Razquin, C. (Cristina), Pastor, P. (Pau), Mateo, I. (Ignacio), Owen, M.J. (Michael), Faber, K.M. (Kelley), Jonsson, P.V. (Palmi), Combarros, O. (Onofre), O'Donovan, M. (Michael), Cantwell, L.B. (Laura), Soininen, H. (Hilkka), Blacker, D. (Deborah), Mead, S. (Simon), Mosley, T.H. (Thomas), Bennett, D.A. (David), Harris, T.B. (Tamara), Fratiglioni, L. (Laura), Holmes, C. (Clive), Bruijn, R.F.A.G. (Renée) de, Passmore, P.A. (Peter), Montine, T.J. (Thomas), Bettens, K. (Karolien), Rotter, J.I. (Jerome), Brice, A., Morgan, K. (Kevin), Foroud, T. (Tatiana), Kukull, W.A., Hannequin, D. (Didier), Powell, J. (John), Nalls, M.A. (Michael), Ritchie, K. (Karen), Lunetta, K.L. (Kathryn), Kauwe, J.S.K. (John), Boerwinkle, E.A. (Eric), Riemenschneider, M. (Matthias), Boada, M. (Mercè), Hiltunen, M. (Mikko), Martin, E.R. (Eden), Rujescu, D. (Dan), Dartigues, J.-F., Mayeux, R. (Richard), Tzourio, C. (Christophe), Hofman, A. (Albert), Nöthen, M.M. (Markus), Graff, M.J. (Maud J.L.), Psaty, B.M. (Bruce), Haines, J.L. (Jonathan), Lathrop, M. (Mark), Pericak-Vance, M.A. (Margaret), Launer, L.J. (Lenore), Broeckhoven, C. (Christine) van, Farrer, L.A. (Lindsay), Duijn, C.M. (Cornelia) van, Ramirez, A. (Alfredo), Seshadri, S. (Sudha), Schellenberg, G.D. (Gerard), Amouyel, P. (Philippe), Williams, J. (Julie), Escott-Price, V. (Valentina), Bellenguez, C. (Céline), Wang, L.S. (Li-San), Choi, S.-H. (Seung-Hoan), Harold, D. (Denise), Jones, L. (Louisa), Holmans, P.A. (Peter), Gerrish, A. (Amy), Vedernikov, A. (Alexey), Richards, A. (Alex), DeStefano, A.L. (Anita), Lambert, J.-C. (J.), Ibrahim-Verbaas, C.A. (Carla), Naj, A.C. (Adam), Sims, R. (Rebecca), Jun, Y. (Yang), Bis, J.C. (Joshua), Beecham, G.W. (Gary), Grenier-Boley, B. (Benjamin), Russo, G. (Giancarlo), Thornton-Wells, T.A. (Tricia), Denning, N. (Nicola), Smith, A.V. (Davey), Chouraki, V. (Vincent), Thomas, C. (Charlene), Ikram, M.A. (Arfan), Zelenika, D. (Diana), Vardarajan, B.N. (Badri), Kamatani, Y. (Yoichiro), Lin, C.-F. (Chiao-Feng), Schmidt, R. (Reinhold), Kunkle, B. (Brian), Dunstan, M.L. (Melanie), Vronskaya, M. (Maria), Johnson, A.D. (Andrew), Ruiz, A. (Agustin), Bihoreau, M.-T. (Marie-Thérèse), Reitz, C. (Christiane), Pasquier, F. (Florence), Hollingworth, P. (Paul), Hanon, O. (Olivier), Fitzpatrick, A.L. (Annette), Buxbaum, J.D. (Joseph D), Campion, D. (Dominique), Crane, L.M.A., Becker, C.B.T. (Clinton), Gudnason, V. (Vilmundur), Cruchaga, C. (Carlos), Craig, D. (David), Amin, N. (Najaf), Berr, C. (Claudine), Lopez, O.L. (Oscar), Jager, P.L. (Philip) de, Deramecourt, V. (Vincent), Johnston, J.A. (Janet), Evans, D.A. (Denis), Lovestone, S. (Simon), Letenneur, L., Hernández, I. (Isabel), Rubinsztein, D.C. (David), Eiriksdottir, G. (Gudny), Sleegers, K. (Kristel), Goate, A.M. (Alison), Fiévet, N. (Nathalie), Huentelman, M.J. (Matthew), Gill, M. (Michael), Brown, K. (Kristelle), Kamboh, M.I. (M. Ilyas), Keller, L. (Lina), Barberger-Gateau, P. (Pascale), McGuinness, B. (Bernadette), Larson, E.B. (Eric), Myers, A.J. (Amanda), Dufouil, C. (Carole), Todd, S. (Stephen), Wallon, D. (David), Love, S. (Seth), Rogaeva, E. (Ekaterina), Gallacher, J. (John), St George-Hyslop, P.H. (Peter), Clarimon, J. (Jordi), Lleo, A. (Alberto), Bayer, T. (T.), Tsuang, D.W. (Debby), Yu, L. (Lei), Tsolaki, M. (Magda), Bossù, P. (Paola), Spalletta, G. (Gianfranco), Proitsi, P. (Petroula), Collinge, J. (John), Sorbi, S. (Sandro), Sanchez Garcia, F. (Florentino), Fox, N.C. (Nick), Hardy, J. (John), Naranjo, A. (Antonio), Bosco, P. (Paolo), Clarke, R. (Robert), Brayne, C. (Carol), Galimberti, D. (Daniela), Scarpini, E. (Elio), Bonuccelli, U. (Ubaldo), Mancuso, M. (Michelangelo), Siciliano, G. (Gabriele), Moebus, S. (Susanne), Mecocci, P. (Patrizia), Zompo, M.D. (Maria) del, Maier, W. (Wolfgang), Hampel, H. (Harald), Pilotto, A. (Alberto), Frank-Garcia, A. (Ana), Panza, F. (Francesco), Solfrizzi, V. (Vincenzo), Caffarra, P. (Paolo), Nacmias, B. (Benedetta), Perry, W. (William), Mayhaus, M. (Manuel), Lannfelt, L. (Lars), Hakonarson, H. (Hakon), Pichler, I. (Irene), Carrasquillo, M.M. (Minerva), Ingelsson, M. (Martin), Beekly, D. (Duane), Alvarez, V. (Victoria), Zou, F. (Fanggeng), Valladares, O. (Otto), Younkin, S., Coto, E. (Eliecer), Hamilton-Nelson, K.L. (Kara), Gu, W. (Wei), Razquin, C. (Cristina), Pastor, P. (Pau), Mateo, I. (Ignacio), Owen, M.J. (Michael), Faber, K.M. (Kelley), Jonsson, P.V. (Palmi), Combarros, O. (Onofre), O'Donovan, M. (Michael), Cantwell, L.B. (Laura), Soininen, H. (Hilkka), Blacker, D. (Deborah), Mead, S. (Simon), Mosley, T.H. (Thomas), Bennett, D.A. (David), Harris, T.B. (Tamara), Fratiglioni, L. (Laura), Holmes, C. (Clive), Bruijn, R.F.A.G. (Renée) de, Passmore, P.A. (Peter), Montine, T.J. (Thomas), Bettens, K. (Karolien), Rotter, J.I. (Jerome), Brice, A., Morgan, K. (Kevin), Foroud, T. (Tatiana), Kukull, W.A., Hannequin, D. (Didier), Powell, J. (John), Nalls, M.A. (Michael), Ritchie, K. (Karen), Lunetta, K.L. (Kathryn), Kauwe, J.S.K. (John), Boerwinkle, E.A. (Eric), Riemenschneider, M. (Matthias), Boada, M. (Mercè), Hiltunen, M. (Mikko), Martin, E.R. (Eden), Rujescu, D. (Dan), Dartigues, J.-F., Mayeux, R. (Richard), Tzourio, C. (Christophe), Hofman, A. (Albert), Nöthen, M.M. (Markus), Graff, M.J. (Maud J.L.), Psaty, B.M. (Bruce), Haines, J.L. (Jonathan), Lathrop, M. (Mark), Pericak-Vance, M.A. (Margaret), Launer, L.J. (Lenore), Broeckhoven, C. (Christine) van, Farrer, L.A. (Lindsay), Duijn, C.M. (Cornelia) van, Ramirez, A. (Alfredo), Seshadri, S. (Sudha), Schellenberg, G.D. (Gerard), Amouyel, P. (Philippe), and Williams, J. (Julie)
Published: 2014
Full Text: View/download PDF

47. A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project

Author: Marroni, Fabio, Pfeufer, A., Aulchenko, Y. S., Franklin, C. S., Isaacs, A., Pichler, I., Wild, S. H., Oostra, B. A., Wright, A. F., Campbell, H., Witteman, J. C., Kääb, S., Hicks, A. A., Gyllensten, U., Rudan, I., Meitinger, T., Pattaro, C., Van, C. M., Wilson, J. F., Pramstaller, P. P., and E. U. R.
Subjects: Adult, Male, Genotype, European Continental Ancestry Group, Signal Transducing, Adaptor Proteins, Single Nucleotide, Middle Aged, Chromosomes, Electrocardiography, G-Protein-Coupled, Phenotype, Heart Rate, Receptors, Humans, genetics, Pair 13, Female, Polymorphism, genetics, Adult, Aged, Chromosomes, Human, Pair 13, Electrocardiography, European Continental Ancestry Group, genetics, Female, Genome-Wide Association Study, Genotype, Heart Rate, genetics, Humans, Male, Middle Aged, Phenotype, Polymorphism, Single Nucleotide, Receptors, Aged, Genome-Wide Association Study
Published: 2009

48. Healthy diet in primary care: views of general practitioners and nurses from Europe

Author: Pullerits, L, Sammut, MR, Sghedoni, D, Sheehan, M, Thireos, EA, Tataradze, R, Jurgova, E, Frolova, EV, Keinanen Kiukkanniemi, S, Vucak, J, Bjorkelund, C, Tabenkin, H, Kitai, E, Radzeviciene, R, Ungan, M, Govaerts, F, Pas, L, Franck, A, Markou, V, Sanchez, A, Ruiz, M, Pineiro, R, Brotons, C, Bulc, M, Ciurana, R, Drenthen, T, Durrer, D, Godycki Cwirko, M, Gorpelioglu, S, Kloppe, P, Lionis, C, Mancini, M, Carlos Martins, Mierzecki, A, Pichler, I, and Faculdade de Medicina
Subjects: Adult, Male, Health Knowledge, Attitudes, Practice, medicine.medical_specialty, Mediterranean diet, Attitude of Health Personnel, education, Population, Nurses, Medicine (miscellaneous), Primary care, Patient Education as Topic, Nursing, Surveys and Questionnaires, medicine, Humans, Mass Media, Postal Service, Education, Nursing, education.field_of_study, Nutrition and Dietetics, Primary Health Care, Health professionals, business.industry, Physicians, Family, Middle Aged, Healthy diet, Diet, Europe, Postal survey, Family medicine, Female, business
Abstract: Background: Most of the national colleges of general practitioners (GPs) do not have their own dietary/nutritional tools, and GPs and nurses do not have the time, knowledge, or skills to advise their patients about desirable dietary practices. Objective: To assess the usefulness of a simple and practical guide on healthy diet to be used by European GPs and nurses. Design: A postal survey was mailed to 171 GPs and nurses from 12 European countries to obtain information about the usefulness of a guide on healthy diet developed by EUROPREV. Results: The perception of health professionals is that the main source of information on healthy diet for the population was the media. In all, 95% of GPs and nurses reported that the guide was useful; 93, 95, and 82% reported that the concepts were concise, easy to understand, and realistic, respectively. Also, 77% reported that the type of counselling recommended was feasible and could be applied, 94% reported that the implementation measures proposed could be effective and 88% reported that the Traditional Mediterranean Diet Pyramid is useful, but some concerns about the content were mentioned. Conclusions: GPs and nurses from Europe think that a practical guide on healthy diet developed by EUROPREV could be used to advise patients in primary care, although the Traditional Mediterranean Diet Pyramid should be modified.
Published: 2005

49. Automated workflow-based exploitation of pathway databases provides new insights into genetic associations of metabolite profiles

Author: Dharuri, H. (Harish), Henneman, P. (Peter), Demirkan, A. (Ayşe), Klinken, J.B. (Jan) van, Mook-Kanamori, D.O. (Dennis), Wang-Sattler, R. (Rui), Gieger, C. (Christian), Adamski, J. (Jerzy), Hettne, K.M. (Kristina), Roos, M. (Marco), Suhre, K. (Karsten), Duijn, C.M. (Cornelia) van, Willems van Dijk, J.A.P. (Ko), Hoen, P.A.C. (Peter) 't, Ugocsai, P. (Peter), Isaacs, A.J. (Aaron), Pramstaller, P.P. (Peter Paul), Liebisch, G. (Gerhard), Wilson, J.F. (James F), Johansson, A. (Åsa), Rudan, I. (Igor), Aulchenko, Y.S. (Yurii), Kirichenko, A.V. (Anatoly), Janssens, A.C.J.W. (Cécile), Jansen, R.C. (Ritsert), Gnewuch, C. (Carsten), Domingues, I. (Inês), Pattaro, C. (Cristian), Wild, S.H. (Sarah), Jonasson, I. (Inger), Polasek, O. (Ozren), Zorkoltseva, I.V. (Irina), Hofman, A. (Albert), Karssen, L.C. (Lennart), Struchalin, M.V. (Maksim), Floyd, J. (Jamie), Igl, W. (Wilmar), Biloglav, Z. (Zrinka), Broer, L. (Linda), Pfeufer, A. (Arne), Pichler, I. (Irene), Campbell, S. (Susan), Zaboli, G. (Ghazal), Kolcic, I. (Ivana), Rivadeneira Ramirez, F. (Fernando), Huffman, J.E. (Jennifer), Hastie, N. (Nick), Uitterlinden, A.G. (André), Franke, L. (Lude), Franklin, C.S. (Christopher), Vitart, V. (Veronique), Witteman, J.C.M. (Jacqueline), Axenovich, T.I. (Tatiana), Oostra, B.A. (Ben), Meitinger, T. (Thomas), Hicks, A.A. (Andrew), Hayward, C. (Caroline), Wright, A.F. (Alan), Gyllensten, U. (Ulf), Campbell, H. (Harry), Schmitz, G. (Gerd), Dharuri, H. (Harish), Henneman, P. (Peter), Demirkan, A. (Ayşe), Klinken, J.B. (Jan) van, Mook-Kanamori, D.O. (Dennis), Wang-Sattler, R. (Rui), Gieger, C. (Christian), Adamski, J. (Jerzy), Hettne, K.M. (Kristina), Roos, M. (Marco), Suhre, K. (Karsten), Duijn, C.M. (Cornelia) van, Willems van Dijk, J.A.P. (Ko), Hoen, P.A.C. (Peter) 't, Ugocsai, P. (Peter), Isaacs, A.J. (Aaron), Pramstaller, P.P. (Peter Paul), Liebisch, G. (Gerhard), Wilson, J.F. (James F), Johansson, A. (Åsa), Rudan, I. (Igor), Aulchenko, Y.S. (Yurii), Kirichenko, A.V. (Anatoly), Janssens, A.C.J.W. (Cécile), Jansen, R.C. (Ritsert), Gnewuch, C. (Carsten), Domingues, I. (Inês), Pattaro, C. (Cristian), Wild, S.H. (Sarah), Jonasson, I. (Inger), Polasek, O. (Ozren), Zorkoltseva, I.V. (Irina), Hofman, A. (Albert), Karssen, L.C. (Lennart), Struchalin, M.V. (Maksim), Floyd, J. (Jamie), Igl, W. (Wilmar), Biloglav, Z. (Zrinka), Broer, L. (Linda), Pfeufer, A. (Arne), Pichler, I. (Irene), Campbell, S. (Susan), Zaboli, G. (Ghazal), Kolcic, I. (Ivana), Rivadeneira Ramirez, F. (Fernando), Huffman, J.E. (Jennifer), Hastie, N. (Nick), Uitterlinden, A.G. (André), Franke, L. (Lude), Franklin, C.S. (Christopher), Vitart, V. (Veronique), Witteman, J.C.M. (Jacqueline), Axenovich, T.I. (Tatiana), Oostra, B.A. (Ben), Meitinger, T. (Thomas), Hicks, A.A. (Andrew), Hayward, C. (Caroline), Wright, A.F. (Alan), Gyllensten, U. (Ulf), Campbell, H. (Harry), and Schmitz, G. (Gerd)
Abstract: Background: Genome-wide association studies (GWAS) have identified many common single nucleotide polymorphisms (SNPs) that associate with clinical phenotypes, but these SNPs usually explain just a small part of the heritability and have relatively modest effect sizes. In contrast, SNPs that associate with metabolite levels generally explain a higher percentage of the genetic variation and demonstrate larger effect sizes. Still, the discovery of SNPs associated with metabolite levels is challenging since testing all metabolites measured in typical metabolomics studies with all SNPs comes with a severe multiple testing penalty. We have developed an automated workflow approach that utilizes prior knowledge of biochemical pathways present in databases like KEGG and BioCyc to generate a smaller SNP set relevant to the metabolite. This paper explores the opportunities and challenges in the analysis of GWAS of metabolomic phenotypes and provides novel insights into the genetic basis of metabolic variation through the re-analysis of published GWAS datasets. Results: Re-analysis of the published GWAS dataset from Illig et al. (Nature Genetics, 2010) using a pathway-based workflow (http://www.myexperiment.org/packs/319.html), confirmed previously identified hits and identified a new locus of human metabolic individuality, associating Aldehyde dehydrogenase family1 L1 (ALDH1L1) with serine/glycine ratios in blood. Replication in an independent GWAS dataset of phospholipids (Demirkan et al., PLoS Genetics, 2012) identified two novel loci supported by additional literature evidence: GPAM (Glycerol-3 phosphate acyltransferase) and CBS (Cystathionine beta-synthase). In addition, the workflow approach provided novel insight into the affected pathways and relevance of some of these gene-metabolite pairs in disease development and progression. Conclusions: We demonstrate the utility of automated exploitation of background knowledge present in pathway databases for the analysis of GWA
Published: 2013
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50. Serum iron levels and the risk of Parkinson disease: a mendelian randomization study

Author: Pichler, I., Greco, M.F. Del, Gogele, M., Lill, C.M., Bertram, L., Do, C.B., Eriksson, N., Foroud, T., Myers, R.H., Consortium, P.G., Nalls, M., Keller, M.F., Benyamin, B., Whitfield, J.B., Pramstaller, P.P., Hicks, A.A., Thompson, J.R., Minelli, C., Bloem, B.R., Swinkels, D.W., Vermeulen, S., Duijn, C.M. van, et al., Pichler, I., Greco, M.F. Del, Gogele, M., Lill, C.M., Bertram, L., Do, C.B., Eriksson, N., Foroud, T., Myers, R.H., Consortium, P.G., Nalls, M., Keller, M.F., Benyamin, B., Whitfield, J.B., Pramstaller, P.P., Hicks, A.A., Thompson, J.R., Minelli, C., Bloem, B.R., Swinkels, D.W., Vermeulen, S., Duijn, C.M. van, and et al.
Abstract: Contains fulltext : 129654.pdf (publisher's version ) (Open Access), BACKGROUND: Although levels of iron are known to be increased in the brains of patients with Parkinson disease (PD), epidemiological evidence on a possible effect of iron blood levels on PD risk is inconclusive, with effects reported in opposite directions. Epidemiological studies suffer from problems of confounding and reverse causation, and mendelian randomization (MR) represents an alternative approach to provide unconfounded estimates of the effects of biomarkers on disease. We performed a MR study where genes known to modify iron levels were used as instruments to estimate the effect of iron on PD risk, based on estimates of the genetic effects on both iron and PD obtained from the largest sample meta-analyzed to date. METHODS AND FINDINGS: We used as instrumental variables three genetic variants influencing iron levels, HFE rs1800562, HFE rs1799945, and TMPRSS6 rs855791. Estimates of their effect on serum iron were based on a recent genome-wide meta-analysis of 21,567 individuals, while estimates of their effect on PD risk were obtained through meta-analysis of genome-wide and candidate gene studies with 20,809 PD cases and 88,892 controls. Separate MR estimates of the effect of iron on PD were obtained for each variant and pooled by meta-analysis. We investigated heterogeneity across the three estimates as an indication of possible pleiotropy and found no evidence of it. The combined MR estimate showed a statistically significant protective effect of iron, with a relative risk reduction for PD of 3% (95% CI 1%-6%; p = 0.001) per 10 microg/dl increase in serum iron. CONCLUSIONS: Our study suggests that increased iron levels are causally associated with a decreased risk of developing PD. Further studies are needed to understand the pathophysiological mechanism of action of serum iron on PD risk before recommendations can be made.
Published: 2013

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