Author: "Manunta, P." - Searchworks@Jio Institute Digital Library Search Results

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101. Practical approach to patient therapy affected by Autosomal Dominant Autosomic Polycystic Kidney Disease

Author: Esposito, C., La Milia, V., Altobelli, C., Roberta Cerutti, Manunta, P., Dallera, N., Piscopo, G., Magistroni, R., Esposito, Ciro, La Milia, Vincenzo, Altobelli, Claudia, Cerutti, Roberta, Manunta, Paolo, Dallera, Nadia, Piscopo, Giovanni, and Magistroni, Riccardo
Subjects: Renal failure, Cyst, Autosomal Dominant Polycystic Kidney Disease, tolvaptan, Tolvaptan, Practice Guidelines as Topic, Humans, Drug Interactions, Aneurysm, Polycystic Kidney, Autosomal Dominant, Antidiuretic Hormone Receptor Antagonists
Abstract: The Autosomal Dominant Polycystic Kidney Disease(ADPKD) is the most frequent renal genetic condition and involves 7 to 10% of subjects undergoing renal replacement therapy. It is estimated that between 24,000 and 34,000 subjects in Italy are affected by this condition. For an illness that has long been neglected due to a lack of treatment options, an attractive treatment possibility is now available: tolvaptan has shown clinical efficacy regarding disease progression in two clinical trials (ADPKD patients with mild renal failure and ADPKD patients with advanced renal failure). The possible liver toxicity expressed in about 4% of the subjects exposed to the drug and an important aquaretic effect suggest prudence and attention in the use of this new molecule. Based on these critical points, some clinicians with direct experience in the use of the drug have briefly collected in the pages to follow the main clinical recommendations for the treatment of ADPKD patints. The recommendations concern the general approach to the patient affected by ADPKD but with particular attention to the aspects related to the new treatment. The delicate task of introducing the opportunities and limitations of the offered therapy to the patient will be deepened. Finally, the document wants to suggest how best to organize a clinic dedicated to this condition.
Published: 2018

102. Investigating ground instability in Indonesia by using multi temporal SAR interferometry

Author: Bovenga, F., Ganas, A., Refice, A., Belmonte, A., Nutricato, R., Nitti, D. O., Chiaradia, M. T., Valkaniotis, S., Gkioni, S., Kosma, C., Manunta, P., Elizar, E., Darusman, D., and Bally, P.
Subjects: SAR Interferometry, Indonesia, ground instability, Sentinel-1
Abstract: Indonesia is periodically affected by severe volcanic eruptions and earthquakes, which are geologically coupled to the convergence of the Australian tectonic plate beneath the Sunda Plate. This work is aimed at performing an analysis of ground displacements over Indonesian sites through Multi-temporal SAR interferometry (MTI). Two test sites, in Sumatra and Java, have been selected according to the following requirements: presence of ground instabilities, possibly related to onshore active faults or volcanoes; good expected interferometric coherence, availability of reliable archived interferometric SAR datasets, availability of ancillary geophysical data. Displacement maps have been obtained by processing COSMO-SkyMed and Sentinel-1 datasets available on the area, through SPINUA algorithm, which performs Persistent Scattering (PS) analysis. The use of datasets coming from two datasets, allows cross-validating final results. The processing of Sentinel-1 data has been more complex w.r.t. that of COSMO-SkyMed data, as standard MTI displacement maps showed strong artifacts, likely due to residual atmospheric contributions and orbital errors. In order to overcome this problem, an alternative processing scheme has been experimented. The tectonic analysis in Indonesia is difficult because the vegetation cover in the area causes lack of PS along and across the faults. Our MTI results provided useful information about the ground stability/instability within the selected test sites. In particular, concerning the tectonic activity in Sumatra, the MTI displacement analysis seems to confirm the inactivity of the Aceh fault segment, as foreseen by geodetic studies. Also, in the Java test site no displacement signal was detected related to possible activity of the faults present in the area. Besides the tectonic activity, ground displacements were also identified basically reflecting local effects. The causes of these displacements were investigated by using ancillary geological data, and in situ inspections. The subsidence phenomena are mainly related to the presence of unconsolidated coastal/alluvial sediments and groundwater pumping. An interesting example concerns a coastal area in Banda Aceh, which was overrun and completely destroyed by the 2004 tsunami. Most subsiding PS targets are positioned on port facilities structures and embankments. Extensive rebuilding and new constructions in the area add weight to the unconsolidated sediments. There is also an extensive presence of seasonally flooded crops and salt production flats. This suggests that the subsidence occurring in the area is probably related to compaction of sediments and/or recent artificial fill. A subsidence has been also revealed in Java over the Yogyakarta urban area. This local displacement is induced by groundwater exploitation and soft sediment compaction, a result of major urban expansion and human activity during the last years. The high resolution of COSMO-SkyMed data allows catching interesting details over urban structures. Finally, interesting localised subsidence rates are observed upon recent (2010) volcanic deposits at the flanks of Mt Merapi in Java, a result of compaction of the soft explosive products (pyroclastic density currents and pumice).
Published: 2018

103. Surgical management of hip prosthetic failure in metallosis: A case series and literature review

Author: Pisanu, Francesco, Andreozzi, Matteo, Fiori, Enrico, Altamore, Fabiana, Bartoli, Marco, Caggiari, Gianfilippo, Ortu, Sebastiano, Rios, Mario, Manunta, Andrea Fabio, and Doria, Carlo
Abstract: Local and remote complications can be observed in hip prosthesis failures associated with metallosis. Structural changes in the periprosthetic bone and soft tissues may not always be precisely assessed preoperatively due to metal artifacts. The unpredictability of the damage extension, potentially leading to complex and insidious surgeries, requires the availability of alternative surgical plan(s) for the reconstruction of the joint. The aim of the study is to present and analyze, with the literature data support, practical tips for the revision of the prosthetic components, the management of ARMD and of intraoperative complications in the unusual scenario of metallosis.
Published: 2021
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104. Repeatability of ultrasound examination of the optic nerve sheath diameter in the adult cat: comparison between healthy cats and cats suffering from presumed intracranial hypertension.

Author: Evangelisti, Maria Antonietta, Carta, Giovanni, Burrai, Giovanni P, Pinna Parpaglia, Maria Luisa, Cubeddu, Francesca, Ballocco, Isabella, Puggioni, Antonella, and Manunta, Maria Lucia
Abstract: Objectives: The objectives of this study were to test: (1) the repeatability of ultrasonographic examination of the optic nerve sheath diameter (ONSD) in the cat; (2) the association between the ONSD and age, sex and body weight in healthy cats; and (3) the difference in the ONSD between healthy cats and those suffering from presumed intracranial hypertension (ICH). Methods: This study had a prospective, blinded, observational cross-sectional study design. Two groups of animals were considered: healthy cats (group A) and cats with a diagnosis of presumed ICH (group B). The ONSD was evaluated, measured and compared between the two groups via an ultrasonographic transpalpebral approach. Repeatability of the procedure was evaluated through the intraclass correlation coefficient (ICC). Data were statistically compared using the Student's t -test and linear regression analysis. Results: A strong inter- and intraobserver ICC indicating good repeatability was observed. The interobserver ICC was 0.965 (P <0.05) for the right eye and 0.956 (P <0.05) for the left eye. The intraobserver ICC was 0.988 (P <0.05) and 0.984 (P <0.05) for the right and left eyes, respectively. In healthy cats the mean ± SD ONSD was 1.23 ± 0.11 mm (range 1–1.47 mm) and 1.23 ± 0.10 (range 1–1.4 mm) for right and left eyes, respectively. The ONSD was not related to sex or weight; a weak relationship was observed with age. In group B, the mean ONSD was 1.68 ± 0.13 mm (range 1.5–1.9 mm) and 1.61 ± 0.15 mm (range 1.4–1.9 mm) for the right and left eyes, respectively. In group B, the ONSD was statistically significantly larger than in group A, the healthy cats (P <0.001). Conclusions and relevance: The transpalpebral ultrasonographic technique is a non-invasive, feasible and reproducible method to measure ONSD both in healthy cats and in cats suffering from suspected ICH. [ABSTRACT FROM AUTHOR]
Published: 2020
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105. Affirmation de l'obstruction sous-vésicale avant chirurgie.

Author: Bentellis, I., El-Akri, M., Hascoet, J., Alimi, Q., Manunta, A., Kerdraon, J., Voiry, C., and Peyronnet, B.
Abstract: Présenter les moyens disponibles pour affirmer l'obstruction sous-vésicale (OSV), leurs valeurs diagnostiques et pronostiques respectives et leurs indications. Une revue de la littérature a été effectuée à l'aide de la base de données Medline/PubMed et SCOPUS recherchant les articles traitant de l'évaluation préopératoire de l'obstruction sous-vésicale. L'indication d'une chirurgie de désobstruction est basée sur un faisceau d'arguments cliniques et selon les cas radiologiques, endoscopiques et urodynamiques. Outre l'examen clinique et la débitmétrie avec mesure du résidu postmictionnel, l'échographie et l'endoscopie peuvent apporter des arguments en faveur d'une OSV. Bien que le bilan urodynamique ne soit pas systématique avant chirurgie de désobstruction (en particulier prostatique), l'étude pression débit reste le gold standard , l'OSV étant, en soi, un concept urodynamique. L'interprétation de l'étude pression débit se fait à l'aide du nomogramme de l'ICS chez l'homme avec calcul de l'index d'OSV (Bladder outlet obstruction index = PdetQmax−2 qmax). Chez la femme il n'existe pas de critère consensuel définissant l'OSV urodynamique. Bien que peu développé en France, l'examen vidéo-urodynamique qui associe la fluoroscopie au bilan urodynamique standard peut être un outil d'intérêt dans la recherche préopératoire d'une OSV. Plusieurs pistes d'alternatives non invasives à l'urodynamique ont été évaluées au cours des dernières années comme le condom test, le penile cuff test ou les biomarqueurs urinaires mais restent tous du domaine de la recherche clinique. L'affirmation de l'OSV en préopératoire repose, stricto sensu, sur l'examen urodynamique avec étude pression débit, l'OSV étant en soi un concept urodynamique. Toutefois l'urodynamique n'est pas indiqué de manière systématique avant chirurgie de désobstruction, notamment prostatique. L'examen clinique et la débitmétrie libre avec mesure du résidu post-mictionnel restent les bases indispensables de l'évaluation d'une OSV à pratiquer de manière systématique en préopératoire. To present the various evaluations possible to diagnose bladder outlet obstruction (BOO), their diagnostic performances and prognostic values along with their indications. A literature review was conducted on PubMed looking for studies addressing the preoperative assessment of BOO. The surgical decision for a bladder outlet procedure is based on a cluster of clinical arguments That might be completed with radiological, endoscopic and urodynamic parameters. Beyond physical examination and uroflowmetry with post-void residual, ultrasound, cystourethrography and cystoscopy may provide help diagnosing BOO. Although urodynamics are not systematic prior to a bladder outlet surgical procedure (especially benign prostatic obstruction surgery), the pressure flow study remains the gold standard, BOO being, per se , a urodynamic concept. The pressure flow study shall be interpreted suing the ICS nomogram in male patients, with calculation of the BOO index (BOOI = PdetQmax-2Qmax). In female patients, there is no consensual urodynamic definition of BOO. Despite its limited spread in France, video-urodynamics, which combine a "plain" urodynamic with a cystourethrography might be a useful tool to diagnose BOO preoperatively. Several non-invasive exams, such as the penile cuff test, the condom test or urinary biomarkers, have been described over the past few years but none has been assessed enough to be used in daily practice. The diagnosis of BOO preoperatively relies, per se , on urodynamics with pressure flow study, BOO being a urodynamic concept. However, a urodynamic study shall not be systematically performed before a bladder outlet surgical procedure, especially before BPO surgery. Physical examination, free uroflowmetry and post-void residuals remain the cornerstones of BOO assessment, and to be performed in all patients before an outlet procedure. [ABSTRACT FROM AUTHOR]
Published: 2020
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106. GENE INTERACTIONS OF ALPHA-ADDUCIN AND LANOSTEROL SYNTHASE IMPACT RENAL IMPAIRMENT IN SALT SENSITIVE HYPERTENSION

Author: Maggioni, C., primary, Lanzani, C., additional, Zagato, L., additional, Messaggio, E., additional, Citterio, L., additional, Simonini, M., additional, Brioni, E., additional, Carpini, S. Delli, additional, Magnaghi, C., additional, Hamlyn, J.M., additional, Manunta, P., additional, and Vespa, M., additional
Published: 2018
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107. Biological interpretation of genome-wide association studies using predicted gene functions

Author: Pers, T, Karjalainen, J, Chan, Y, Westra, H, Wood, A, Yang, J, Lui, J, Vedantam, S, Gustafsson, S, Esko, T, Frayling, T, Speliotes, E, Boehnke, M, Raychaudhuri, S, Fehrmann, R, Hirschhorn, J, Franke, L, Chu, A, Estrada, K, Luan, J, Kutalik, Z, Amin, N, Buchkovich, M, Croteau Chonka, D, Day, F, Duan, Y, Fall, T, Ferreira, T, Jackson, A, Lo, K, Locke, A, Mägi, R, Mihailov, E, Porcu, E, Randall, J, Scherag, A, Vinkhuyzen, A, Winkler, T, Workalemahu, T, Zhao, J, Absher, D, Albrecht, E, Anderson, D, Baron, J, Beekman, M, Demirkan, A, Ehret, G, Feenstra, B, Feitosa, M, Fischer, K, Fraser, R, Goel, A, Gong, J, Justice, E, Kanoni, S, Kleber, M, Kristiansson, K, Lim, U, Lotay, V, Mangino, M, Mateo Leach, I, Medina Gomez, C, Nalls, M, Nyholt, D, Palmer, C, Pasko, D, Pechlivanis, S, Prokopenko, I, Ried, J, Ripke, S, Shungin, D, Stancáková, A, Strawbridge, R, Sung, Y, Tanaka, T, Teumer, A, Trompet, S, van der Laan, S, van Setten, J, Van Vliet Ostaptchouk, J, Wang, Z, Yengo, L, Zhang, W, Afzal, U, Ärnlöv, J, Arscott, G, Bandinelli, S, Barrett, A, Bellis, C, Bennett, A, Berne, C, Blüher, M, Bolton, J, Böttcher, Y, Boyd, H, Bruinenberg, M, Buckley, B, Buyske, S, Caspersen, I, Chines, P, Clarke, R, Claudi Boehm, S, Cooper, M, Daw, E, De Jong, A, Deelen, J, Delgado, G, Denny, J, Dhonukshe Rutten, R, Dimitriou, M, Doney, A, Dörr, M, Eklund, N, Eury, E, Folkersen, L, Garcia, M, Geller, F, Giedraitis, V, Go, A, Grallert, H, Grammer, T, Gräßler, J, Grönberg, H, de Groot, L, Groves, C, Haessler, J, Haller, T, Hallmans, G, Hannemann, A, Hartman, C, Hassinen, M, Hayward, C, Heard Costa, N, Helmer, Q, Hemani, G, Henders, A, Hillege, H, Hlatky, M, Hoffmann, W, Hoffmann, P, Holmen, O, Houwing Duistermaat, J, Illig, T, Isaacs, A, James, A, Jeff, J, Johansen, B, Johansson, Å, Jolley, J, Juliusdottir, T, Junttila, J, Kho, A, Kinnunen, L, Klopp, N, Kocher, T, Kratzer, W, Lichtner, P, Lind, L, Lindström, J, Lobbens, S, Lorentzon, M, Lu, Y, Lyssenko, V, Magnusson, P, Mahajan, A, Maillard, M, Mcardle, W, Mckenzie, C, Mclachlan, S, Mclaren, P, Menni, C, Merger, S, Milani, L, Moayyeri, A, Monda, K, Morken, M, Müller, G, Müller Nurasyid, M, Musk, A, Narisu, N, Nauck, M, Nolte, I, Nöthen, M, Oozageer, L, Pilz, S, Rayner, N, Renstrom, F, Robertson, N, Rose, L, Roussel, R, Sanna, S, Scharnagl, H, Scholtens, S, Schumacher, F, Schunkert, H, Scott, R, Sehmi, J, Seufferlein, T, Shi, J, Silventoinen, K, Smit, J, Smith, A, Smolonska, J, Stanton, A, Stirrups, K, Stott, D, Stringham, H, Sundström, J, Swertz, M, Syvänen, A, Tayo, B, Thorleifsson, G, Tyrer, J, van Dijk, S, van Schoor, N, van der Velde, N, van Heemst, D, van Oort, F, Vermeulen, S, Verweij, N, Vonk, J, Waite, L, Waldenberger, M, Wennauer, R, Wilkens, L, Willenborg, C, Wilsgaard, T, Wojczynski, M, Wong, A, Wright, A, Zhang, Q, Arveiler, D, Bakker, S, Beilby, J, Bergman, R, Bergmann, S, Biffar, R, Blangero, J, Boomsma, I, Bornstein, S, Bovet, P, Brambilla, P, Brown, M, Campbell, H, Caulfield, M, Chakravarti, A, Collins, R, Collins, F, Crawford, D, Cupples, L, Danesh, J, de Faire, U, den Ruijter, H, Erbel, R, Erdmann, J, Eriksson, J, Farrall, M, Ferrannini, E, Ferrières, J, Ford, I, Forouhi, N, Forrester, T, Gansevoort, R, Gejman, P, Gieger, C, Golay, A, Gottesman, O, Gudnason, V, Gyllensten, U, Haas, D, Hall, A, Harris, T, Hattersley, A, Heath, A, Hengstenberg, C, Hicks, A, Hindorff, L, Hingorani, A, Hofman, A, Hovingh, G, Humphries, S, Hunt, S, Hypponen, E, Jacobs, K, Jarvelin, M, Jousilahti, P, Jula, A, Kaprio, J, Kastelein, J, Kayser, M, Kee, F, Keinanen Kiukaanniemi, S, Kiemeney, L, Kooner, J, Kooperberg, C, Koskinen, S, Kovacs, P, Kraja, A, Kumari, M, Kuusisto, J, Lakka, T, Langenberg, C, Le Marchand, L, Lehtimäki, T, Lupoli, S, Madden, P, Männistö, S, Manunta, P, Marette, A, Matise, T, Mcknight, B, Meitinger, T, Moll, F, Montgomery, G, Morris, A, Murray, J, Nelis, M, Ohlsson, C, Oldehinkel, A, Ong, K, Ouwehand, W, Pasterkamp, G, Peters, A, Pramstaller, P, Price, J, Qi, L, Raitakari, O, Rankinen, T, Rao, D, Rice, T, Ritchie, M, Rudan, I, Salomaa, V, Samani, N, Saramies, J, Sarzynski, M, Schwarz, P, Sebert, S, Sever, P, Shuldiner, A, Sinisalo, J, Steinthorsdottir, V, Stolk, R, Tardif, J, Tönjes, A, Tremblay, A, Tremoli, E, Virtamo, J, Vohl, M, Amouyel, P, Asselbergs, F, Assimes, T, Bochud, M, Boehm, B, Boerwinkle, E, Bottinger, E, Bouchard, C, Cauchi, S, Chambers, J, Chanock, S, Cooper, R, de Bakker, P, Dedoussis, G, Ferrucci, L, Franks, P, Froguel, P, Groop, L, Haiman, C, Hamsten, A, Hayes, M, Hui, J, Hunter, D, Hveem, K, Jukema, J, Kaplan, R, Kivimaki, M, Kuh, D, Laakso, M, Liu, Y, Martin, N, März, W, Melbye, M, Moebus, S, Munroe, P, Njølstad, I, Oostra, B, Pedersen, N, Perola, M, Pérusse, L, Peters, U, Powell, J, Power, C, Quertermous, T, Rauramaa, R, Reinmaa, E, Ridker, P, Rivadeneira, F, Rotter, J, Saaristo, T, Saleheen, D, Schlessinger, D, Slagboom, P, Snieder, H, Spector, T, Strauch, K, Stumvoll, M, Tuomilehto, J, Uusitupa, M, van der Harst, P, Völzke, H, Walker, M, Wareham, N, Watkins, H, Wichmann, H, Wilson, J, Zanen, P, Deloukas, P, Heid, I, Lindgren, C, Mohlke, K, Thorsteinsdottir, U, Barroso, I, Fox, C, North, K, Strachan, D, Beckmann, J, Berndt, S, Borecki, I, Mccarthy, M, Metspalu, A, Stefansson, K, Uitterlinden, A, van Duijn, C, Willer, C, Price, A, Lettre, G, Loos, R, Weedon, M, Ingelsson, E, O'Connell, J, Abecasis, G, Chasman, D, Goddard, M, Visscher, P, Pers TH, Karjalainen JM, Chan Y, Westra HJ, Wood AR, Yang J, Lui JC, Vedantam S, Gustafsson S, Esko T, Frayling T, Speliotes EK, Boehnke M, Raychaudhuri S, Fehrmann RS, Hirschhorn JN, Franke L, Chu AY, Estrada K, Luan J, Kutalik Z, Amin N, Buchkovich ML, Croteau Chonka DC, Day FR, Duan Y, Fall T, Fehrmann R, Ferreira T, Jackson AU, Karjalainen J, Lo KS, Locke AE, Mägi R, Mihailov E, Porcu E, Randall JC, Scherag A, Vinkhuyzen AA, Winkler TW, Workalemahu T, Zhao JH, Absher D, Albrecht E, Anderson D, Baron J, Beekman M, Demirkan A, Ehret GB, Feenstra B, Feitosa MF, Fischer K, Fraser RM, Goel A, Gong J, Justice E, Kanoni S, Kleber ME, Kristiansson K, Lim U, Lotay V, Mangino M, Mateo Leach I, Medina Gomez C, Nalls MA, Nyholt DR, Palmer CD, Pasko D, Pechlivanis S, Prokopenko I, Ried JS, Ripke S, Shungin D, Stancáková A, Strawbridge RJ, Sung YJ, Tanaka T, Teumer A, Trompet S, van der Laan SW, van Setten J, Van Vliet Ostaptchouk JV, Wang Z, Yengo L, Zhang W, Afzal U, Ärnlöv J, Arscott GM, Bandinelli S, Barrett A, Bellis C, Bennett AJ, Berne C, Blüher M, Bolton JL, Böttcher Y, Boyd HA, Bruinenberg M, Buckley BM, Buyske S, Caspersen IH, Chines PS, Clarke R, Claudi Boehm S, Cooper M, Daw EW, De Jong A, Deelen J, Delgado G, Denny JC, Dhonukshe Rutten R, Dimitriou M, Doney AS, Dörr M, Eklund N, Eury E, Folkersen L, Garcia ME, Geller F, Giedraitis V, Go AS, Grallert H, Grammer TB, Gräßler J, Grönberg H, de Groot LC, Groves CJ, Haessler J, Haller T, Hallmans G, Hannemann A, Hartman CA, Hassinen M, Hayward C, Heard Costa NL, Helmer Q, Hemani G, Henders AK, Hillege HL, Hlatky MA, Hoffmann W, Hoffmann P, Holmen O, Houwing Duistermaat JJ, Illig T, Isaacs A, James AL, Jeff J, Johansen B, Johansson Å, Jolley J, Juliusdottir T, Junttila J, Kho AN, Kinnunen L, Klopp N, Kocher T, Kratzer W, Lichtner P, Lind L, Lindström J, Lobbens S, Lorentzon M, Lu Y, Lyssenko V, Magnusson PK, Mahajan A, Maillard M, McArdle WL, McKenzie CA, McLachlan S, McLaren PJ, Menni C, Merger S, Milani L, Moayyeri A, Monda KL, Morken MA, Müller G, Müller Nurasyid M, Musk AW, Narisu N, Nauck M, Nolte IM, Nöthen MM, Oozageer L, Pilz S, Rayner NW, Renstrom F, Robertson NR, Rose LM, Roussel R, Sanna S, Scharnagl H, Scholtens S, Schumacher FR, Schunkert H, Scott RA, Sehmi J, Seufferlein T, Shi J, Silventoinen K, Smit JH, Smith AV, Smolonska J, Stanton AV, Stirrups K, Stott DJ, Stringham HM, Sundström J, Swertz MA, Syvänen AC, Tayo BO, Thorleifsson G, Tyrer JP, van Dijk S, van Schoor NM, van der Velde N, van Heemst D, van Oort FV, Vermeulen SH, Verweij N, Vonk JM, Waite LL, Waldenberger M, Wennauer R, Wilkens LR, Willenborg C, Wilsgaard T, Wojczynski MK, Wong A, Wright AF, Zhang Q, Arveiler D, Bakker SJ, Beilby J, Bergman RN, Bergmann S, Biffar R, Blangero J, Boomsma I, Bornstein SR, Bovet P, BRAMBILLA, PAOLO, Brown MJ, Campbell H, Caulfield MJ, Chakravarti A, Collins R, Collins FS, Crawford DC, Cupples LA, Danesh J, de Faire U, den Ruijter HM, Erbel R, Erdmann J, Eriksson JG, Farrall M, Ferrannini E, Ferrières J, Ford I, Forouhi NG, Forrester T, Gansevoort RT, Gejman PV, Gieger C, Golay A, Gottesman O, Gudnason V, Gyllensten U, Haas DW, Hall AS, Harris TB, Hattersley AT, Heath AC, Hengstenberg C, Hicks AA, Hindorff LA, Hingorani AD, Hofman A, Hovingh GK, Humphries SE, Hunt SC, Hypponen E, Jacobs KB, Jarvelin MR, Jousilahti P, Jula AM, Kaprio J, Kastelein JJ, Kayser M, Kee F, Keinanen Kiukaanniemi SM, Kiemeney LA, Kooner JS, Kooperberg C, Koskinen S, Kovacs P, Kraja AT, Kumari M, Kuusisto J, Lakka TA, Langenberg C, Le Marchand L, Lehtimäki T, Lupoli S, Madden PA, Männistö S, Manunta P, Marette A, Matise TC, McKnight B, Meitinger T, Moll FL, Montgomery GW, Morris AD, Morris AP, Murray JC, Nelis M, Ohlsson C, Oldehinkel AJ, Ong KK, Ouwehand WH, Pasterkamp G, Peters A, Pramstaller PP, Price JF, Qi L, Raitakari OT, Rankinen T, Rao DC, Rice TK, Ritchie M, Rudan I, Salomaa V, Samani NJ, Saramies J, Sarzynski MA, Schwarz PE, Sebert S, Sever P, Shuldiner AR, Sinisalo J, Steinthorsdottir V, Stolk RP, Tardif JC, Tönjes A, Tremblay A, Tremoli E, Virtamo J, Vohl MC, Amouyel P, Asselbergs FW, Assimes TL, Bochud M, Boehm BO, Boerwinkle E, Bottinger EP, Bouchard C, Cauchi S, Chambers JC, Chanock SJ, Cooper RS, de Bakker PI, Dedoussis G, Ferrucci L, Franks PW, Froguel P, Groop LC, Haiman CA, Hamsten A, Hayes MG, Hui J, Hunter DJ, Hveem K, Jukema JW, Kaplan RC, Kivimaki M, Kuh D, Laakso M, Liu Y, Martin NG, März W, Melbye M, Moebus S, Munroe PB, Njølstad I, Oostra BA, Palmer CN, Pedersen NL, Perola M, Pérusse L, Peters U, Powell JE, Power C, Quertermous T, Rauramaa R, Reinmaa E, Ridker PM, Rivadeneira F, Rotter JI, Saaristo TE, Saleheen D, Schlessinger D, Slagboom PE, Snieder H, Spector TD, Strauch K, Stumvoll M, Tuomilehto J, Uusitupa M, van der Harst P, Völzke H, Walker M, Wareham NJ, Watkins H, Wichmann HE, Wilson JF, Zanen P, Deloukas P, Heid IM, Lindgren CM, Mohlke KL, Thorsteinsdottir U, Barroso I, Fox CS, North KE, Strachan DP, Beckmann JS, Berndt SI, Borecki IB, McCarthy MI, Metspalu A, Stefansson K, Uitterlinden AG, van Duijn CM, Willer CJ, Price AL, Lettre G, Loos RJ, Weedon MN, Ingelsson E, O'Connell JR, Abecasis GR, Chasman DI, Goddard ME, Visscher PM, Frayling T.M., Pers, T, Karjalainen, J, Chan, Y, Westra, H, Wood, A, Yang, J, Lui, J, Vedantam, S, Gustafsson, S, Esko, T, Frayling, T, Speliotes, E, Boehnke, M, Raychaudhuri, S, Fehrmann, R, Hirschhorn, J, Franke, L, Chu, A, Estrada, K, Luan, J, Kutalik, Z, Amin, N, Buchkovich, M, Croteau Chonka, D, Day, F, Duan, Y, Fall, T, Ferreira, T, Jackson, A, Lo, K, Locke, A, Mägi, R, Mihailov, E, Porcu, E, Randall, J, Scherag, A, Vinkhuyzen, A, Winkler, T, Workalemahu, T, Zhao, J, Absher, D, Albrecht, E, Anderson, D, Baron, J, Beekman, M, Demirkan, A, Ehret, G, Feenstra, B, Feitosa, M, Fischer, K, Fraser, R, Goel, A, Gong, J, Justice, E, Kanoni, S, Kleber, M, Kristiansson, K, Lim, U, Lotay, V, Mangino, M, Mateo Leach, I, Medina Gomez, C, Nalls, M, Nyholt, D, Palmer, C, Pasko, D, Pechlivanis, S, Prokopenko, I, Ried, J, Ripke, S, Shungin, D, Stancáková, A, Strawbridge, R, Sung, Y, Tanaka, T, Teumer, A, Trompet, S, van der Laan, S, van Setten, J, Van Vliet Ostaptchouk, J, Wang, Z, Yengo, L, Zhang, W, Afzal, U, Ärnlöv, J, Arscott, G, Bandinelli, S, Barrett, A, Bellis, C, Bennett, A, Berne, C, Blüher, M, Bolton, J, Böttcher, Y, Boyd, H, Bruinenberg, M, Buckley, B, Buyske, S, Caspersen, I, Chines, P, Clarke, R, Claudi Boehm, S, Cooper, M, Daw, E, De Jong, A, Deelen, J, Delgado, G, Denny, J, Dhonukshe Rutten, R, Dimitriou, M, Doney, A, Dörr, M, Eklund, N, Eury, E, Folkersen, L, Garcia, M, Geller, F, Giedraitis, V, Go, A, Grallert, H, Grammer, T, Gräßler, J, Grönberg, H, de Groot, L, Groves, C, Haessler, J, Haller, T, Hallmans, G, Hannemann, A, Hartman, C, Hassinen, M, Hayward, C, Heard Costa, N, Helmer, Q, Hemani, G, Henders, A, Hillege, H, Hlatky, M, Hoffmann, W, Hoffmann, P, Holmen, O, Houwing Duistermaat, J, Illig, T, Isaacs, A, James, A, Jeff, J, Johansen, B, Johansson, Å, Jolley, J, Juliusdottir, T, Junttila, J, Kho, A, Kinnunen, L, Klopp, N, Kocher, T, Kratzer, W, Lichtner, P, Lind, L, Lindström, J, Lobbens, S, Lorentzon, M, Lu, Y, Lyssenko, V, Magnusson, P, Mahajan, A, Maillard, M, Mcardle, W, Mckenzie, C, Mclachlan, S, Mclaren, P, Menni, C, Merger, S, Milani, L, Moayyeri, A, Monda, K, Morken, M, Müller, G, Müller Nurasyid, M, Musk, A, Narisu, N, Nauck, M, Nolte, I, Nöthen, M, Oozageer, L, Pilz, S, Rayner, N, Renstrom, F, Robertson, N, Rose, L, Roussel, R, Sanna, S, Scharnagl, H, Scholtens, S, Schumacher, F, Schunkert, H, Scott, R, Sehmi, J, Seufferlein, T, Shi, J, Silventoinen, K, Smit, J, Smith, A, Smolonska, J, Stanton, A, Stirrups, K, Stott, D, Stringham, H, Sundström, J, Swertz, M, Syvänen, A, Tayo, B, Thorleifsson, G, Tyrer, J, van Dijk, S, van Schoor, N, van der Velde, N, van Heemst, D, van Oort, F, Vermeulen, S, Verweij, N, Vonk, J, Waite, L, Waldenberger, M, Wennauer, R, Wilkens, L, Willenborg, C, Wilsgaard, T, Wojczynski, M, Wong, A, Wright, A, Zhang, Q, Arveiler, D, Bakker, S, Beilby, J, Bergman, R, Bergmann, S, Biffar, R, Blangero, J, Boomsma, I, Bornstein, S, Bovet, P, Brambilla, P, Brown, M, Campbell, H, Caulfield, M, Chakravarti, A, Collins, R, Collins, F, Crawford, D, Cupples, L, Danesh, J, de Faire, U, den Ruijter, H, Erbel, R, Erdmann, J, Eriksson, J, Farrall, M, Ferrannini, E, Ferrières, J, Ford, I, Forouhi, N, Forrester, T, Gansevoort, R, Gejman, P, Gieger, C, Golay, A, Gottesman, O, Gudnason, V, Gyllensten, U, Haas, D, Hall, A, Harris, T, Hattersley, A, Heath, A, Hengstenberg, C, Hicks, A, Hindorff, L, Hingorani, A, Hofman, A, Hovingh, G, Humphries, S, Hunt, S, Hypponen, E, Jacobs, K, Jarvelin, M, Jousilahti, P, Jula, A, Kaprio, J, Kastelein, J, Kayser, M, Kee, F, Keinanen Kiukaanniemi, S, Kiemeney, L, Kooner, J, Kooperberg, C, Koskinen, S, Kovacs, P, Kraja, A, Kumari, M, Kuusisto, J, Lakka, T, Langenberg, C, Le Marchand, L, Lehtimäki, T, Lupoli, S, Madden, P, Männistö, S, Manunta, P, Marette, A, Matise, T, Mcknight, B, Meitinger, T, Moll, F, Montgomery, G, Morris, A, Murray, J, Nelis, M, Ohlsson, C, Oldehinkel, A, Ong, K, Ouwehand, W, Pasterkamp, G, Peters, A, Pramstaller, P, Price, J, Qi, L, Raitakari, O, Rankinen, T, Rao, D, Rice, T, Ritchie, M, Rudan, I, Salomaa, V, Samani, N, Saramies, J, Sarzynski, M, Schwarz, P, Sebert, S, Sever, P, Shuldiner, A, Sinisalo, J, Steinthorsdottir, V, Stolk, R, Tardif, J, Tönjes, A, Tremblay, A, Tremoli, E, Virtamo, J, Vohl, M, Amouyel, P, Asselbergs, F, Assimes, T, Bochud, M, Boehm, B, Boerwinkle, E, Bottinger, E, Bouchard, C, Cauchi, S, Chambers, J, Chanock, S, Cooper, R, de Bakker, P, Dedoussis, G, Ferrucci, L, Franks, P, Froguel, P, Groop, L, Haiman, C, Hamsten, A, Hayes, M, Hui, J, Hunter, D, Hveem, K, Jukema, J, Kaplan, R, Kivimaki, M, Kuh, D, Laakso, M, Liu, Y, Martin, N, März, W, Melbye, M, Moebus, S, Munroe, P, Njølstad, I, Oostra, B, Pedersen, N, Perola, M, Pérusse, L, Peters, U, Powell, J, Power, C, Quertermous, T, Rauramaa, R, Reinmaa, E, Ridker, P, Rivadeneira, F, Rotter, J, Saaristo, T, Saleheen, D, Schlessinger, D, Slagboom, P, Snieder, H, Spector, T, Strauch, K, Stumvoll, M, Tuomilehto, J, Uusitupa, M, van der Harst, P, Völzke, H, Walker, M, Wareham, N, Watkins, H, Wichmann, H, Wilson, J, Zanen, P, Deloukas, P, Heid, I, Lindgren, C, Mohlke, K, Thorsteinsdottir, U, Barroso, I, Fox, C, North, K, Strachan, D, Beckmann, J, Berndt, S, Borecki, I, Mccarthy, M, Metspalu, A, Stefansson, K, Uitterlinden, A, van Duijn, C, Willer, C, Price, A, Lettre, G, Loos, R, Weedon, M, Ingelsson, E, O'Connell, J, Abecasis, G, Chasman, D, Goddard, M, Visscher, P, Pers TH, Karjalainen JM, Chan Y, Westra HJ, Wood AR, Yang J, Lui JC, Vedantam S, Gustafsson S, Esko T, Frayling T, Speliotes EK, Boehnke M, Raychaudhuri S, Fehrmann RS, Hirschhorn JN, Franke L, Chu AY, Estrada K, Luan J, Kutalik Z, Amin N, Buchkovich ML, Croteau Chonka DC, Day FR, Duan Y, Fall T, Fehrmann R, Ferreira T, Jackson AU, Karjalainen J, Lo KS, Locke AE, Mägi R, Mihailov E, Porcu E, Randall JC, Scherag A, Vinkhuyzen AA, Winkler TW, Workalemahu T, Zhao JH, Absher D, Albrecht E, Anderson D, Baron J, Beekman M, Demirkan A, Ehret GB, Feenstra B, Feitosa MF, Fischer K, Fraser RM, Goel A, Gong J, Justice E, Kanoni S, Kleber ME, Kristiansson K, Lim U, Lotay V, Mangino M, Mateo Leach I, Medina Gomez C, Nalls MA, Nyholt DR, Palmer CD, Pasko D, Pechlivanis S, Prokopenko I, Ried JS, Ripke S, Shungin D, Stancáková A, Strawbridge RJ, Sung YJ, Tanaka T, Teumer A, Trompet S, van der Laan SW, van Setten J, Van Vliet Ostaptchouk JV, Wang Z, Yengo L, Zhang W, Afzal U, Ärnlöv J, Arscott GM, Bandinelli S, Barrett A, Bellis C, Bennett AJ, Berne C, Blüher M, Bolton JL, Böttcher Y, Boyd HA, Bruinenberg M, Buckley BM, Buyske S, Caspersen IH, Chines PS, Clarke R, Claudi Boehm S, Cooper M, Daw EW, De Jong A, Deelen J, Delgado G, Denny JC, Dhonukshe Rutten R, Dimitriou M, Doney AS, Dörr M, Eklund N, Eury E, Folkersen L, Garcia ME, Geller F, Giedraitis V, Go AS, Grallert H, Grammer TB, Gräßler J, Grönberg H, de Groot LC, Groves CJ, Haessler J, Haller T, Hallmans G, Hannemann A, Hartman CA, Hassinen M, Hayward C, Heard Costa NL, Helmer Q, Hemani G, Henders AK, Hillege HL, Hlatky MA, Hoffmann W, Hoffmann P, Holmen O, Houwing Duistermaat JJ, Illig T, Isaacs A, James AL, Jeff J, Johansen B, Johansson Å, Jolley J, Juliusdottir T, Junttila J, Kho AN, Kinnunen L, Klopp N, Kocher T, Kratzer W, Lichtner P, Lind L, Lindström J, Lobbens S, Lorentzon M, Lu Y, Lyssenko V, Magnusson PK, Mahajan A, Maillard M, McArdle WL, McKenzie CA, McLachlan S, McLaren PJ, Menni C, Merger S, Milani L, Moayyeri A, Monda KL, Morken MA, Müller G, Müller Nurasyid M, Musk AW, Narisu N, Nauck M, Nolte IM, Nöthen MM, Oozageer L, Pilz S, Rayner NW, Renstrom F, Robertson NR, Rose LM, Roussel R, Sanna S, Scharnagl H, Scholtens S, Schumacher FR, Schunkert H, Scott RA, Sehmi J, Seufferlein T, Shi J, Silventoinen K, Smit JH, Smith AV, Smolonska J, Stanton AV, Stirrups K, Stott DJ, Stringham HM, Sundström J, Swertz MA, Syvänen AC, Tayo BO, Thorleifsson G, Tyrer JP, van Dijk S, van Schoor NM, van der Velde N, van Heemst D, van Oort FV, Vermeulen SH, Verweij N, Vonk JM, Waite LL, Waldenberger M, Wennauer R, Wilkens LR, Willenborg C, Wilsgaard T, Wojczynski MK, Wong A, Wright AF, Zhang Q, Arveiler D, Bakker SJ, Beilby J, Bergman RN, Bergmann S, Biffar R, Blangero J, Boomsma I, Bornstein SR, Bovet P, BRAMBILLA, PAOLO, Brown MJ, Campbell H, Caulfield MJ, Chakravarti A, Collins R, Collins FS, Crawford DC, Cupples LA, Danesh J, de Faire U, den Ruijter HM, Erbel R, Erdmann J, Eriksson JG, Farrall M, Ferrannini E, Ferrières J, Ford I, Forouhi NG, Forrester T, Gansevoort RT, Gejman PV, Gieger C, Golay A, Gottesman O, Gudnason V, Gyllensten U, Haas DW, Hall AS, Harris TB, Hattersley AT, Heath AC, Hengstenberg C, Hicks AA, Hindorff LA, Hingorani AD, Hofman A, Hovingh GK, Humphries SE, Hunt SC, Hypponen E, Jacobs KB, Jarvelin MR, Jousilahti P, Jula AM, Kaprio J, Kastelein JJ, Kayser M, Kee F, Keinanen Kiukaanniemi SM, Kiemeney LA, Kooner JS, Kooperberg C, Koskinen S, Kovacs P, Kraja AT, Kumari M, Kuusisto J, Lakka TA, Langenberg C, Le Marchand L, Lehtimäki T, Lupoli S, Madden PA, Männistö S, Manunta P, Marette A, Matise TC, McKnight B, Meitinger T, Moll FL, Montgomery GW, Morris AD, Morris AP, Murray JC, Nelis M, Ohlsson C, Oldehinkel AJ, Ong KK, Ouwehand WH, Pasterkamp G, Peters A, Pramstaller PP, Price JF, Qi L, Raitakari OT, Rankinen T, Rao DC, Rice TK, Ritchie M, Rudan I, Salomaa V, Samani NJ, Saramies J, Sarzynski MA, Schwarz PE, Sebert S, Sever P, Shuldiner AR, Sinisalo J, Steinthorsdottir V, Stolk RP, Tardif JC, Tönjes A, Tremblay A, Tremoli E, Virtamo J, Vohl MC, Amouyel P, Asselbergs FW, Assimes TL, Bochud M, Boehm BO, Boerwinkle E, Bottinger EP, Bouchard C, Cauchi S, Chambers JC, Chanock SJ, Cooper RS, de Bakker PI, Dedoussis G, Ferrucci L, Franks PW, Froguel P, Groop LC, Haiman CA, Hamsten A, Hayes MG, Hui J, Hunter DJ, Hveem K, Jukema JW, Kaplan RC, Kivimaki M, Kuh D, Laakso M, Liu Y, Martin NG, März W, Melbye M, Moebus S, Munroe PB, Njølstad I, Oostra BA, Palmer CN, Pedersen NL, Perola M, Pérusse L, Peters U, Powell JE, Power C, Quertermous T, Rauramaa R, Reinmaa E, Ridker PM, Rivadeneira F, Rotter JI, Saaristo TE, Saleheen D, Schlessinger D, Slagboom PE, Snieder H, Spector TD, Strauch K, Stumvoll M, Tuomilehto J, Uusitupa M, van der Harst P, Völzke H, Walker M, Wareham NJ, Watkins H, Wichmann HE, Wilson JF, Zanen P, Deloukas P, Heid IM, Lindgren CM, Mohlke KL, Thorsteinsdottir U, Barroso I, Fox CS, North KE, Strachan DP, Beckmann JS, Berndt SI, Borecki IB, McCarthy MI, Metspalu A, Stefansson K, Uitterlinden AG, van Duijn CM, Willer CJ, Price AL, Lettre G, Loos RJ, Weedon MN, Ingelsson E, O'Connell JR, Abecasis GR, Chasman DI, Goddard ME, Visscher PM, and Frayling T.M.
Abstract: The main challenge for gaining biological insights from genetic associations is identifying which genes and pathways explain the associations. Here we present DEPICT, an integrative tool that employs predicted gene functions to systematically prioritize the most likely causal genes at associated loci, highlight enriched pathways and identify tissues/cell types where genes from associated loci are highly expressed. DEPICT is not limited to genes with established functions and prioritizes relevant gene sets for many phenotypes.
Published: 2015

108. V13-08 ROBOT-ASSISTED TRANS-VESICAL ANTERIOR INLAY OF BUCCAL MUCOSAL GRAFT FOR RECURRENT BLADDER NECK CONTRACTURE.

Author: Freton, Lucas, Zhao, Lee, Graffeille, Vivien, Richard, Claire, Hascoet, Juliette, Jeanne-Julien, Antoine, Manunta, Andrea, Mathieu, Romain, Bensalah, Karim, and Peyronnet, Benoit
Subjects: BLADDER obstruction, URETHROPLASTY, BENIGN prostatic hyperplasia, TRANSURETHRAL prostatectomy, URINARY tract infections
Published: 2024
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109. P2.05: are Retinal Microvascular Phenotypes Associated with 1675G/A Polymorphism in Angiotensin Ii Receptor-2 Gene?

Author: Liu, Y., Kuznetsova, T., Thijs, L., Jin, Y., Schmitz, B., Brand, S. M., Brand, E., Manunta, P., Bianchi, G., Struijker-Boudier, H., and Staessen, J. A.
Published: 2011
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110. Réfection d'anastomose urétéro-iléale pour sténose chez les patients ayant une dérivation par conduit iléal (Bricker) ou une néo-vessie : comparaison des voies ouverte et robotique.

Author: Wandoren, W., Chapuis, M., Haudebert, C., Hascoet, J., Khene, Z., Vesval, Q., Freton, L., Mathieu, R., Bensalah, K., Manunta, A., Verhoest, G., and Peyronnet, B.
Abstract: Copyright of Proges en Urologie is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Published: 2023
Full Text: View/download PDF

111. Implantation de sphincter urinaire artificiel chez la femme par voie robot assistée : résultats sur la qualité de vie et les symptômes rapportés par les patientes.

Author: Dubois, A., Lethuillier, V., Berthelot, L., Richard, C., Haudebert, C., Voiry, C., Freton, L., Hascoet, J., Manunta, A., and Benoît, P.
Abstract: Copyright of Proges en Urologie is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Published: 2023
Full Text: View/download PDF

112. Investigating ground instabilities in Sumatra and Java islands by integrating SAR Interferometry and GNSS

Author: Bovenga, F., Refice, A., Belmonte, A., Nutricato, R., Nitti, D. O., Chiaradia, M. T., Ganas, A., Manunta, P., Elizar, E., and Bally, P.
Published: 2017

113. Tolvaptan in Later-Stage Autosomal Dominant Polycystic Kidney Disease

Author: Torres, Vicente E., Chapman, Arlene B., Devuyst, Olivier, Gansevoort, Ron T., Perrone, Ronald D., Koch, Gary, Ouyang, John, Mcquade, Robert D., Blais, Jaime D., Czerwiec, Frank S., Sergeyeva, Olga, Reprise, Trial Investigators, Cowley, B., Goldstein, S., Chertow, G., Wei, L., Alpers, D. H., Freston, J., Lewis, J. H., Hunt, C. M., La Fuente, J., Vallejos, A., Beresan, H. M., Diaz, H. C., Wasserman, A., Martin, R. S., Rial, M., Cusumano, A. M., Novoa, P. A., Mele, P., Raffaele, P., Fraser, I., Rangan, G., Mathew, M., Cooper, B., Faull, R., Holt, S., Snelling, P., Jardine, M., Thomas, M., Packham, D., Vilayur, E., Johnson, D., Niepen, P., Peeters, P., Bammens, B., Warling, X., Vlem, B., Doubel, P., Hellemans, R., Bichet, D., Pei, Y., Chow, S., Mcmahon, A., Murphy, S., Mcfarlane, P., Ting, R., Tesar, V., Ryba, M., Peskova, M., Oplustilova, A., Dusilova Sulkova, S., Tocik, J., Suchanova, J., Viklicky, O., Rehorova, J., Valkovsky, I., Dieperink, H., Birn, H., Bech, J., Christensen, J., Zaoui, P., Pouteil-Noble, C., Combe, C., Kessler, M., Lemeur, Y., Mariat, C., Chauveau, D., Laville, M., Rieu, P., Fauvel, J. P., Dellanna, F., Gross, P., Renders, L., Budde, K., Sommerer, C., Strutz, F., Hugo, C., Guberina, H., Leidig, M., Csiky, B., Haris, A., Ondrik, Z., Kukuy, O., Ben-Dov, I., Yagil, Y., Schwartz, D., Dijk, D., Kristal, B., Capasso, G., Capelli, G., Cerutti, R., Esposito, C., Frascà, G., Gesualdo, L., Mancini, E., Manunta, P., Pontoriero, G., Scolari, F., Drenth, J., Apeland, T., Marti, H. P., Stenehjem, A., Klatko, W., Klinger, M., Ksiazek, A., Malecki, R., Nowicki, M., Sulowicz, W., Bako, G., Achim, C., Dragulete, R., Marasaev, V., Nagibovich, O., Rossovskaya, M., Esayan, A., Rayner, B., Latiff, G., Muranda, A., Peces Serrano, R., Nieto Iglesias, J., Hueso Val, M., Praga Terente, M., Castro Alonso, C., Guron, G., Melin, J., Heimbürger, O., Fernström, A., Hellberg, O., Turner, N., D Souza, R., Barratt, J., Mikhail, A., Howse, M., Sayer, J., Shipley, T., Takats, D., sunil bhandari, Ong, A., Hillman, K., Vilar, E., Wood, G., Gale, D., Kingswood, J., Ayub, W., Lambie, S., Al-Saghir, F., Bai, L., Price, D., Dilley, J., Blumenfeld, J., Scott, D., Sothinathan, R., Mehta, B., Kaveh, K., Dahl, N., Haastrup, A., Kopyt, N., Harper, K., Ross, D., El-Shahawy, M., Nachman, P., Bellovich, K., Shirazian, S., Bart, S., Fadem, S., Watnick, T., Oo, T., Rastogi, A., Silva, A., Sullivan, J., Thomas, J., Mrug, M., Nossuli, A., Mcgreal, K., Hariachar, S., Umanath, K., Vernace, M., Rosner, M., Newman, G., Levitski-Heikkila, T., Smith, M., Schmidt, R., Reddy, B., Linfert, D., Roppolo, M., Edelstein, C., Rahbari Oskoui, F., Chonchol, M., Germain, M., Gupta, A., Kant, K., Goldberg, S., Mordujovich, J., Moustafa, M., Lifland, H., Cangiano, J., Visger, J., Negrea, L., Berg, J., Culpepper, M., Goral, S., Radhakrishnan, J., Navarro, J., Ryu, J., Burgner, A., Solomon, R., Venuto, R., Pisoni, R., Charen, E., Chuang, P., Mangoo-Karim, R., Lioudis, M., Cohen, R., Park, M., Delong, M., Siddiqi, S., Bodell, M., Mccune, T., Mandayam, S., Foringer, J., Raina, R., Pitone, J., Quadrini, M., Nwakoby, I., Vo, N., and Liss, K.
Published: 2017

114. Novel Approach Identifies SNPs in SLC2A10 and KCNK9 with Evidence for Parent-of-Origin Effect on Body Mass Index

Author: Hoggart, C, Venturini, G, Mangino, M, Gomez, F, Ascari, G, Zhao, J, Teumer, A, Winkler, T, Tšernikova, N, Luan, J, Mihailov, E, Ehret, G, Zhang, W, Lamparter, D, Esko, T, Macé, A, Rüeger, S, Bochud, P, Barcella, M, Dauvilliers, Y, Benyamin, B, Evans, D, Hayward, C, Lopez, M, Franke, L, Russo, A, Heid, I, Salvi, E, Vendantam, S, Arking, D, Boerwinkle, E, Chambers, J, Fiorito, G, Grallert, H, Guarrera, S, Homuth, G, Huffman, J, Porteous, D, Berg, J, Blackwood, D, Campbell, H, Cavanagh, J, Connell, J, Connor, M, Cunningham Burley, S, Deary, I, Dominiczak, A, Ellis, P, Fitzpatrick, B, Ford, I, Gertz, R, Grau, A, Haddow, G, Jackson, C, Kerr, S, Lindsay, R, Mcgilchrist, M, Mcintyre, D, Morris, A, Morton, R, Muir, W, Murray, G, Palmer, C, Pell, J, Philp, A, Porteous, M, Procter, R, Ralston, S, Reid, D, Sinnott, R, Smith, B, St Clair, D, Sullivan, F, Sweetland, M, Ure, J, Watt, G, Wolf, R, Wright, A, de Bakker, P, Bültmann, U, Geleijnse, M, Harst, P, Koppelman, G, Rosmalen, J, van Rossum, L, Smidt, H, Swertz, M, Stolk, R, Alizadeh, B, de Boer, R, Boezen, H, Bruinenberg, M, van der Harst, P, Hillege, H, van der Klauw, M, Navis, G, Ormel, J, Postma, D, Slaets, J, Snieder, H, Wolffenbuttel, B, Wijmenga, C, Berndt, S, Gustafsson, S, Mägi, R, Ganna, A, Wheeler, E, Feitosa, M, Justice, A, Monda, K, Croteau Chonka, D, Day, F, Fall, T, Ferreira, T, Gentilini, D, Jackson, A, Randall, J, Vedantam, S, Willer, C, Wood, A, Workalemahu, T, Hu, Y, Lee, S, Liang, L, Lin, D, Min, J, Neale, B, Thorleifsson, G, Yang, J, Albrecht, E, Amin, N, Bragg Gresham, J, Cadby, G, den Heijer, M, Eklund, N, Fischer, K, Goel, A, Hottenga, J, Jarick, I, Johansson, A, Johnson, T, Kanoni, S, Kleber, M, König, I, Kristiansson, K, Kutalik, Z, Lamina, C, Lecoeur, C, Li, G, Mcardle, W, Medina Gomez, C, Müller Nurasyid, M, Ngwa, J, Nolte, I, Paternoster, L, Pechlivanis, S, Perola, M, Peters, M, Preuss, M, Rose, L, Shi, J, Shungin, D, Smith, A, Strawbridge, R, Surakka, I, Trip, M, Tyrer, J, Van Vliet Ostaptchouk, J, Vandenput, L, Waite, L, Absher, D, Asselbergs, F, Atalay, M, Attwood, A, Balmforth, A, Basart, H, Beilby, J, Bonnycastle, L, BRAMBILLA, PAOLO, Chasman, D, Chines, P, Collins, F, Cookson, W, de Faire, U, de Vegt, F, Dei, M, Dimitriou, M, Edkins, S, Estrada, K, Farrall, M, Ferrario, M, Ferrières, J, Frau, F, Gejman, P, Grönberg, H, Gudnason, V, Hall, A, Hall, P, Hartikainen, A, Heard Costa, N, Heath, A, Hebebrand, J, Hu, F, Hunt, S, Hyppönen, E, Iribarren, C, Jacobs, K, Jansson, J, Jula, A, Kähönen, M, Kathiresan, S, Kee, F, Khaw, K, Kivimaki, M, Koenig, W, Kraja, A, Kumari, M, Karikuulasmaa, N, Kuusisto, J, Laitinen, J, Lakka, T, Langenberg, C, Launer, L, Lind, L, Lindström, J, Liu, J, Liuzzi, A, Lokki, M, Lorentzon, M, Madden, P, Magnusson, P, Manunta, P, Marek, D, März, W, Leach, I, Mcknight, B, Medland, S, Milani, L, Montgomery, G, Mooser, V, Mühleisen, T, Munroe, P, Musk, A, Narisu, N, Nicholson, G, Nohr, E, Ong, K, Oostra, B, Palotie, A, Peden, J, Pedersen, N, Peters, A, Polasek, O, Pouta, A, Pramstaller, P, Prokopenko, I, Pütter, C, Radhakrishnan, A, Raitakari, O, Rendon, A, Rivadeneira, F, Rudan, I, Saaristo, T, Sambrook, J, Sanders, A, Sanna, S, Saramies, J, Schipf, S, Schreiber, S, Schunkert, H, Shin, S, Signorini, S, Sinisalo, J, Skrobek, B, Soranzo, N, Stancakova, A, Stark, K, Stephens, J, Stirrups, K, Stumvoll, M, Swift, A, Theodoraki, E, Thorand, B, Tregouet, D, Tremoli, E, Van der Klauw, M, van Meurs, J, Vermeulen, S, Viikari, J, Virtamo, J, Vitart, V, Waeber, G, Wang, Z, Widen, E, Wild, S, Willemsen, G, Winkelmann, B, Witteman, J, Wong, A, Zillikens, M, Amouyel, P, Boehm, B, Boomsma, D, Caulfield, M, Chanock, S, Cupples, L, Cusi, D, Dedoussis, G, Erdmann, J, Eriksson, J, Franks, P, Froguel, P, Gieger, C, Gyllensten, U, Hamsten, A, Harris, T, Hengstenberg, C, Hicks, A, Hingorani, A, Hinney, A, Hofman, A, Hovingh, K, Hveem, K, Illig, T, Jarvelin, M, Jöckel, K, Keinanen Kiukaanniemi, S, Kiemeney, L, Kuh, D, Laakso, M, Lehtimäki, T, Levinson, D, Martin, N, Metspalu, A, Nieminen, M, Njølstad, I, Ohlsson, C, Oldehinkel, A, Ouwehand, W, Palmer, L, Penninx, B, Power, C, Province, M, Psaty, B, Qi, L, Rauramaa, R, Ridker, P, Ripatti, S, Salomaa, V, Samani, N, Sørensen, T, Spector, T, Stefansson, K, Tönjes, A, Tuomilehto, J, Uitterlinden, A, Uusitupa, M, Vollenweider, P, Wallaschofski, H, Wareham, N, Watkins, H, Wichmann, H, Wilson, J, Abecasis, G, Assimes, T, Barroso, I, Boehnke, M, Borecki, I, Deloukas, P, Fox, C, Frayling, T, Groop, L, Haritunian, T, Hunter, D, Kaplan, R, Karpe, F, Miriammoffatt, N, Mohlke, K, O'Connell, J, Pawitan, Y, Schadt, E, Schlessinger, D, Steinthorsdottir, V, Strachan, D, Thorsteinsdottir, U, van Duijn, C, Visscher, P, Di Blasio, A, Hirschhorn, J, Lindgren, C, Meyre, D, Scherag, A, Mccarthy, M, Speliotes, E, North, K, Loos, R, Ingelsson, E, Moradpour, D, Iranzo, A, Kemp, J, Lammers, G, Aubert, V, Heim, M, Peraita Adrados, R, Santamaria, J, Negro, F, Schmidt, C, Scott, R, Strauch, K, Völzke, H, Yuan, W, Bell, J, Chakravarti, A, Kooner, J, Matullo, G, Whitfield, J, Paccaud, F, Bergmann, S, Beckmann, J, Tafti, M, Hastie, N, Bochud, M, Da Smith, G, Rousson, V, Rivolta, C, Kutalik, Z., Stem Cell Aging Leukemia and Lymphoma (SALL), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Biological Psychology, EMGO+ - Lifestyle, Overweight and Diabetes, Hoggart, Clive J, Venturini, Giulia, Mangino, Massimo, Gomez, Felicia, Benyamin, Beben, Kutalik, Zoltan, Generation Scotland Consortium, GIANT Consortium, LifeLines Cohort study, Cardiology, Vascular Medicine, Plastic, Reconstructive and Hand Surgery, Amsterdam Cardiovascular Sciences, Medical Research Council (MRC), Psychiatry, EMGO - Lifestyle, overweight and diabetes, Haartman Institute (-2014), Transplantation Laboratory, Luan, Jian'an [0000-0003-3137-6337], Wareham, Nicholas [0000-0003-1422-2993], Apollo - University of Cambridge Repository, Hoggart, Cj, Venturini, G, Mangino, M, Gomez, F, Ascari, G, Zhao, Jh, Teumer, A, Winkler, Tw, Tšernikova, N, Luan, J, Mihailov, E, Ehret, Gb, Zhang, W, Lamparter, D, Esko, T, Macé, A, Rüeger, S, Bochud, Py, Barcella, M, Dauvilliers, Y, Benyamin, B, Evans, Dm, Hayward, C, Lopez, Mf, Franke, L, Russo, A, Heid, Im, Salvi, E, Vendantam, S, Arking, De, Boerwinkle, E, Chambers, Jc, Fiorito, G, Grallert, H, Guarrera, S, Homuth, G, Huffman, Je, Porteous, D, GENERATION SCOTLAND, Consortium, LIFELINES COHORT, Study, Giant, Consortium, Manunta, Paolo, Moradpour, D, Iranzo, A, Hebebrand, J, Kemp, Jp, Lammers, Gj, Aubert, V, Heim, Mh, Martin, Ng, Montgomery, Gw, PERAITA ADRADOS, R, Santamaria, J, Negro, F, Schmidt, Co, Scott, Ra, Spector, Td, Strauch, K, Völzke, H, Wareham, Nj, Yuan, W, Bell, Jt, Chakravarti, A, Kooner, J, Peters, A, Matullo, G, Wallaschofski, H, Whitfield, Jb, Paccaud, F, Vollenweider, P, Bergmann, S, Beckmann, J, Tafti, M, Hastie, Nd, Cusi, D, Bochud, M, Frayling, Tm, Metspalu, A, Jarvelin, Mr, Scherag, A, Smith, Gd, Borecki, Ib, Rousson, V, Hirschhorn, Jn, Rivolta, C, Loos, Rj, Kutalik, Z., Hoggart, C, Zhao, J, Winkler, T, Ehret, G, Bochud, P, Evans, D, Lopez, M, Heid, I, Arking, D, Chambers, J, Huffman, J, Berg, J, Blackwood, D, Campbell, H, Cavanagh, J, Connell, J, Connor, M, Cunningham Burley, S, Deary, I, Dominiczak, A, Ellis, P, Fitzpatrick, B, Ford, I, Gertz, R, Grau, A, Haddow, G, Jackson, C, Kerr, S, Lindsay, R, Mcgilchrist, M, Mcintyre, D, Morris, A, Morton, R, Muir, W, Murray, G, Palmer, C, Pell, J, Philp, A, Porteous, M, Procter, R, Ralston, S, Reid, D, Sinnott, R, Smith, B, St Clair, D, Sullivan, F, Sweetland, M, Ure, J, Watt, G, Wolf, R, Wright, A, de Bakker, P, Bültmann, U, Geleijnse, M, Harst, P, Koppelman, G, Rosmalen, J, van Rossum, L, Smidt, H, Swertz, M, Stolk, R, Alizadeh, B, de Boer, R, Boezen, H, Bruinenberg, M, van der Harst, P, Hillege, H, van der Klauw, M, Navis, G, Ormel, J, Postma, D, Slaets, J, Snieder, H, Wolffenbuttel, B, Wijmenga, C, Berndt, S, Gustafsson, S, Mägi, R, Ganna, A, Wheeler, E, Feitosa, M, Justice, A, Monda, K, Croteau Chonka, D, Day, F, Fall, T, Ferreira, T, Gentilini, D, Jackson, A, Randall, J, Vedantam, S, Willer, C, Wood, A, Workalemahu, T, Hu, Y, Lee, S, Liang, L, Lin, D, Min, J, Neale, B, Thorleifsson, G, Yang, J, Albrecht, E, Amin, N, Bragg Gresham, J, Cadby, G, den Heijer, M, Eklund, N, Fischer, K, Goel, A, Hottenga, J, Jarick, I, Johansson, A, Johnson, T, Kanoni, S, Kleber, M, König, I, Kristiansson, K, Kutalik, Z, Lamina, C, Lecoeur, C, Li, G, Mcardle, W, Medina Gomez, C, Müller Nurasyid, M, Ngwa, J, Nolte, I, Paternoster, L, Pechlivanis, S, Perola, M, Peters, M, Preuss, M, Rose, L, Shi, J, Shungin, D, Smith, A, Strawbridge, R, Surakka, I, Trip, M, Tyrer, J, Van Vliet Ostaptchouk, J, Vandenput, L, Waite, L, Absher, D, Asselbergs, F, Atalay, M, Attwood, A, Balmforth, A, Basart, H, Beilby, J, Bonnycastle, L, Brambilla, P, Chasman, D, Chines, P, Collins, F, Cookson, W, de Faire, U, de Vegt, F, Dei, M, Dimitriou, M, Edkins, S, Estrada, K, Farrall, M, Ferrario, M, Ferrières, J, Frau, F, Gejman, P, Grönberg, H, Gudnason, V, Hall, A, Hall, P, Hartikainen, A, Heard Costa, N, Heath, A, Hu, F, Hunt, S, Hyppönen, E, Iribarren, C, Jacobs, K, Jansson, J, Jula, A, Kähönen, M, Kathiresan, S, Kee, F, Khaw, K, Kivimaki, M, Koenig, W, Kraja, A, Kumari, M, Karikuulasmaa, N, Kuusisto, J, Laitinen, J, Lakka, T, Langenberg, C, Launer, L, Lind, L, Lindström, J, Liu, J, Liuzzi, A, Lokki, M, Lorentzon, M, Madden, P, Magnusson, P, Manunta, P, Marek, D, März, W, Leach, I, Mcknight, B, Medland, S, Milani, L, Montgomery, G, Mooser, V, Mühleisen, T, Munroe, P, Musk, A, Narisu, N, Nicholson, G, Nohr, E, Ong, K, Oostra, B, Palotie, A, Peden, J, Pedersen, N, Polasek, O, Pouta, A, Pramstaller, P, Prokopenko, I, Pütter, C, Radhakrishnan, A, Raitakari, O, Rendon, A, Rivadeneira, F, Rudan, I, Saaristo, T, Sambrook, J, Sanders, A, Sanna, S, Saramies, J, Schipf, S, Schreiber, S, Schunkert, H, Shin, S, Signorini, S, Sinisalo, J, Skrobek, B, Soranzo, N, Stancakova, A, Stark, K, Stephens, J, Stirrups, K, Stumvoll, M, Swift, A, Theodoraki, E, Thorand, B, Tregouet, D, Tremoli, E, Van der Klauw, M, van Meurs, J, Vermeulen, S, Viikari, J, Virtamo, J, Vitart, V, Waeber, G, Wang, Z, Widen, E, Wild, S, Willemsen, G, Winkelmann, B, Witteman, J, Wong, A, Zillikens, M, Amouyel, P, Boehm, B, Boomsma, D, Caulfield, M, Chanock, S, Cupples, L, Dedoussis, G, Erdmann, J, Eriksson, J, Franks, P, Froguel, P, Gieger, C, Gyllensten, U, Hamsten, A, Harris, T, Hengstenberg, C, Hicks, A, Hingorani, A, Hinney, A, Hofman, A, Hovingh, K, Hveem, K, Illig, T, Jarvelin, M, Jöckel, K, Keinanen Kiukaanniemi, S, Kiemeney, L, Kuh, D, Laakso, M, Lehtimäki, T, Levinson, D, Martin, N, Nieminen, M, Njølstad, I, Ohlsson, C, Oldehinkel, A, Ouwehand, W, Palmer, L, Penninx, B, Power, C, Province, M, Psaty, B, Qi, L, Rauramaa, R, Ridker, P, Ripatti, S, Salomaa, V, Samani, N, Sørensen, T, Spector, T, Stefansson, K, Tönjes, A, Tuomilehto, J, Uitterlinden, A, Uusitupa, M, Wareham, N, Watkins, H, Wichmann, H, Wilson, J, Abecasis, G, Assimes, T, Barroso, I, Boehnke, M, Borecki, I, Deloukas, P, Fox, C, Frayling, T, Groop, L, Haritunian, T, Hunter, D, Kaplan, R, Karpe, F, Miriammoffatt, N, Mohlke, K, O'Connell, J, Pawitan, Y, Schadt, E, Schlessinger, D, Steinthorsdottir, V, Strachan, D, Thorsteinsdottir, U, van Duijn, C, Visscher, P, Di Blasio, A, Hirschhorn, J, Lindgren, C, Meyre, D, Mccarthy, M, Speliotes, E, North, K, Loos, R, Ingelsson, E, Kemp, J, Lammers, G, Heim, M, Peraita Adrados, R, Schmidt, C, Scott, R, Bell, J, Whitfield, J, Hastie, N, and Da Smith, G
Subjects: Epigenomics, Male, Netherlands Twin Register (NTR), body mass index, gene, SNP, Cancer Research, BIO/12 - BIOCHIMICA CLINICA E BIOLOGIA MOLECOLARE CLINICA, Potassium Channels, Glucose Transport Proteins, Facilitative, Medizin, Genome-wide association study, CHILDREN, ddc:616.07, FAMILIES, Body Mass Index, 0302 clinical medicine, Polymorphism (computer science), Genotype, LifeLines Cohort study, GENETICS & HEREDITY, Tandem Pore Domain, Genetics (clinical), ASSOCIATIONS, ddc:616, Genetics, 0303 health sciences, QUANTITATIVE TRAIT LOCI, Ecology, Genomics, Single Nucleotide, Generation Scotland Consortium, Urological cancers Radboud Institute for Health Sciences [Radboudumc 15], OBESITY, Physical Sciences, KCNK9 protein, Epigenetics, Female, ALCOHOLISM, Glucose Transport Proteins, Life Sciences & Biomedicine, Statistics (Mathematics), Human, Research Article, VARIANCES, Adult, PENETRANCE, GENES, lcsh:QH426-470, Evolution, European Continental Ancestry Group, Single-nucleotide polymorphism, Biostatistics, Biology, Quantitative trait locus, Polymorphism, Single Nucleotide, White People, 03 medical and health sciences, Genomic Imprinting, Potassium Channels, Tandem Pore Domain, Genetic, Behavior and Systematics, SDG 3 - Good Health and Well-being, Genetic linkage, GIANT Consortium, Genome-Wide Association Studies, Humans, Genetic Predisposition to Disease, Statistical Methods, Allele, Polymorphism, Molecular Biology, Ecology, Evolution, Behavior and Systematics, Gene Expression Regulation, Genome-Wide Association Study, Obesity, 030304 developmental biology, 0604 Genetics, Science & Technology, LINKAGE ANALYSIS, SLC2A10 protein, Biology and Life Sciences, Computational Biology, Facilitative, Genome Analysis, Ecology, Evolution, Behavior and Systematic, lcsh:Genetics, Inflammatory diseases Radboud Institute for Health Sciences [Radboudumc 5], 3111 Biomedicine, Genomic imprinting, Mathematics, 030217 neurology & neurosurgery, Developmental Biology
Abstract: The phenotypic effect of some single nucleotide polymorphisms (SNPs) depends on their parental origin. We present a novel approach to detect parent-of-origin effects (POEs) in genome-wide genotype data of unrelated individuals. The method exploits increased phenotypic variance in the heterozygous genotype group relative to the homozygous groups. We applied the method to >56,000 unrelated individuals to search for POEs influencing body mass index (BMI). Six lead SNPs were carried forward for replication in five family-based studies (of ∼4,000 trios). Two SNPs replicated: the paternal rs2471083-C allele (located near the imprinted KCNK9 gene) and the paternal rs3091869-T allele (located near the SLC2A10 gene) increased BMI equally (beta = 0.11 (SD), P, Author Summary Large genetic association studies have revealed many genetic factors influencing common traits, such as body mass index (BMI). These studies assume that the effect of genetic variants is the same regardless of whether they are inherited from the mother or the father. In our study, we have developed a new approach that allows us to investigate variants whose impact depends on their parental origin (parent-of-origin effects), in unrelated samples when the parental origin cannot be inferred. This is feasible because at genetic markers at which such effects occur there is increased variability of the trait among individuals who inherited different genetic codes from their mother and their father compared to individuals who inherited the same genetic code from both parents. We applied this methodology to discover genetic markers with parent-of-origin effects (POEs) on BMI. This resulted in six candidate markers showing strong POE association. We then attempted to replicate the POE effects of these markers in family studies (where one can infer the parental origin of the inherited variants). Two of our candidates showed significant association in the family studies, the paternal and maternal effects of these markers were in the opposite direction.
Published: 2014
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115. P1.25 Arterial Properties in Relation to Genetic Variations in the Adducin Subunits in a White Population

Author: Seidlerova, J., Staessen, J. A., Bochud, M., Nawrot, T., Casamassima, N., Citterio, L., Kuznetsova, T., Jin, Y., Manunta, P., Richart, T., Struijker-Boudier, H. A., Fagard, R., Filipovsky, J., and Bianchi, G.
Published: 2008
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116. Genetic burden of common variants in progressive and bout-onset multiple sclerosis

Author: SOROSINA M, BRAMBILLA P, CLARELLI F, BARIZZONE N, LUPOLI S, GUASCHINO C, OSICEANU AM, MOIOLA L, GHEZZI A, CONIGLIO G, PATTI F, MANCARDI G, MANUNTA P, GLORIOSO N, GUERINI FR, BERGAMASCHI R, PERLA F, PROGRESSO, PROGEMUS, MARTINELLI V, CUSI D, LEONE M, COMI G, D'ALFONSO S, MARTINELLI BONESCHI F, Among the collaborators, TEDESCHI, Gioacchino, Sorosina, M, Brambilla, P, Clarelli, F, Barizzone, N, Lupoli, S, Guaschino, C, Osiceanu, Am, Moiola, L, Ghezzi, An, Coniglio, G, Patti, F, Mancardi, G, Manunta, P, Glorioso, N, Guerini, Fr, Bergamaschi, R, Perla, F, Martinelli, V, Cusi, D, Leone, M, Comi, G, D’Alfonso, S, MARTINELLI-BONESCHI, F, PROGRESSO STUDY, Group, PROGEMUS STUDY, Group, Ghezzi, A, Progresso, Progemu, D'Alfonso, S, MARTINELLI BONESCHI, F, D'Ambrosio, Alessandro, and Tedeschi, Gioacchino
Subjects: Oncology, Male, Genome-wide association study, Sex Factor, Disease, Heritability, Multiple sclerosis, Primary progressive, Relapsing-remitting, Adolescent, Adult, Aged, Aged, 80 and over, Female, Genetic Markers, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Italy, Magnetic Resonance Imaging, Middle Aged, Multiple Sclerosis, Chronic Progressive, Phenotype, Risk Factors, Sex Factors, Young Adult, Polymorphism, Single Nucleotide, Neurology, Neurology (clinical), Genetic Marker, 80 and over, Genetic risk, Genetics, Multiple Sclerosis, Chronic Progressive, Explained variation, Human, medicine.medical_specialty, Single-nucleotide polymorphism, Polymorphism, Single Nucleotide, Internal medicine, medicine, Multiple sclerosi, business.industry, Risk Factor, medicine.disease, business
Abstract: Background: The contribution of genetic variants underlying the susceptibility to different clinical courses of multiple sclerosis (MS) is still unclear. Objective: The aim of the study is to evaluate and compare the proportion of liability explained by common SNPs and the genetic burden of MS-associated SNPs in progressive onset (PrMS) and bout-onset (BOMS) cases. Methods: We estimated the proportion of variance in disease liability explained by 296,391 autosomal SNPs in cohorts of Italian PrMS and BOMS patients using the genome-wide complex trait analysis (GCTA) tool, and we calculated a weighted genetic risk score (wGRS) based on the known MS-associated loci. Results: Our results identified that common SNPs explain a greater proportion of phenotypic variance in BOMS (36.5%±10.1%) than PrMS (20.8%±6.0%) cases, and a trend of decrease was observed when testing primary progressive (PPMS) without brain MRI inflammatory activity ( p = 7.9 × 10−3). Similarly, the wGRS and the variance explained by MS-associated SNPs were higher in BOMS than PPMS in males (wGRS: 6.63 vs 6.51, p = 0.04; explained variance: 4.8%±1.5% vs 1.7%±0.6%; p = 0.05). Conclusions: Our results suggest that the liability of disease is better captured by common genetic variants in BOMS than PrMS cases. The absence of inflammatory activity and male gender further raise the difference between clinical courses.
Published: 2014

117. Prospective multicentre observational study assessing the tolerance and perception of patients using the Liquick Base catheter with an Ergothan tip

Author: Gamé, X., Gania, L., Perrouin-Verbe, B., Costa, P., Marcelli, F., Wolff, N., Scribe, M.-J., Kerdraon, J., Goossens, D., Manunta, A., Guy, L., Rouleaud, S., Charvier, K., and Castel-Lacanal, E.
Abstract: Intermittent self-catheterisation has revolutionised the management of neurogenic bladder-sphincter dysfunctions. The Liquick Base catheter is characterised by a streamlined Ergothan tip. The purpose of this study is to assess the tolerance and perception of patients using this catheter.
Published: 2020
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118. Bilan urodynamique : tout ce que l’infirmier(e) doit savoir

Author: Bentellis, I., Hascoet, J., Tibi, B., Pierron, R., Manunta, A., Kerdraon, J., Rigole, H., Voiry, C., Durand, M., and Peyronnet, B.
Abstract: Le bilan urodynamique (BUD) est un examen complémentaire permettant d’explorer les mécanismes sous-tendant des symptômes du bas appareil urinaire (SBAU) ou une incontinence urinaire (IU). Il implique la mesure des pressions vésicales et sphinctériennes au moyen de sondes urétro-vésicale et rectal munies de capteurs de pression mais aussi la mesure du débit urinaire et des sensations vésicales lors du remplissage. La réalisation d’un BUD est loin d’être systématique en cas de SBAU ou IU et il doit chercher à répondre à une question clinique ou thérapeutique précise. Ainsi, l’histoire clinique avec interrogatoire spécifique, l’examen physique, le catalogue mictionnel et les auto-questionnaires sont des éléments préalables indispensables. Les temps de l’examen comportent une débitmétrie, une mesure du résidu post-mictionnel, une cystomanométrie, et selon les cas une profilométrie, une étude pression débit ou des tests de sensibilisation. Les pressions sont réglées au zéro avant l’examen et la validité du matériel et du montage est testée. Ce contrôle est poursuivi pendant toute la procédure afin de s’assurer de la qualité de l’enregistrement. Tout évènement (ex. : fuite d’urine, changement de position, urgenturie) est noté pendant l’étude. Un rapport final est réalisé par le médecin. Les compétences techniques de l’IDE permettent d’assurer la fiabilité, la reproductibilité, et l’interprétabilité du BUD. Ses compétences relationnelles sont tout aussi indispensables pour instaurer une relation de confiance et garantir une atmosphère favorable pour cet examen inconfortable et invasif.
Published: 2020
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119. Surgical treatment of talar osteo-chondral lesions with micro-fractures, mesenchymal cells grafting on membrane, or allograft: Mid-term clinical and magnetic resonance assessment

Author: Puddu, Leonardo, Altamore, Fabiana, Santandrea, Alessandro, Mercurio, Domenico, Caggiari, Gianfilippo, Della Sala, Sabino, Marinetti, Alessandro, Tessarolo, Francesco, Rigoni, Marta, Manunta, Andrea Fabio, and Cortese, Fabrizio
Abstract: Talar dome osteo-chondral lesions (OCL) are defects of the cartilaginous surface and subchondral bone often associated with sport practice. This retrospective observational work has the purpose of assessing: a) The clinical outcomes in the patients study group and in the three sub-groups; b) medium-term morphological and qualitative outcomes of the newly formed tissue by magnetic resonance imaging; c) if there is the correlation between new formed tissue clinical, morphological RM evaluation and qualitative clinical outcomes.
Published: 2020
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120. Resumption of physical activity and sport after knee replacement

Author: Pisanu, Francesco, Andreozzi, Matteo, Costagli, Federico, Caggiari, Gianfilipo, Saderi, Laura, Sotgiu, Giovanni, and Manunta, Andrea Fabio
Abstract: to assess the resumption of physical activity after knee replacement.
Published: 2020
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121. HIGH-SODIUM DIET INCREASE THE LIKELIHOOD OF BEING NON-DIPPING: ROLE OF 24H PRESSURE MONITORING IN THE DIAGNOSIS OF SALT SENSIVITY

Author: Tunesi, Francesca, Simonini, Marco, Citterio, Lorena, Zagato, Laura, Manunta, Paolo, and Lanzani, Chiara Livia
Published: 2024
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122. 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, MANUNTA P, 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, FLOREZ JC, Strawbridge, Rj, Dupuis, J, Prokopenko, I, Barker, A, Ahlqvist, E, Rybin, D, Petrie, Jr, Travers, Me, BOUATIA-NAJI, N, Dimas, A, 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, C, 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, Manunta, P, 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, F, 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, and Florez, Jc
Published: 2011

123. Relationship Between Frailty, Sodium, and Blood Pressure in Elderly People

Author: D'Urbano, Luca, Citterio, Lorena, Zagato, Laura, Concas, Maria Pina, Simonini, Marco, Lanzani, Chiara, and Manunta, Paolo
Published: 2023
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124. 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
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125. 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

126. 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, Sara M., 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, 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, Albertine J., 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, Sara M., 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, 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, Albertine J., 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

127. [OP.2C.02] ENDOGENOUS OUABAIN AS A BIOMARKER OF HEART FAILURE AND A PREDICTOR OF MORTALITY AFTER CARDIAC SURGERY

Author: Pozzoli, S., primary, Simonini, M., additional, Messaggio, E., additional, Casamassima, N., additional, Bignami, E., additional, Zagato, L., additional, Lanzani, C., additional, and Manunta, P., additional
Published: 2016
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128. [PP.06.05] RELATIONSHIP BETWEEN URIC ACID AND BLOOD PRESSURE LEVELS IN GENERAL POPULATION

Author: Simonini, M., primary, Lanzani, C., additional, Citterio, L., additional, Brioni, E., additional, Carpini, S. Delli, additional, Pozzoli, S., additional, Casamassima, N., additional, and Manunta, P., additional
Published: 2016
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129. [OP.7C.03] KLOTHO GENE POLYMORPHISM INTERACTS WITH ADDUCIN-ENDOGENOUS OUABAIN-NA+-K+ ATPASE SYSTEM IN SALT SENSITIVE HYPERTENSION

Author: Tentori, S., primary, Lanzani, C., additional, Citterio, L., additional, Brioni, E., additional, Simonini, M., additional, Zagato, L., additional, Messaggio, E., additional, and Manunta, P., additional
Published: 2016
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130. THU0519 Xanthine Oxidase Gene Variants and Their Association with Blood Pressure and Incident Hypertension: A Population Study

Author: Scheepers, L.E., primary, Wei, F., additional, Stolarz-Skrzypek, K., additional, Malyutina, S., additional, Tikhonoff, V., additional, Thijs, L., additional, Salvi, E., additional, Barlassina, C., additional, Filipovský, J., additional, Casiglia, E., additional, Nikitin, Y.P., additional, Kawecka-Jaszcz, K., additional, Manunta, P., additional, Cusi, D., additional, Boonen, A., additional, Staessen, J.A., additional, and Arts, I.C., additional
Published: 2016
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131. Second Generation Needling Techniques for the Treatment of Chondral Defects in Animal Model

Author: Zedde, Pietro, Cudoni, Sebastiano, Manunta, Lucia, Passino, Eraldo Sanna, Masala, Gerolamo, Brunetti, Antonio, Uboldi, Francesco Mattia, and Manunta, Andrea Fabio
Published: 2017
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132. Genome-wide association study identifies CAMKID variants involved in blood pressure response to losartan: the SOPHIA study

Author: Frau, F1, Zaninello, R, Salvi, E, Ortu, Mf, Braga, D, Velayutham, D, Argiolas, G, Fresu, G, Troffa, C, Bulla, E, Bulla, P, Pitzoi, S, Piras, Da, Glorioso, V, Chittani, M, Bernini, Giampaolo, Bardini, M, Fallo, F, Malatino, L, Stancanelli, B, Regolisti, G, Ferri, C, Desideri, G, Scioli, Ga, Galletti, F, Sciacqua, A, Perticone, F, Degli Esposti, E, Sturani, A, Semplicini, A, Veglio, F, Mulatero, P, Williams, Ta, Lanzani, C, Hiltunen, Tp, Kontula, K, Boerwinkle, E, Turner, St, Manunta, P, Barlassina, C, Cusi, D, and Glorioso, N.
Published: 2014

133. PRELIMINARY DATA ON THE ENDOGENOUS OUABAIN IN IDIOPATHIC PULMONARY ARTERIAL HYPERTENSION PATIENTS

Author: Manfrini, Valerio, Badagliacca, Roberto, Messaggio, Elisabetta, Poscia, Roberto, Torre, Roberto, Vizza, Carmine Dario, and Manunta, Paolo
Published: 2023
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134. Intradetrusor Injections of Botulinum Toxin A in Adults with Spinal Dysraphism.

Author: Peyronnet, Benoit, Even, Alexia, Capon, Grégoire, De Seze, Marianne, Hascoet, Juliette, Biardeau, Xavier, Baron, Maximilien, Perrouin-Verbe, Marie-Aimée, Boutin, Jean-Michel, Saussine, Christian, Phé, Véronique, Lenormand, Loic, Chartier-Kastler, Emmanuel, Cornu, Jean-Nicolas, Karsenty, Gilles, Manunta, Andrea, Schurch, Brigitte, Denys, Pierre, Amarenco, Gérard, and Game, Xavier
Subjects: BOTULINUM A toxins, BOTULINUM toxin, NEURAL tube defects, URINARY incontinence
Abstract: Purpose The aim of the current study was to determine the outcomes of botulinum toxin A intradetrusor injections in adult patients with spina bifida. Materials and methods All patients with spinal dysraphism who underwent intradetrusor injections of botulinum toxin A from 2002 to 2016 at a total of 14 centers were retrospectively included in analysis. The primary end point was the global success of injections, defined subjectively as the combination of urgency, urinary incontinence and detrusor overactivity/low bladder compliance resolution. Univariate and multivariate analysis was performed to seek predictors of global success. Results A total of 125 patients were included in study. The global success rate of the first injection was 62.3% with resolution of urinary incontinence in 73.5% of patients. All urodynamic parameters had improved significantly by 6 to 8 weeks compared to baseline, including maximum detrusor pressure (–12 cm H 2 O, p <0.001), maximum cystometric capacity (86.6 ml, p <0.001) and compliance (8.9 ml/cm H 2 O, p = 0.002). A total of 20 complications (3.6%) were recorded for the 561 intradetrusor botulinum toxin A injections, including 3 muscular weakness complications. The global success rate of the first injection was significantly lower in patients with poor compliance (34.4% vs 86.9%, OR 0.08, p <0.001). On multivariate analysis poor compliance was associated with a lower global success rate (OR 0.13, p <0.001). Female gender (OR 3.53, p = 0.01) and patient age (OR 39.9, p <0.001) were predictors of global success. Conclusions Intradetrusor botulinum toxin A injections were effective in adult patients with spina bifida who had detrusor overactivity. In contrast, effectiveness was much lower in adult patients with spina bifida who had poor bladder compliance. The other predictors of global success were female gender and older age. [ABSTRACT FROM AUTHOR]
Published: 2018
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135. Automatic generation of co-seismic displacement maps by using Sentinel-1 interferometric SAR data.

Author: Monterroso, Fernando, Luca, Claudio de, Bonano, Manuela, Lanari, Riccardo, Manunta, Michele, Manzo, Mariarosaria, Zinno, Ivana, and Casu, Francesco
Subjects: INTERFEROMETRY, MEDICAL technology, INFORMATION sharing, MEDICAL informatics, TIME series analysis, SYNTHETIC aperture radar
Abstract: Abstract We present a tool for the automatic generation of co-seismic Differential Synthetic Aperture Radar Interferometry (DInSAR) products by using space-borne SAR data. In particular, the implemented tool relies on the large availability of Sentinel-1 SAR data and on-line earthquake catalogues (e.g. USGS, INGV) to generate co-seismic Line Of Sight (LOS) interferograms and displacement maps. The processing is triggered by the occurrence of a main seismic event, according to the accessible earthquake catalogues. The tool automatically retrieves all the needed SAR acquisitions that cover a defined area across the epicentre and generates the DInSAR products that will be then openly available through the European Plate Observing System (EPOS) portal. Moreover, the possibility to implement the presented tool into the upcoming Copernicus Data and Information Access Services (DIAS) will significantly reduce the product processing time, thus implying a faster product generation and delivery. Accordingly, such a tool not only will contribute to expand the use of DInSAR products in the geoscience field, but also will play a key role on the support of the Civil Protection authorities during the management of seismic crisis. [ABSTRACT FROM AUTHOR]
Published: 2018
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136. The Parallel SBAS-DInSAR Processing Chain for the Generation of National Scale Sentinel-1 Deformation Time-Series.

Author: Luca, C. De, Bonano, M., Casu, F., Manunta, M., Manzo, M., Onorato, G., Zinno, I., and Lanari, R.
Subjects: INTERFEROMETRY, MEDICAL technology, INFORMATION sharing, MEDICAL informatics, TIME series analysis
Abstract: Abstract In this work we present a fully parallel and automatic interferometric processing chain, based on the well-known advanced DInSAR algorithm referred to as Parallel Small BAseline Subset (P-SBAS), for the effective and massive generation of Sentinel-1 (S-1) Interferometric Wide Swath (IWS) displacement time-series and corresponding mean deformation velocity maps of very wide areas. The strategy chosen to implement such a parallel processing chain fully benefits from the Terrain Observation with Progressive Scans (TOPS) mode characterizing the IWS acquisitions of the S-1 constellation for systematic monitoring of large land and coastal areas. The TOPS mode consists of a series of bursts that can be considered as separate images to be independently processed. Such a data structure fosters the parallelization of the S-1 IWS interferometric data processing, which can be automatically carried out through the exploitation of both high-performance distributed computing infrastructures and efficient algorithms for tackling the huge data flow provided by the S-1 constellation. To demonstrate the capability of the presented S-1 P-SBAS processing chain to deal with the huge volume of data acquired by the S-1 constellation, we process a very extended dataset acquired over the Italian territory from which we compute the mean velocity maps and associated deformation time-series. [ABSTRACT FROM AUTHOR]
Published: 2018
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137. Artificial Urinary Sphincter in Male Patients with Spina Bifida: Comparison of Perioperative and Functional Outcomes between Bulbar Urethra and Bladder Neck Cuff Placement.

Author: Khene, Zine-Eddine, Paret, Fanny, Perrouin-Verbe, Marie-Aimée, Prudhomme, Thomas, Hascoet, Juliette, Nedelec, Mathilde, Kerdraon, Jacques, Menard, Helene, Jezequel, Magali, Le Normand, Loïc, Manunta, Andrea, Game, Xavier, and Peyronnet, Benoit
Subjects: SPHINCTERS, PERIOPERATIVE care, NEURAL tube defects, SPINA bifida, KAPLAN-Meier estimator, SPINAL cord abnormalities, PATIENTS
Abstract: Purpose We evaluated the perioperative and long-term functional outcomes of bladder neck and peribulbar cuff placement of an artificial urinary sphincter in a population of adult male patients with spinal dysraphism. Materials and Methods We retrospectively analyzed the French spina bifida network database. Patients who underwent implantation of an artificial urinary sphincter from January 1985 to November 2015 were selected and stratified into 2 groups according to cuff location, that is bladder neck vs bulbar urethra. Explantation-free and revision-free device survival was estimated by the Kaplan-Meier method and compared with the log rank test. Cox regression models were created to assess prognostic factors of artificial urinary sphincter device failure. Results A total of 65 patients were included in study. Most patients were not wheelchair bound. The cuff was implanted around the bulbar urethra at 46 procedures (59%) and around the bladder neck in 32 (41%). In the peribulbar and bladder neck groups median revision-free device survival was 11.7 and 14.3 years, respectively (p = 0.73). Median explantation-free device survival was 18.5 and 24.5 years, respectively (p = 0.08). On multivariate analysis clean intermittent catheterization was the only predictor of artificial urinary sphincter device failure. Cuff location had no influence. At the last followup satisfactory continence was similar in the 2 groups (83% vs 75%, p = 0.75). Conclusions In male patients with spinal dysraphism morbidity and functional outcomes were similar for bladder neck and bulbar urethra cuff placement but with a trend toward longer survival without explantation in the bladder neck group. Clean intermittent catheterization was the only predictor of shorter device survival on multivariate analysis. [ABSTRACT FROM AUTHOR]
Published: 2018
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138. Valutazione Del Benessere Psico-Fisico Nell’aderenza Terapeutica Nelle Donne Con Malattia Renale Policistica Autosomica Dominante: Uno Studio Osservazionale

Author: Brioni, Elena, Magnaghi, Cristiano, Delli Zotti, Giulia Bruna, Sangiovanni, Eleonora, Sciarrone Alibrandi, Maria Teresa, Apuzzo, Luigi, Manunta, Paolo, Logias, Francesco, and Burrai, Francesco
Abstract: Evaluation Of The Psychophysical Well-Being In The Compliance Of Women With Autosomal Dominant Policystic Kidney Disease: An Observational StudyBACKGROUND: Autosomal dominant polycystic kidney disease is the most common inherited renal disease and affects less than 1 every 400-1,000 people. There are many effective treatments, including blood pressure management, physical activity, low sodium diet and hydration. Therapeutic education is part of a patient’s care and treatment. This approach is an essential strategy in order to face the current healthcare scenario, in which the number of people affected by chronic diseases is progressively increasing. OBJECTIVES: This article aims to analyze the effect of therapeutic education in patients with ADPKD, the level of adherence to pharmacological therapy and their compliance to dietetic and lifestyle recommendations as part of a nursing-led education. METHODS: This is a prospective, longitudinal, observational pilot study. The following measurements were used: Kidney Disease Quality of life - Short Form, Hospital Anxiety and Depression Scale, Body Uneasiness Test. At the T0 visit, a nurse selected patients and carried out a personalized educational intervention with the aims of adhering to drug therapies, monitoring blood pressure and dietary behavior (physical activity and water intake). At the T1 visit, patients performed psychological tests. At the T2 visit, the following evaluations were performed: a psychological interview together with the delivery and evaluation of the tests performed, an interview with the nurse to evaluate the adherence to the prescriptions, and a control of parameters such as physical activity, diet, water intake, drug therapy, and blood pressure. RESULTS: Therapeutic education can have a positive impact on patients’ health by improving adherence to the pharmacological therapy, diet and lifestyle. CONCLUSIONS: Therapeutic education improve the patient’s knowledge, treatments and correct behaviors as well as promotes an independent management of the disease. Through an educational intervention, the patient acquires the ability and the awareness to modify the wrong behaviors and to guarantee a balance between his needs and the pathology, thus improving the quality of life.
Published: 2019
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139. DInSAR Analysis and Analytical Modeling of Mount Etna Displacements: The December 2018 Volcano‐Tectonic Crisis

Author: De Novellis, V., Atzori, S., De Luca, C., Manzo, M., Valerio, E., Bonano, M., Cardaci, C., Castaldo, R., Di Bucci, D., Manunta, M., Onorato, G., Pepe, S., Solaro, G., Tizzani, P., Zinno, I., Neri, M., Lanari, R., and Casu, F.
Abstract: We investigate the 24–27 December 2018 eruption of Mount Etna occurred from fissures located on the volcano eastern flank and accompanied by a seismic swarm, which was triggered by the magma intrusion and continued for weeks after the end of the eruption. Moreover, this swarm involved some of the shallow volcano‐tectonic structures located on the Mount Etna flanks and culminated on 26 December with the strongest event (ML4.8), occurred along the Fiandaca Fault. In this work, we analyze seismological data and Sentinel‐1 Differential Interferometric Synthetic Aperture Radar (DInSAR) measurements, the latter inverted through analytical modeling. Our results suggest that a dike source intruded, promoting the opening of the eruptive fissures fed by a shallower dike. Moreover, our findings indicate that the activation of faults in different sectors of the volcano may be considered as a response to accommodate the deformations induced by the magma volumes injection. We investigate the ground displacements and the 3D source geometry of the December 2018 Mount Etna (Italy) volcano‐tectonic crisisDInSAR data obtained from SAR data pairs collected by Sentinel‐1 have been inverted through analytical modelingOur results suggest the presence of two volcanic sources: a shallow dike and a deeper one associated with a long‐term seismic swarm
Published: 2019
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140. Lanosterol Synthase Genetic Variants, Endogenous Ouabain, and Both Acute and Chronic Kidney Injury

Author: Iatrino, Rossella, Lanzani, Chiara, Bignami, Elena, Casamassima, Nunzia, Citterio, Lorena, Meroni, Roberta, Zagato, Laura, Zangrillo, Alberto, Alfieri, Ottavio, Fontana, Simone, Macrina, Lorenza, Delli Carpini, Simona, Messaggio, Elisabetta, Brioni, Elena, Dell’Antonio, Giacomo, Manunta, Paolo, Hamlyn, John M., and Simonini, Marco
Abstract: Studies of humans and animals have suggested that endogenous ouabain (EO) and related genes are mediators of acute (AKI) and chronic kidney injury. We sought to examine the relationship among EO levels, genetic variants in lanosterol synthase (LSS; an enzyme that catalyzes synthesis of cholesterol, a precursor of EO), and both AKI and chronic kidney injury.
Published: 2019
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141. Common noncoding UMOD gene variants induce salt-sensitive hypertension and kidney damage by increasing uromodulin expression

Author: Trudu, M., Janas, S., Lanzani, C., Debaix, H., Schaeffer, C., Ikehata, M., Citterio, L., Demaretz, S., Trevisani, F., Ristagno, G., Glaudemans, B., Laghmani, K., Dell'antonio, G., Bochud, M., Burnier, M., Devuyst, O., Martin, P.Y., Mohaupt, M., Paccaud, F., Pechère-Bertschi, A., Vogt, B., Ackermann, D., Ehret, G., Guessous, I., Ponte, B., Pruijm, M., Loffing, J., Rastaldi, M.P., Manunta, P., Rampoldi, L., Swiss Kidney Project on Genes in Hypertension (SKIPOGH) team, Bochud, M., Burnier, M., Devuyst, O., Martin, PY., Mohaupt, M., Paccaud, F., Pechère-Bertschi, A., Vogt, B., Ackermann, D., Ehret, G., Guessous, I., Ponte, B., and Pruijm, M.
Subjects: Male, Tamm–Horsfall protein, Hypertension/chemically induced/genetics, Genome-wide association study, 030204 cardiovascular system & hematology, Mice, 0302 clinical medicine, Promoter Regions, Genetic, ddc:616, 0303 health sciences, Kidney, education.field_of_study, biology, General Medicine, Middle Aged, 3. Good health, Up-Regulation, medicine.anatomical_structure, Hypertension, Female, Sodium, Dietary/adverse effects/pharmacokinetics, Adult, medicine.medical_specialty, Population, Renal function, Mice, Transgenic, Renal Insufficiency, Chronic/genetics, Polymorphism, Single Nucleotide, General Biochemistry, Genetics and Molecular Biology, Uromodulin/genetics, 03 medical and health sciences, Young Adult, Internal medicine, Uromodulin, medicine, Genetic predisposition, Animals, Humans, Genetic Predisposition to Disease, Renal Insufficiency, Chronic, education, 030304 developmental biology, ddc:613, Aged, Sodium, Dietary, medicine.disease, Promoter Regions, Genetic/genetics, Endocrinology, Blood pressure, Gene Expression Regulation, biology.protein, Kidney disease, Genome-Wide Association Study
Abstract: Hypertension and chronic kidney disease (CKD) are complex traits representing major global health problems. Multiple genome-wide association studies have identified common variants in the promoter of the UMOD gene, which encodes uromodulin, the major protein secreted in normal urine, that cause independent susceptibility to CKD and hypertension. Despite compelling genetic evidence for the association between UMOD risk variants and disease susceptibility in the general population, the underlying biological mechanism is not understood. Here, we demonstrate that UMOD risk variants increased UMOD expression in vitro and in vivo. Uromodulin overexpression in transgenic mice led to salt-sensitive hypertension and to the presence of age-dependent renal lesions similar to those observed in elderly individuals homozygous for UMOD promoter risk variants. The link between uromodulin and hypertension is due to activation of the renal sodium cotransporter NKCC2. We demonstrated the relevance of this mechanism in humans by showing that pharmacological inhibition of NKCC2 was more effective in lowering blood pressure in hypertensive patients who are homozygous for UMOD promoter risk variants than in other hypertensive patients. Our findings link genetic susceptibility to hypertension and CKD to the level of uromodulin expression and uromodulin's effect on salt reabsorption in the kidney. These findings point to uromodulin as a therapeutic target for lowering blood pressure and preserving renal function.
Published: 2013

142. Genetic burden of common variants in progressive and bout-onset multiple sclerosis

Author: Sorosina, M, Brambilla, P, Clarelli, F, Barizzone, N, Lupoli, S, Guaschino, C, Osiceanu, Am, Moiola, L, Ghezzi, A, Coniglio, G, Patti, F, Mancardi, G, Manunta, P, Glorioso, N, Guerini, Fr, Bergamaschi, R, Perla, F, Martinelli, V, Cusi, D, Leone, M, Comi, G, D'Alfonso, S, Martinelli Boneschi, F. F., Liberatore, G, Rodegher, M, Rossi, P, Radaelli, M, Colombo, B, Annovazzi, P, Capra, R, Amato, Mp, Nacmias, B, D'Ambrosio, A, Tedeschi, G, Cavalla, P, D'Amico, E, Galimberti, D, Scarpini, E, Atzori, M, Gallo, Paolo, Bucello, S, Grimaldi, L, Capello, E, Naldi, P, Di Sapio, A, Caputo, D, Rosso, G, Cordera, S, Cavallo, R, Benedetti, D, and Salvetti, M.
Published: 2013

143. Fisiogenetica della pigmentazione nei pomodori e selezione per ricchezza in vitamina C ed in β-carotene

Author: Manunta, Carmina
Published: 1958
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144. Plasma ouabain-like factor during acute and chronic changes in sodium balance in essential hypertension

Author: Manunta P, Messaggio E, Ballabeni C, Sciarrone MT, Lanzani C, Ferrandi M, Hamlyn JM, Cusi D, Bianchi G, Salt Sensitivity Study Group of the Italian Society of Hypertension, GALLETTI, FERRUCCIO, Manunta, P, Messaggio, E, Ballabeni, C, Sciarrone, Mt, Lanzani, C, Ferrandi, M, Hamlyn, Jm, Cusi, D, Galletti, Ferruccio, Bianchi, G, Salt Sensitivity Study Group of the Italian Society of, Hypertension, Manunta, Paolo, Galletti, F, and SALT SENSITIVITY STUDY GROUP OF THE ITALIAN SOCIETY OF, Hypertension
Subjects: Adult, Male, medicine.medical_specialty, Digoxin, Sodium, chemistry.chemical_element, Blood Pressure, Essential hypertension, Ouabain, Internal medicine, Renin, Internal Medicine, medicine, Humans, Sodium handling, Cross-Over Studies, business.industry, Saponins, medicine.disease, Crossover study, Cardenolides, Blood pressure, Endocrinology, chemistry, Hypertension, Female, business, Homeostasis, Low sodium, medicine.drug
Abstract: An ouabain-like factor has been implicated repeatedly in salt-sensitive hypertension as a natriuretic agent. However, the response of plasma ouabain-like factor to acute and chronic variation of body sodium is unclear. We studied 138 patients with essential hypertension who underwent an acute volume expansion/contraction maneuver (2 days) and 20 patients who entered a blind randomized crossover design involving chronically controlled sodium intake and depletion (170 to 70 mmol/d; 2 weeks each period). In both studies, plasma levels of ouabain-like factor were higher during sodium depletion (acute: 338.8±17.4 and 402.7±22.8 pmol/L for baseline and low sodium, respectively, P P =0.01). No significant change in plasma ouabain-like factor was observed after a 2-hour saline infusion (333.4±23.9 pmol/L) or controlled sodium (402.1±34.9 pmol/L). When patients were divided into salt-sensitive or salt-resistant groups, no differences in plasma ouabain-like factor were observed in the 2 groups at baseline or in response to the 2 protocols: salt resistant (n=69, 340.1±25.9 pmol/L) versus salt sensitive (n=69, 337.4±23.6 pmol/L) and chronic salt resistant (n=11, 336.0±53.2) versus salt sensitive (n=9, 301.1±331.4 pmol/L). However, circulating ouabain-like factor was increased by sodium depletion in both groups. These results demonstrate that circulating ouabain-like factor is raised specifically by maneuvers that promote the loss of body sodium. Acute expansion of body fluids with isotonic saline is not a stimulus to plasma ouabain-like factor. Moreover, basal levels of plasma ouabain-like factor do not differ among patients with salt-sensitive or salt-resistant hypertension. Taken together, these new results suggest that ouabain-like factor is involved in the adaptation of humans to sodium depletion and argue against the hypothesis that ouabain-like factor is a natriuretic hormone.
Published: 2001

145. Salt Sensitivity Study Group of theItalian Society of Hypertension: Plasma ouabain-like factor during acute and chronic changes in sodium balance in essential hypertension

Author: MANUNTA P, MESSAGGIO E, BALLABENI C, SCIARRONE MT, LANZANI C, FERRANDI M, HAMLYN JM, CUSI D, BIANCHI G., GALLETTI, FERRUCCIO, Manunta, P, Messaggio, E, Ballabeni, C, Sciarrone, Mt, Lanzani, C, Ferrandi, M, Hamlyn, Jm, Cusi, D, Galletti, Ferruccio, and Bianchi, G.
Published: 2001

146. Population based strategy for dietary salt intake reduction: Italian initiatives in the European framework

Author: Strazzullo, P, Cairella, G, Campanozzi, A, Carcea, M, Galeone, D, Galletti, F, Giampaoli, S, Iacoviello, L, Siani A, Scalfi L., Simonetti, P, Agabiti Rosei, E, Castellano, M, Fallo, F, Giacchetti, G, Malatino, Lorenzo, Manunta, P, Morganti, A, Rossi, E, Sarzani, R, Veglio, F, Volpe, M, Trimarco, B, Lombardi, G, Mantero, F, Vitti, P, Borghi, L, Nouvenne, A, Mallamaci, F, and Campanozzi, A.
Subjects: cardiovascular risk, hypertension, salt intake
Published: 2012

147. Effects of the interaction between adducins and EAAT2 polymorphisms on cognition in schizophrenia: preliminary findings

Author: Marta Bosia, Zagato, L., Spangaro, M., Merlino, L., Pirovano, A., Bramanti, P., Manunta, P., Smeraldi, E., Cavallaro, R., Bosia, Marta, Zagato, L, Spangaro, M, Merlino, L, Pirovano, A, Bramanti, P, Manunta, Paolo, Smeraldi, E, and Cavallaro, Roberto
Published: 2012

148. Routine enema before urodynamics has no impact on the quality of abdominal pressure curves: Results of a prospective controlled study

Author: Rigole, H., Senal, N., Damphousse, M., Brochard, C., Manunta, A., Kerdraon, J., Tondut, L., Alimi, Q., Hascoet, J., Siproudhis, L., Peyronnet, B., and Bonan, I.
Abstract: The presence of stools in the rectum might affect the quality of the abdominal pressure curve during filling cystometry, but, to date, no study has evaluated the impact of bowel preparation before urodynamics. We evaluated the influence of a sodium phosphate enema before urodynamics on the quality of the abdominal pressure curve.
Published: 2024
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149. Impact de l’assistance robotique sur la pratique et les résultats de la chirurgie rénale conservatrice : une expérience monocentrique

Author: Fardoun, T., Peyronnet, B., Oger, E., Verhoest, G., Mathieu, R., Khene, Z., Pradere, B., Alimi, Q., Manunta, A., Rioux-Leclercq, N., Patard, J.-J., Kammerer-Jacquet, S.-F., and Bensalah, K.
Abstract: L’objectif de ce travail était d’analyser l’évolution des pratiques et des résultats de la néphrectomie partielle (NP) avec l’acquisition du robot Da Vinci®.
Published: 2024
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150. Prediction and consistency of blood pressure salt-sensitivity as assessed by rapid volume expansion and contraction protocol

Author: STRAZZULLO, PASQUALE, GALLETTI, FERRUCCIO, DESSÌ FULGHERI P, FERRI C, GLORIOSO N, MALATINO L, MANTERO F, MANUNTA P, SEMPLICINI A, GHIADONI L, ZOCCALI C., Strazzullo, Pasquale, Galletti, Ferruccio, DESSÌ FULGHERI, P, Ferri, C, Glorioso, N, Malatino, L, Mantero, F, Manunta, P, Semplicini, A, Ghiadoni, L, and Zoccali, C.
Published: 2000

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