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51. Mining the Human Phenome Using Allelic Scores That Index Biological Intermediates

Author: Evans, D.M. (David), Brion, M.-J. (Maria), Paternoster, L. (Lavinia), Kemp, J.P. (John), Mcmahon, G. (George), Munafò, M.R. (Marcus), Whitfield, J. (John), Medland, S.E. (Sarah), Montgomery, G.W. (Grant), Timpson, N.J. (Nicholas), St Pourcain, B. (Beate), Lawlor, D.A. (Debbie), Martin, N.G. (Nicholas), Dehghan, A. (Abbas), Hirschhorn, J.N. (Joel), Davey-Smith, G. (George), Evans, D.M. (David), Brion, M.-J. (Maria), Paternoster, L. (Lavinia), Kemp, J.P. (John), Mcmahon, G. (George), Munafò, M.R. (Marcus), Whitfield, J. (John), Medland, S.E. (Sarah), Montgomery, G.W. (Grant), Timpson, N.J. (Nicholas), St Pourcain, B. (Beate), Lawlor, D.A. (Debbie), Martin, N.G. (Nicholas), Dehghan, A. (Abbas), Hirschhorn, J.N. (Joel), and Davey-Smith, G. (George)
Abstract: It is common practice in genome-wide association studies (GWAS) to focus on the relationship between disease risk and genetic variants one marker at a time. When relevant genes are identified it is often possible to implicate biological intermediates and pathways likely to be involved in disease aetiology. However, single genetic variants typically explain small amounts of disease risk. Our idea is to construct allelic scores that explain greater proportions of the variance in biological intermediates, and subsequently use these scores to data mine GWAS. To investigate the approach's properties, we indexed three biological intermediates where the results of large GWAS meta-analyses were available: bo
Published: 2013
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52. Genetic Loci for Retinal Arteriolar Microcirculation

Author: Sim, X. (Xueling), Jensen, R.A. (Richard), Ikram, M.K. (Kamran), Cotch, M.F. (Mary Frances), Li, X. (Xiaohui), MacGregor, S. (Stuart), Xie, J. (Jing), Smith, A.V. (Albert Vernon), Boerwinkle, E.A. (Eric), Mitchell, P. (Paul), Klein, R. (Ronald), Klein, B.E.K. (Barbara), Glazer, N.L. (Nicole), Lumley, T. (Thomas), McKnight, B. (Barbara), Psaty, B.M. (Bruce), Jong, P.T.V.M. (Paulus) de, Hofman, A. (Albert), Rivadeneira Ramirez, F. (Fernando), Uitterlinden, A.G. (André), Duijn, C.M. (Cornelia) van, Aspelund, T. (Thor), Eiriksdottir, G. (Gudny), Harris, T.B. (Tamara), Jonasson, F. (Fridbert), Launer, L.J. (Lenore), Attia, J. (John), Baird, P.N. (Paul), Harrap, S. (Stephen), Holliday, E.G. (Elizabeth), Inouye, M. (Michael), Rochtchina, E. (Elena), Scott, R.J. (Rodney), Viswanathan, A.C. (Ananth), Li, G. (Guo), Smith, N.L. (Nicholas), Wiggins, K.L. (Kerri), Kuo, J.Z. (Jane), Taylor, K.D. (Kent), Hewit, A.W. (Alex), Martin, N.G. (Nicholas), Montgomery, G.W. (Grant), Sun, C. (Cong), Young, T.L. (Terri), Mackey, D.A. (David), Zuydam, N.R. (Natalie) van, Doney, A.S.F. (Alex), Palmer, C.N.A. (Colin), Morris, A.D. (Andrew), Rotter, J.I. (Jerome), Tai, E.S. (Shyong), Gudnason, V. (Vilmundur), Vingerling, J.R. (Hans), Siscovick, D.S. (David), Wang, J.J. (Jie Jin), Wong, T.Y. (Tien Yin), Sim, X. (Xueling), Jensen, R.A. (Richard), Ikram, M.K. (Kamran), Cotch, M.F. (Mary Frances), Li, X. (Xiaohui), MacGregor, S. (Stuart), Xie, J. (Jing), Smith, A.V. (Albert Vernon), Boerwinkle, E.A. (Eric), Mitchell, P. (Paul), Klein, R. (Ronald), Klein, B.E.K. (Barbara), Glazer, N.L. (Nicole), Lumley, T. (Thomas), McKnight, B. (Barbara), Psaty, B.M. (Bruce), Jong, P.T.V.M. (Paulus) de, Hofman, A. (Albert), Rivadeneira Ramirez, F. (Fernando), Uitterlinden, A.G. (André), Duijn, C.M. (Cornelia) van, Aspelund, T. (Thor), Eiriksdottir, G. (Gudny), Harris, T.B. (Tamara), Jonasson, F. (Fridbert), Launer, L.J. (Lenore), Attia, J. (John), Baird, P.N. (Paul), Harrap, S. (Stephen), Holliday, E.G. (Elizabeth), Inouye, M. (Michael), Rochtchina, E. (Elena), Scott, R.J. (Rodney), Viswanathan, A.C. (Ananth), Li, G. (Guo), Smith, N.L. (Nicholas), Wiggins, K.L. (Kerri), Kuo, J.Z. (Jane), Taylor, K.D. (Kent), Hewit, A.W. (Alex), Martin, N.G. (Nicholas), Montgomery, G.W. (Grant), Sun, C. (Cong), Young, T.L. (Terri), Mackey, D.A. (David), Zuydam, N.R. (Natalie) van, Doney, A.S.F. (Alex), Palmer, C.N.A. (Colin), Morris, A.D. (Andrew), Rotter, J.I. (Jerome), Tai, E.S. (Shyong), Gudnason, V. (Vilmundur), Vingerling, J.R. (Hans), Siscovick, D.S. (David), Wang, J.J. (Jie Jin), and Wong, T.Y. (Tien Yin)
Abstract: Narrow arterioles in the retina have been shown to predict hypertension as well as other vascular diseases, likely through an increase in the peripheral resistance of the microcirculatory flow. In this study, we performed a genome-wide association study in 18,722 unrelated individuals of European ancestry from the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium and the Blue Mountain Eye Study, to identify genetic determinants associated with variations in retinal arteriolar caliber. Retinal vascular calibers were measured on digitized retinal photographs using a standardized protocol. One variant (rs2194025 on chromosome 5q14 near the myocyte enhancer factor 2C MEF2C gene) was associated with retinal arteriolar caliber in the meta-analysis of the discovery cohorts at genome-wide significance of P-value < 5 x 10(-8) This variant was replicated in an additional 3,939 individuals of European ancestry from the Australian Twins Study and Multi-Ethnic Study of Atherosclerosis (rs2194025, P-value= 2.11 x 10(-12) in combined meta-analysis of discovery and replication cohorts). In independent studies of modest sample sizes, no significant association was found between this variant and clinical outcomes including coronary artery disease, stroke, myoca
Published: 2013
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53. A Genome-Wide Association Study Identifies Five Loci Influencing Facial Morphology in Europeans

Author: Liu, F. (Fan), Lijn, F. (Fedde) van der, Schurmann, C. (Claudia), Zhu, G. (Gu), Chakravarty, M.M. (M Mallar), Hysi, P.G. (Pirro), Wollstein, A. (Andreas), Lao Grueso, O. (Oscar), Bruijne, M. (Marleen) de, Ikram, M.A. (Arfan), Lugt, A. (Aad) van der, Rivadeneira Ramirez, F. (Fernando), Uitterlinden, A.G. (André), Hofman, A. (Albert), Niessen, W.J. (Wiro), Homuth, G. (Georg), Zubicaray, G.I. (Greig) de, Mcmahon, K.L. (Katie), Thompson, P.M. (Paul), Daboul, A. (Amro), Puls, R. (Ralf), Hegenscheid, K. (Katrin), Bevan, L. (Liisa), Pausova, Z. (Zdenka), Medland, S.E. (Sarah), Montgomery, G.W. (Grant), Wright, M.J. (Margaret), Wicking, C. (Carol), Boehringer, S. (Stefan), Spector, T.D. (Timothy), Paus, T. (Tomas), Martin, N.G. (Nicholas), Biffar, R. (Reiner), Kayser, M.H. (Manfred), Liu, F. (Fan), Lijn, F. (Fedde) van der, Schurmann, C. (Claudia), Zhu, G. (Gu), Chakravarty, M.M. (M Mallar), Hysi, P.G. (Pirro), Wollstein, A. (Andreas), Lao Grueso, O. (Oscar), Bruijne, M. (Marleen) de, Ikram, M.A. (Arfan), Lugt, A. (Aad) van der, Rivadeneira Ramirez, F. (Fernando), Uitterlinden, A.G. (André), Hofman, A. (Albert), Niessen, W.J. (Wiro), Homuth, G. (Georg), Zubicaray, G.I. (Greig) de, Mcmahon, K.L. (Katie), Thompson, P.M. (Paul), Daboul, A. (Amro), Puls, R. (Ralf), Hegenscheid, K. (Katrin), Bevan, L. (Liisa), Pausova, Z. (Zdenka), Medland, S.E. (Sarah), Montgomery, G.W. (Grant), Wright, M.J. (Margaret), Wicking, C. (Carol), Boehringer, S. (Stefan), Spector, T.D. (Timothy), Paus, T. (Tomas), Martin, N.G. (Nicholas), Biffar, R. (Reiner), and Kayser, M.H. (Manfred)
Abstract: Inter-individual variation in facial shape is one of the most noticeable phenotypes in humans, and it is clearly under genetic regulation; however, almost nothing is known about the genetic basis of normal human facial morphology. We therefore conducted a genome-wide association study for facial shape phenotypes in multiple discovery and replication cohorts, considering almost ten thousand individuals of European descent from several countries. Phenotyping of facial shape features was based on landmark data obtained from three-dimensional head magnetic resonance images (MRIs) and two-dimensional portrait images. We identified five independent genetic loci associated with different facial phenotypes, suggesting the involvement of five candidate genes-PRDM16, PAX3, TP63, C5orf50, and COL17A1-in the determination of the human face. Three of them have been implicated previously in vertebrate craniofacial development and disease, and the remaining two genes potentially represent novel players in the molecular networks governing facial development. Our finding at PAX3 influencing the position of the nasion replicates a recent GWAS of facial features. In addition to the reported GWA findings, we established links between common DNA variants previously associated with NSCL/P at 2p21, 8q24, 13q31, and 17q22 and normal facial-shape variations based on a candidate gene approach. Overall our study implies that DNA variants in genes essential for craniofacial development contribute with relatively small effect size to the spectrum of normal variation in human facial morphology. This observation has important consequences for future studies aiming to identify more genes involved in the human facial morphology, as well as for potential applications of DNA prediction of facial shape such as in future forensic applications.
Published: 2012
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54. Genome-wide meta-analysis of common variant differences between men and women

Author: Boraska, V. (Vesna), Jerončić, A. (Ana), Colonna, V. (Vincenza), Southam, L. (Lorraine), Nyholt, D.R. (Dale), Rayner, N.W. (Nigel William), Perry, J.R.B. (John), Toniolo, D. (Daniela), Albrecht, E. (Eva), Ang, W.Q. (Wei), Bandinelli, S. (Stefania), Barbalic, M. (maja), Barroso, I.E. (Inês), Beckmann, J.S. (Jacques), Biffar, R. (Reiner), Boomsma, D.I. (Dorret), Campbell, H. (Harry), Corre, T. (Tanguy), Erdmann, J. (Jeanette), Esko, T. (Tõnu), Fischer, K. (Krista), Franceschini, N. (Nora), Frayling, T.M. (Timothy), Girotto, S., Gonzalez, J.R. (Juan), Harris, T.B. (Tamara), Heath, A.C. (Andrew), Heid, I.M. (Iris), Hoffmann, W. (Wolfgang), Hofman, A. (Albert), Horikoshi, M. (Momoko), Zhao, J.H. (Jing Hua), Jackson, A.U. (Anne), Hottenga, J.J. (Jouke Jan), Jula, A. (Antti), Kähönen, M. (Mika), Khaw, K-T. (Kay-Tee), Kiemeney, L.A.L.M. (Bart), Klopp, N. (Norman), Kutalik, Z. (Zoltán), Lagou, V. (Vasiliki), Launer, L.J. (Lenore), Lehtimäki, T. (Terho), Lemire, M. (Mathieu), Lokki, M.L., Loley, C. (Christina), Luan, J., Mangino, M. (Massimo), Leach, I.M. (Irene Mateo), Medland, S.E. (Sarah), Mihailov, E. (Evelin), Montgomery, G.W. (Grant), Navis, G. (Gerjan), Newnham, J.P. (John), Nieminen, M.S. (Markku), Palotie, A. (Aarno), Panoutsopoulou, K. (Kalliope), Peters, A. (Annette), Pirastu, N. (Nicola), Polasek, O. (Ozren), Rehnström, K. (Karola), Ripatti, S. (Samuli), Rivadeneira Ramirez, F. (Fernando), Robino, A. (Antonietta), Samani, N.J. (Nilesh), Shin, S.-Y., Sinisalo, J. (Juha), Smith, A.V. (Davey), Soranzo, N. (Nicole), Stolk, L. (Lisette), Swinkels, D.W. (Dorine), Tanaka, T. (Toshiko), Teumer, A. (Alexander), Tönjes, A. (Anke), Traglia, M. (Michela), Tuomilehto, J. (Jaakko), Valsesia, A. (Armand), Gilst, W.H. (Wiek) van, Meurs, J.B.J. (Joyce) van, Viikari, J. (Jorma), Vink, J.M. (Jacqueline), Waeber, G. (Gérard), Warrington, N.M. (Nicole), Widen, E. (Elisabeth), Willemsen, G.A.H.M. (Gonneke), Wright, A.F. (Alan), Zanke, C. (Christof), Zgaga, L. (Lina), Boehnke, M. (Michael), Adamo, P. (Pio) d', Geus, E.J.C. (Eco) de, Demerath, E.W. (Ellen), Heijer, M. (Martin) den, Hagen, K. (Knut), Ferrucci, L. (Luigi), Gieger, C. (Christian), Gudnason, V. (Vilmundur), Hayward, C. (Caroline), Hengstenberg, C. (Christian), Hudson, T.J. (Thomas), Jarvelin, M.-R. (Marjo-Riitta), Kogevinas, M. (Manolis), Loos, R.J.F. (Ruth), Martin, N.G. (Nicholas), Metspalu, A. (Andres), Pennell, C.E. (Craig), Penninx, B.W.J.H. (Brenda), Perola, M. (Markus), Raitakari, O. (Olli), Salomaa, V. (Veikko), Schreiber, S. (Stefan), Schunkert, H. (Heribert), Spector, T.D. (Timothy), Stumvoll, M. (Michael), Uitterlinden, A.G. (André), Ulivi, S. (Shelia), Harst, P. (Pim) van der, Vollenweider, P. (Peter), Völzke, H. (Henry), Wareham, N.J. (Nick), Wichmann, H.E. (Heinz Erich), Wilson, J.F. (James), Rudan, I. (Igor), Xue, Y. (Yali), Zeggini, E. (Eleftheria), Ritchie, G.R.S. (Graham), Boraska, V. (Vesna), Jerončić, A. (Ana), Colonna, V. (Vincenza), Southam, L. (Lorraine), Nyholt, D.R. (Dale), Rayner, N.W. (Nigel William), Perry, J.R.B. (John), Toniolo, D. (Daniela), Albrecht, E. (Eva), Ang, W.Q. (Wei), Bandinelli, S. (Stefania), Barbalic, M. (maja), Barroso, I.E. (Inês), Beckmann, J.S. (Jacques), Biffar, R. (Reiner), Boomsma, D.I. (Dorret), Campbell, H. (Harry), Corre, T. (Tanguy), Erdmann, J. (Jeanette), Esko, T. (Tõnu), Fischer, K. (Krista), Franceschini, N. (Nora), Frayling, T.M. (Timothy), Girotto, S., Gonzalez, J.R. (Juan), Harris, T.B. (Tamara), Heath, A.C. (Andrew), Heid, I.M. (Iris), Hoffmann, W. (Wolfgang), Hofman, A. (Albert), Horikoshi, M. (Momoko), Zhao, J.H. (Jing Hua), Jackson, A.U. (Anne), Hottenga, J.J. (Jouke Jan), Jula, A. (Antti), Kähönen, M. (Mika), Khaw, K-T. (Kay-Tee), Kiemeney, L.A.L.M. (Bart), Klopp, N. (Norman), Kutalik, Z. (Zoltán), Lagou, V. (Vasiliki), Launer, L.J. (Lenore), Lehtimäki, T. (Terho), Lemire, M. (Mathieu), Lokki, M.L., Loley, C. (Christina), Luan, J., Mangino, M. (Massimo), Leach, I.M. (Irene Mateo), Medland, S.E. (Sarah), Mihailov, E. (Evelin), Montgomery, G.W. (Grant), Navis, G. (Gerjan), Newnham, J.P. (John), Nieminen, M.S. (Markku), Palotie, A. (Aarno), Panoutsopoulou, K. (Kalliope), Peters, A. (Annette), Pirastu, N. (Nicola), Polasek, O. (Ozren), Rehnström, K. (Karola), Ripatti, S. (Samuli), Rivadeneira Ramirez, F. (Fernando), Robino, A. (Antonietta), Samani, N.J. (Nilesh), Shin, S.-Y., Sinisalo, J. (Juha), Smith, A.V. (Davey), Soranzo, N. (Nicole), Stolk, L. (Lisette), Swinkels, D.W. (Dorine), Tanaka, T. (Toshiko), Teumer, A. (Alexander), Tönjes, A. (Anke), Traglia, M. (Michela), Tuomilehto, J. (Jaakko), Valsesia, A. (Armand), Gilst, W.H. (Wiek) van, Meurs, J.B.J. (Joyce) van, Viikari, J. (Jorma), Vink, J.M. (Jacqueline), Waeber, G. (Gérard), Warrington, N.M. (Nicole), Widen, E. (Elisabeth), Willemsen, G.A.H.M. (Gonneke), Wright, A.F. (Alan), Zanke, C. (Christof), Zgaga, L. (Lina), Boehnke, M. (Michael), Adamo, P. (Pio) d', Geus, E.J.C. (Eco) de, Demerath, E.W. (Ellen), Heijer, M. (Martin) den, Hagen, K. (Knut), Ferrucci, L. (Luigi), Gieger, C. (Christian), Gudnason, V. (Vilmundur), Hayward, C. (Caroline), Hengstenberg, C. (Christian), Hudson, T.J. (Thomas), Jarvelin, M.-R. (Marjo-Riitta), Kogevinas, M. (Manolis), Loos, R.J.F. (Ruth), Martin, N.G. (Nicholas), Metspalu, A. (Andres), Pennell, C.E. (Craig), Penninx, B.W.J.H. (Brenda), Perola, M. (Markus), Raitakari, O. (Olli), Salomaa, V. (Veikko), Schreiber, S. (Stefan), Schunkert, H. (Heribert), Spector, T.D. (Timothy), Stumvoll, M. (Michael), Uitterlinden, A.G. (André), Ulivi, S. (Shelia), Harst, P. (Pim) van der, Vollenweider, P. (Peter), Völzke, H. (Henry), Wareham, N.J. (Nick), Wichmann, H.E. (Heinz Erich), Wilson, J.F. (James), Rudan, I. (Igor), Xue, Y. (Yali), Zeggini, E. (Eleftheria), and Ritchie, G.R.S. (Graham)
Abstract: The male-to-female sex ratio at birth is constant across world populations with an average of 1.06 (106 male to 100 female live births) for populations of European descent. The sex ratio is considered to be affected by numerous biological and environmental factors and to have a heritable component. The aim of this study was to investigate the presence of common allele modest effects at autosomal and chromosome X variants that could explain the observed sex ratio at birth. We conducted a large-scale genome-wide association scan (GWAS) meta-analysis across 51 studies, comprising overall 114 863 individuals (61 094 women and 53 769 men) of European ancestry and 2 623 828 common (minor allele frequency >0.05) single-nucleotide polymorphisms (SNPs). Allele frequencies were compared between men and women for directly-typed and imputed variants within each study. Forward-time simulations for unlinked, neutral, autosomal, common loci were performed under the demographic model for European populations with a fixed sex ratio and a random mating scheme to assess the probability of detecting significant allele frequency differences. We do not detect any genome-wide significant (P < 5 × 10-8) common SNP differences between men and women in this well-powered meta-analysis. The simulated data provided results entirely consistent with these findings. This large-scale investigation across ~115 000 individuals shows no detectable contribution from common genetic variants to the observed skew in the sex ratio. The absence of sex-specific differences is useful in guiding genetic association study design, for example when using mixed controls for sex-biased traits.
Published: 2012
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55. Common genetic determinants of intraocular pressure and primary open-angle Glaucoma

Author: Koolwijk, L.M.E. (Leonieke) van, Ramdas, W.D. (Wishal), Ikram, M.K. (Kamran), Jansonius, N.M. (Nomdo), Pasutto, F. (Francesca), Hysi, P.G. (Pirro), MacGregor, S. (Stuart), Janssen, S.F. (Sarah), Hewit, A.W. (Alex), Viswanathan, A.C. (Ananth), Brink, J.B. (Jacoline) ten, Hosseini, M. (Mehran), Amin, N. (Najaf), Despriet, D.D.G. (Dominique), Willemse-Assink, J.J.M. (Jacqueline), Kramer, R. (Rogier), Rivadeneira Ramirez, F. (Fernando), Struchalin, M.V. (Maksim), Aulchenko, Y.S. (Yurii), Weisschuh, N. (Nicole), Zenkel, M. (Matthias), Mardin, C.Y. (Christian), Gramer, E. (Eugen), Welge-Lüssen, U. (Ulrich), Montgomery, G.W. (Grant), Carbonaro, F. (Francis), Young, T.L. (Terri), Bellenguez, C. (Céline), Mcguffin, P. (Peter), Foster, P.J. (Paul), Topouzis, F. (Fotis), Mitchell, P. (Paul), Wang, J.J. (Jie Jin), Wong, T.Y. (Tien Yin), Czudowska, M.A. (Monika), Hofman, A. (Albert), Uitterlinden, A.G. (André), Wolfs, R.C.W. (Roger), Jong, P.T.V.M. (Paulus) de, Oostra, B.A. (Ben), Paterson, A.D. (Andrew), Mackey, D.A. (David), Bergen, A.A.B. (Arthur), Reis, A. (André), Hammond, C.J. (Christopher), Vingerling, J.R. (Hans), Lemij, H.G. (Hans), Klaver, C.C.W. (Caroline), Duijn, C.M. (Cornelia) van, Koolwijk, L.M.E. (Leonieke) van, Ramdas, W.D. (Wishal), Ikram, M.K. (Kamran), Jansonius, N.M. (Nomdo), Pasutto, F. (Francesca), Hysi, P.G. (Pirro), MacGregor, S. (Stuart), Janssen, S.F. (Sarah), Hewit, A.W. (Alex), Viswanathan, A.C. (Ananth), Brink, J.B. (Jacoline) ten, Hosseini, M. (Mehran), Amin, N. (Najaf), Despriet, D.D.G. (Dominique), Willemse-Assink, J.J.M. (Jacqueline), Kramer, R. (Rogier), Rivadeneira Ramirez, F. (Fernando), Struchalin, M.V. (Maksim), Aulchenko, Y.S. (Yurii), Weisschuh, N. (Nicole), Zenkel, M. (Matthias), Mardin, C.Y. (Christian), Gramer, E. (Eugen), Welge-Lüssen, U. (Ulrich), Montgomery, G.W. (Grant), Carbonaro, F. (Francis), Young, T.L. (Terri), Bellenguez, C. (Céline), Mcguffin, P. (Peter), Foster, P.J. (Paul), Topouzis, F. (Fotis), Mitchell, P. (Paul), Wang, J.J. (Jie Jin), Wong, T.Y. (Tien Yin), Czudowska, M.A. (Monika), Hofman, A. (Albert), Uitterlinden, A.G. (André), Wolfs, R.C.W. (Roger), Jong, P.T.V.M. (Paulus) de, Oostra, B.A. (Ben), Paterson, A.D. (Andrew), Mackey, D.A. (David), Bergen, A.A.B. (Arthur), Reis, A. (André), Hammond, C.J. (Christopher), Vingerling, J.R. (Hans), Lemij, H.G. (Hans), Klaver, C.C.W. (Caroline), and Duijn, C.M. (Cornelia) van
Abstract: Intraocular pressure (IOP) is a highly heritable risk factor for primary open-angle glaucoma and is the only target for current glaucoma therapy. The genetic factors which determine IOP are largely unknown. We performed a geno
Published: 2012
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56. A genome-wide screen for interactions reveals a new locus on 4p15 modifying the effect of waist-to-hip ratio on total cholesterol

Author: Surakka, I. (Ida), Isaacs, A.J. (Aaron), Karssen, L.C. (Lennart), Laurila, P.-P.P., Middelberg, R.P.S. (Rita), Tikkanen, E. (Emmi), Ried, J.S. (Janina), Lamina, C. (Claudia), Mangino, M. (Massimo), Igl, W. (Wilmar), Hottenga, J.J. (Jouke Jan), Lagou, V. (Vasiliki), Harst, P. (Pim) van der, Leach, I.M. (Irene Mateo), Esko, T. (Tõnu), Kutalik, Z. (Zoltán), Wainwright, N.W. (Nicholas), Struchalin, M.V. (Maksim), Sarin, A.-P., Kangas, A.J. (Antti), Viikari, J. (Jorma), Perola, M. (Markus), Rantanen, T. (Taina), Petersen, A.K., Soininen, P. (Pasi), Johansson, A. (Åsa), Soranzo, N. (Nicole), Heath, A.C. (Andrew), Papamarkou, T. (Theodore), Prokopenko, I. (Inga), Tönjes, A. (Anke), Kronenberg, F. (Florian), Döring, A. (Angela), Rivadeneira Ramirez, F. (Fernando), Montgomery, G.W. (Grant), Whitfield, J.B. (John), Kähönen, M. (Mika), Lehtimäki, T. (Terho), Freimer, N.B. (Nelson), Willemsen, G.A.H.M. (Gonneke), Geus, E.J.C. (Eco) de, Palotie, A. (Aarno), Sandhu, M.S. (Manj), Waterworth, D. (Dawn), Metspalu, A. (Andres), Stumvoll, M. (Michael), Uitterlinden, A.G. (André), Jula, A. (Antti), Navis, G. (Gerjan), Wijmenga, C. (Cisca), Wolffenbuttel, B.H.R. (Bruce), Taskinen, M.-R., Ala-Korpela, M. (Mika), Kaprio, J. (Jaakko), Kyvik, K.O. (Kirsten Ohm), Boomsma, D.I. (Dorret), Pedersen, N.L. (Nancy), Gyllensten, U. (Ulf), Wilson, J.F. (James), Rudan, I. (Igor), Campbell, H. (Harry), Pramstaller, P.P. (Peter Paul), Spector, T.D. (Timothy), Witteman, J.C.M. (Jacqueline), Eriksson, J.G. (Johan), Salomaa, V. (Veikko), Oostra, B.A. (Ben), Raitakari, O. (Olli), Wichmann, H.E. (Heinz Erich), Gieger, C. (Christian), Järvelin, M.R., Martin, N.G. (Nicholas), Hofman, A. (Albert), McCarthy, M.I. (Mark), Aulchenko, Y.S. (Yurii), Peltonen, L. (Leena Johanna), Tikka-Kleemola, P. (Päivi), Ripatti, S. (Samuli), Surakka, I. (Ida), Isaacs, A.J. (Aaron), Karssen, L.C. (Lennart), Laurila, P.-P.P., Middelberg, R.P.S. (Rita), Tikkanen, E. (Emmi), Ried, J.S. (Janina), Lamina, C. (Claudia), Mangino, M. (Massimo), Igl, W. (Wilmar), Hottenga, J.J. (Jouke Jan), Lagou, V. (Vasiliki), Harst, P. (Pim) van der, Leach, I.M. (Irene Mateo), Esko, T. (Tõnu), Kutalik, Z. (Zoltán), Wainwright, N.W. (Nicholas), Struchalin, M.V. (Maksim), Sarin, A.-P., Kangas, A.J. (Antti), Viikari, J. (Jorma), Perola, M. (Markus), Rantanen, T. (Taina), Petersen, A.K., Soininen, P. (Pasi), Johansson, A. (Åsa), Soranzo, N. (Nicole), Heath, A.C. (Andrew), Papamarkou, T. (Theodore), Prokopenko, I. (Inga), Tönjes, A. (Anke), Kronenberg, F. (Florian), Döring, A. (Angela), Rivadeneira Ramirez, F. (Fernando), Montgomery, G.W. (Grant), Whitfield, J.B. (John), Kähönen, M. (Mika), Lehtimäki, T. (Terho), Freimer, N.B. (Nelson), Willemsen, G.A.H.M. (Gonneke), Geus, E.J.C. (Eco) de, Palotie, A. (Aarno), Sandhu, M.S. (Manj), Waterworth, D. (Dawn), Metspalu, A. (Andres), Stumvoll, M. (Michael), Uitterlinden, A.G. (André), Jula, A. (Antti), Navis, G. (Gerjan), Wijmenga, C. (Cisca), Wolffenbuttel, B.H.R. (Bruce), Taskinen, M.-R., Ala-Korpela, M. (Mika), Kaprio, J. (Jaakko), Kyvik, K.O. (Kirsten Ohm), Boomsma, D.I. (Dorret), Pedersen, N.L. (Nancy), Gyllensten, U. (Ulf), Wilson, J.F. (James), Rudan, I. (Igor), Campbell, H. (Harry), Pramstaller, P.P. (Peter Paul), Spector, T.D. (Timothy), Witteman, J.C.M. (Jacqueline), Eriksson, J.G. (Johan), Salomaa, V. (Veikko), Oostra, B.A. (Ben), Raitakari, O. (Olli), Wichmann, H.E. (Heinz Erich), Gieger, C. (Christian), Järvelin, M.R., Martin, N.G. (Nicholas), Hofman, A. (Albert), McCarthy, M.I. (Mark), Aulchenko, Y.S. (Yurii), Peltonen, L. (Leena Johanna), Tikka-Kleemola, P. (Päivi), and Ripatti, S. (Samuli)
Abstract: Recent genome-wide association (GWA) studies described 95 loci controlling serum lipid levels. These common variants explain ~25% of the heritability of the phenotypes. To date, no unbiased screen for gene-environment interactions for circulating lipids has been reported. We screened for variants that modify the relationship between known epidemiological risk factors and circulating lipid levels in a meta-analysis of genome-wide association (GWA) data from 18 population-based cohorts with European ancestry (maximum N = 32,225). We collected 8 further cohorts (N = 17,102) for replication, and rs6448771 on 4p15 demonstrated genome-wide significant interaction with waist-to-hip-ratio (WHR) on total cholesterol (TC) with a combined P-value of 4.79×10-9. There were two potential candidate genes in the region, PCDH7 and CCKAR, with differential expression levels for rs6448771 genotypes in adipose tissue. The effect of WHR on TC was strongest for individuals carrying two copies of G allele, for whom a one standard deviation (sd) difference in WHR corresponds to 0.19 sd difference in TC concentration, while for A allele homozygous the difference was 0.12 sd. Our findings may open up possibilities for targeted intervention strategies for people characterized by specific genomic profiles. However, more refined measures of both body-fat distribution and metabolic measures are needed to understand how their joint dynamics are modified by the newly found locus.
Published: 2011
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57. Meta-analysis of genome-wide association for migraine in six population-based European cohorts

Author: Ligthart, L. (Lannie), Vries, B. (Boukje) de, Smith, A.V. (Albert Vernon), Ikram, M.A. (Arfan), Amin, N. (Najaf), Hottenga, J.J. (Jouke Jan), Koelewijn, S.C. (Stephany C.), Kattenberg, V.M. (Mathijs), Moor, M.H.M. de, Janssens, A.C.J.W. (Cécile), Aulchenko, Y.S. (Yurii), Oostra, B.A. (Ben), Geus, E.J.C. (Eco) de, Smit, J.H. (Johannes), Zitman, F.G. (Frans), Uitterlinden, A.G. (André), Hofman, A. (Albert), Willemsen, G.A.H.M. (Gonneke), Nyholt, D.R. (Dale), Montgomery, G.W. (Grant), Terwindt, G.M. (Gisela), Gudnason, V. (Vilmundur), Penninx, B.W.J.H. (Brenda), Breteler, L.M.T. (Leonie), Ferrari, M.D. (Michel), Launer, L.J. (Lenore), Tikka-Kleemola, P. (Päivi), Maagdenberg, A.M.J.M. (Arn) van den, Boomsma, D.I. (Dorret), Ligthart, L. (Lannie), Vries, B. (Boukje) de, Smith, A.V. (Albert Vernon), Ikram, M.A. (Arfan), Amin, N. (Najaf), Hottenga, J.J. (Jouke Jan), Koelewijn, S.C. (Stephany C.), Kattenberg, V.M. (Mathijs), Moor, M.H.M. de, Janssens, A.C.J.W. (Cécile), Aulchenko, Y.S. (Yurii), Oostra, B.A. (Ben), Geus, E.J.C. (Eco) de, Smit, J.H. (Johannes), Zitman, F.G. (Frans), Uitterlinden, A.G. (André), Hofman, A. (Albert), Willemsen, G.A.H.M. (Gonneke), Nyholt, D.R. (Dale), Montgomery, G.W. (Grant), Terwindt, G.M. (Gisela), Gudnason, V. (Vilmundur), Penninx, B.W.J.H. (Brenda), Breteler, L.M.T. (Leonie), Ferrari, M.D. (Michel), Launer, L.J. (Lenore), Tikka-Kleemola, P. (Päivi), Maagdenberg, A.M.J.M. (Arn) van den, and Boomsma, D.I. (Dorret)
Abstract: Migraine is a common neurological disorder with a genetically complex background. This paper describes a meta-analysis of genome-wide association (GWA) studies on migraine, performed by the Dutch-Icelandic migraine genetics (DICE) consortium, which brings together six population-based European migra
Published: 2011
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58. Genetic architecture of circulating lipid levels

Author: Demirkan, A. (Ayşe), Amin, N. (Najaf), Isaacs, A.J. (Aaron), Järvelin, M.R., Whitfield, J.B. (John), Wichmann, H.E. (Heinz Erich), Kyvik, K.O. (Kirsten Ohm), Rudan, I. (Igor), Gieger, C. (Christian), Hicks, A.A. (Andrew), Johansson, A. (Åsa), Hottenga, J.J. (Jouke Jan), Smith, J.J. (Johannes), Wild, S.H. (Sarah), Pedersen, N.L. (Nancy), Willemsen, G.A.H.M. (Gonneke), Mangino, M. (Massimo), Hayward, C. (Caroline), Uitterlinden, A.G. (André), Hofman, A. (Albert), Witteman, J.C.M. (Jacqueline), Montgomery, G.W. (Grant), Pietilainen, K.H. (Kirsi Hannele), Rantanen, T. (Taina), Kaprio, J. (Jaakko), Döring, A. (Angela), Pramstaller, P.P. (Peter Paul), Gyllensten, U. (Ulf), Geus, E.J.C. (Eco) de, Penninx, B.W.J.H. (Brenda), Wilson, J.F. (James), Rivadeneria, F. (Fernando), Magnusson, P.K. (Patrik), Boomsma, D.I. (Dorret), Spector, T.D. (Timothy), Campbell, H. (Harry), Hoehne, B. (Birgit), Martin, N.G. (Nicholas), Oostra, B.A. (Ben), McCarthy, M.I. (Mark), Peltonen-Palotie, L. (Leena), Aulchenko, Y.S. (Yurii), Visscher, P.M. (Peter), Ripatti, S. (Samuli), Janssens, A.C.J.W. (Cécile), Tikka-Kleemola, P. (Päivi), Demirkan, A. (Ayşe), Amin, N. (Najaf), Isaacs, A.J. (Aaron), Järvelin, M.R., Whitfield, J.B. (John), Wichmann, H.E. (Heinz Erich), Kyvik, K.O. (Kirsten Ohm), Rudan, I. (Igor), Gieger, C. (Christian), Hicks, A.A. (Andrew), Johansson, A. (Åsa), Hottenga, J.J. (Jouke Jan), Smith, J.J. (Johannes), Wild, S.H. (Sarah), Pedersen, N.L. (Nancy), Willemsen, G.A.H.M. (Gonneke), Mangino, M. (Massimo), Hayward, C. (Caroline), Uitterlinden, A.G. (André), Hofman, A. (Albert), Witteman, J.C.M. (Jacqueline), Montgomery, G.W. (Grant), Pietilainen, K.H. (Kirsi Hannele), Rantanen, T. (Taina), Kaprio, J. (Jaakko), Döring, A. (Angela), Pramstaller, P.P. (Peter Paul), Gyllensten, U. (Ulf), Geus, E.J.C. (Eco) de, Penninx, B.W.J.H. (Brenda), Wilson, J.F. (James), Rivadeneria, F. (Fernando), Magnusson, P.K. (Patrik), Boomsma, D.I. (Dorret), Spector, T.D. (Timothy), Campbell, H. (Harry), Hoehne, B. (Birgit), Martin, N.G. (Nicholas), Oostra, B.A. (Ben), McCarthy, M.I. (Mark), Peltonen-Palotie, L. (Leena), Aulchenko, Y.S. (Yurii), Visscher, P.M. (Peter), Ripatti, S. (Samuli), Janssens, A.C.J.W. (Cécile), and Tikka-Kleemola, P. (Päivi)
Abstract: Serum concentrations of low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), triglycerides (TGs) and total cholesterol (TC) are important heritable risk factors for cardiovascular disease. Although genome-wide association studies (GWASs) of circulating lipid levels have identified numerous loci, a substantial portion of the heritability of these traits remains unexplained. Evidence of unexplained genetic variance can be detected by combining multiple independent markers into additive genetic risk scores. Such polygenic scores, constructed using results from the ENGAGE Consortium GWAS on serum lipids, were applied to predict lipid levels in an independent population-based study, the Rotterdam Study-II (RS-II). We additionally tested for evidence of a shared genetic basis for different lipid phenotypes. Finally, the polygenic score approach was used to identify an alternative genome-wide significance threshold before pathway analysis and those results were compared with those based on the classical genome-wide significance threshold. Our study provides evidence suggesting that many loci influencing circulating lipid levels remain undiscovered. Cross-prediction models suggested a small overlap between the polygenic backgrounds involved in determining LDL-C, HDL-C and TG levels. Pathway analysis utilizing the best polygenic score for TC uncovered extra information compared with using only genome-wide significant loci. These results suggest that the genetic architecture of circulating lipids involves a number of undiscovered variants with very small effects, and that increasing GWAS sample sizes will enable the identification of novel variants that regulate lipid levels.
Published: 2011
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59. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

Author: Elks, C.E. (Cathy), Perry, J.R.B. (John), Sulem, P. (Patrick), Chasman, D.I. (Daniel), Franceschini, N. (Nora), He, C. (Chunyan), Lunetta, K.L. (Kathryn), Visser, J.A. (Jenny), Byrne, E.M. (Enda), Cousminer, D.L. (Diana), Gudbjartsson, D.F. (Daniel), Esko, T. (Tõnu), Feenstra, B. (Bjarke), Hottenga, J.J. (Jouke Jan), Koller, D.L. (Daniel), Kutalik, Z. (Zoltán), Lin, P. (Peng), Mangino, M. (Massimo), Marongiu, M. (Mara), McArdle, P.F. (Patrick), Smith, A.V. (Albert Vernon), Stolk, L. (Lisette), Wingerden, S. (Sophie) van, Zhao, J.H. (Jing Hua), Albrecht, E. (Eva), Corre, T. (Tanguy), Ingelsson, E. (Erik), Hayward, C. (Caroline), Magnusson, P.K. (Patrik), Ulivi, S. (Shelia), Warrington, N.M. (Nicole), Zgaga, L. (Lina), Alavere, H. (Helene), Amin, N. (Najaf), Aspelund, T. (Thor), Bandinelli, S. (Stefania), Barroso, I.E. (Inês), Berenson, G. (Gerald), Bergmann, S.M. (Sven), Blackburn, H. (Hannah), Boerwinkle, E.A. (Eric), Buring, J.E. (Julie), Busonero, F., Campbell, H. (Harry), Chanock, S.J. (Stephen), Chen, W. (Wei), Cornelis, M. (Marilyn), Couper, D.J. (David), Coviello, A.D. (Andrea), Adamo, P. (Pio) d', Faire, U. (Ulf) de, Geus, E.J.C. (Eco) de, Deloukas, P. (Panagiotis), Döring, A. (Angela), Easton, D.F. (Douglas), Eiriksdottir, G. (Gudny), Emilsson, V. (Valur), Eriksson, J.G. (Johan), Ferrucci, L. (Luigi), Folsom, A.R. (Aaron), Foroud, T. (Tatiana), Garcia, M. (Melissa), Gasparini, P. (Paolo), Geller, F. (Frank), Gieger, C. (Christian), Gudnason, V. (Vilmundur), Hall, A.S. (Alistair), Hankinson, S.E. (Susan), Ferreli, L. (Liana), Heath, A.C. (Andrew), Hernandez, D.G. (Dena), Hofman, A. (Albert), Hu, F.B. (Frank), Illig, T. (Thomas), Järvelin, M.R., Johnson, A.D. (Andrew), Karasik, D. (David), Khaw, K-T. (Kay-Tee), Kiel, D.P. (Douglas), Kilpelänen, T.O. (Tuomas), Kolcic, I. (Ivana), Kraft, P. (Peter), Launer, L.J. (Lenore), Laven, J.S.E. (Joop), Li, S. (Shengxu), Liu, J. (Jianjun), Levy, D. (Daniel), Martin, N.G. (Nicholas), Melbye, M. (Mads), Mooser, V. (Vincent), Murray, J.C. (Jeffrey), Nalls, M.A. (Michael), Navarro, P. (Pau), Nelis, M. (Mari), Ness, A.R. (Andrew), Northstone, K. (Kate), Oostra, B.A. (Ben), Peacock, M. (Munro), Palmer, C. (Cameron), Palotie, A. (Aarno), Paré, G. (Guillaume), Parker, A.N. (Alex), Pedersen, N.L. (Nancy), Peltonen, L. (Leena Johanna), Pennell, C.E. (Craig), Pharoah, P.D.P. (Paul), Polasek, O. (Ozren), Plump, A.S. (Andrew), Pouta, A. (Anneli), Porcu, E. (Eleonora), Rafnar, T. (Thorunn), Rice, J.P. (John), Ring, S.M. (Susan), Rivadeneira Ramirez, F. (Fernando), Rudan, I. (Igor), Sala, C. (Cinzia), Salomaa, V. (Veikko), Sanna, S. (Serena), Schlessinger, D., Schork, N.J. (Nicholas), Scuteri, A. (Angelo), Segrè, A.V. (Ayellet), Shuldiner, A.R. (Alan), Soranzo, N. (Nicole), Sovio, U. (Ulla), Srinivasan, S.R. (Sathanur), Strachan, D.P. (David), Tammesoo, M.L., Tikkanen, E. (Emmi), Toniolo, D. (Daniela), Tsui, K. (Kim), Tryggvadottir, L. (Laufey), Tyrer, J.P. (Jonathan), Uda, M. (Manuela), Dam, R.M. (Rob) van, Meurs, J.B.J. (Joyce) van, Vollenweider, P. (Peter), Waeber, G. (Gérard), Wareham, N.J. (Nick), Waterworth, D. (Dawn), Wichmann, H.E. (Heinz Erich), Willemsen, G.A.H.M. (Gonneke), Wilson, J.F. (James), Wright, A.F. (Alan), Young, L. (Lauren), Zhai, G. (Guangju), Zhuang, W.V., Bierut, L.J. (Laura), Boomsma, D.I. (Dorret), Boyd, H.A. (Heather), Crisponi, L. (Laura), Demerath, E.W. (Ellen), Tikka-Kleemola, P. (Päivi), Econs, M.J. (Michael), Harris, T.B. (Tamara), Hunter, D. (David), Loos, R.J.F. (Ruth), Metspalu, A. (Andres), Montgomery, G.W. (Grant), Ridker, P.M. (Paul), Spector, T.D. (Timothy), Streeten, E.A. (Elizabeth), Stefansson, K. (Kari), Thorsteinsdottir, U. (Unnur), Uitterlinden, A.G. (André), Widen, E. (Elisabeth), Murabito, J. (Joanne), Ong, K. (Ken), Weedon, M.N. (Michael), Elks, C.E. (Cathy), Perry, J.R.B. (John), Sulem, P. (Patrick), Chasman, D.I. (Daniel), Franceschini, N. (Nora), He, C. (Chunyan), Lunetta, K.L. (Kathryn), Visser, J.A. (Jenny), Byrne, E.M. (Enda), Cousminer, D.L. (Diana), Gudbjartsson, D.F. (Daniel), Esko, T. (Tõnu), Feenstra, B. (Bjarke), Hottenga, J.J. (Jouke Jan), Koller, D.L. (Daniel), Kutalik, Z. (Zoltán), Lin, P. (Peng), Mangino, M. (Massimo), Marongiu, M. (Mara), McArdle, P.F. (Patrick), Smith, A.V. (Albert Vernon), Stolk, L. (Lisette), Wingerden, S. (Sophie) van, Zhao, J.H. (Jing Hua), Albrecht, E. (Eva), Corre, T. (Tanguy), Ingelsson, E. (Erik), Hayward, C. (Caroline), Magnusson, P.K. (Patrik), Ulivi, S. (Shelia), Warrington, N.M. (Nicole), Zgaga, L. (Lina), Alavere, H. (Helene), Amin, N. (Najaf), Aspelund, T. (Thor), Bandinelli, S. (Stefania), Barroso, I.E. (Inês), Berenson, G. (Gerald), Bergmann, S.M. (Sven), Blackburn, H. (Hannah), Boerwinkle, E.A. (Eric), Buring, J.E. (Julie), Busonero, F., Campbell, H. (Harry), Chanock, S.J. (Stephen), Chen, W. (Wei), Cornelis, M. (Marilyn), Couper, D.J. (David), Coviello, A.D. (Andrea), Adamo, P. (Pio) d', Faire, U. (Ulf) de, Geus, E.J.C. (Eco) de, Deloukas, P. (Panagiotis), Döring, A. (Angela), Easton, D.F. (Douglas), Eiriksdottir, G. (Gudny), Emilsson, V. (Valur), Eriksson, J.G. (Johan), Ferrucci, L. (Luigi), Folsom, A.R. (Aaron), Foroud, T. (Tatiana), Garcia, M. (Melissa), Gasparini, P. (Paolo), Geller, F. (Frank), Gieger, C. (Christian), Gudnason, V. (Vilmundur), Hall, A.S. (Alistair), Hankinson, S.E. (Susan), Ferreli, L. (Liana), Heath, A.C. (Andrew), Hernandez, D.G. (Dena), Hofman, A. (Albert), Hu, F.B. (Frank), Illig, T. (Thomas), Järvelin, M.R., Johnson, A.D. (Andrew), Karasik, D. (David), Khaw, K-T. (Kay-Tee), Kiel, D.P. (Douglas), Kilpelänen, T.O. (Tuomas), Kolcic, I. (Ivana), Kraft, P. (Peter), Launer, L.J. (Lenore), Laven, J.S.E. (Joop), Li, S. (Shengxu), Liu, J. (Jianjun), Levy, D. (Daniel), Martin, N.G. (Nicholas), Melbye, M. (Mads), Mooser, V. (Vincent), Murray, J.C. (Jeffrey), Nalls, M.A. (Michael), Navarro, P. (Pau), Nelis, M. (Mari), Ness, A.R. (Andrew), Northstone, K. (Kate), Oostra, B.A. (Ben), Peacock, M. (Munro), Palmer, C. (Cameron), Palotie, A. (Aarno), Paré, G. (Guillaume), Parker, A.N. (Alex), Pedersen, N.L. (Nancy), Peltonen, L. (Leena Johanna), Pennell, C.E. (Craig), Pharoah, P.D.P. (Paul), Polasek, O. (Ozren), Plump, A.S. (Andrew), Pouta, A. (Anneli), Porcu, E. (Eleonora), Rafnar, T. (Thorunn), Rice, J.P. (John), Ring, S.M. (Susan), Rivadeneira Ramirez, F. (Fernando), Rudan, I. (Igor), Sala, C. (Cinzia), Salomaa, V. (Veikko), Sanna, S. (Serena), Schlessinger, D., Schork, N.J. (Nicholas), Scuteri, A. (Angelo), Segrè, A.V. (Ayellet), Shuldiner, A.R. (Alan), Soranzo, N. (Nicole), Sovio, U. (Ulla), Srinivasan, S.R. (Sathanur), Strachan, D.P. (David), Tammesoo, M.L., Tikkanen, E. (Emmi), Toniolo, D. (Daniela), Tsui, K. (Kim), Tryggvadottir, L. (Laufey), Tyrer, J.P. (Jonathan), Uda, M. (Manuela), Dam, R.M. (Rob) van, Meurs, J.B.J. (Joyce) van, Vollenweider, P. (Peter), Waeber, G. (Gérard), Wareham, N.J. (Nick), Waterworth, D. (Dawn), Wichmann, H.E. (Heinz Erich), Willemsen, G.A.H.M. (Gonneke), Wilson, J.F. (James), Wright, A.F. (Alan), Young, L. (Lauren), Zhai, G. (Guangju), Zhuang, W.V., Bierut, L.J. (Laura), Boomsma, D.I. (Dorret), Boyd, H.A. (Heather), Crisponi, L. (Laura), Demerath, E.W. (Ellen), Tikka-Kleemola, P. (Päivi), Econs, M.J. (Michael), Harris, T.B. (Tamara), Hunter, D. (David), Loos, R.J.F. (Ruth), Metspalu, A. (Andres), Montgomery, G.W. (Grant), Ridker, P.M. (Paul), Spector, T.D. (Timothy), Streeten, E.A. (Elizabeth), Stefansson, K. (Kari), Thorsteinsdottir, U. (Unnur), Uitterlinden, A.G. (André), Widen, E. (Elisabeth), Murabito, J. (Joanne), Ong, K. (Ken), and Weedon, M.N. (Michael)
Abstract: To identify loci for age at menarche, we performed a meta-analysis of 32 genome-wide association studies in 87,802 women of European descent, with replication in up to 14,731 women. In addition to the known loci at LIN28B (P = 5.4 × 10 -60) and 9q31.2 (P = 2.2 × 10 -33), we identified 30 new menarche loci (all P < 5 × 10 -8) and found suggestive evidence for a further 10 loci (P < 1.9 × 10 -6). The new loci included four previously associated
Published: 2010
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60. Hundreds of variants clustered in genomic loci and biological pathways affect human height

Author: Allen, H.L., Estrada Gil, K. (Karol), Lettre, G. (Guillaume), Berndt, S.I. (Sonja), Rivadeneira Ramirez, F. (Fernando), Willer, C.J. (Cristen), Jackson, A.U. (Anne), Vedantam, S. (Sailaja), Raychaudhuri, S. (Soumya), Ferreira, T. (Teresa), Wood, A.R. (Andrew), Weyant, R.J. (Robert), Segrè, A.V. (Ayellet), Speliotes, E.K. (Elizabeth), Wheeler, E. (Eleanor), Soranzo, N. (Nicole), Park, J.H., Yang, J. (Joanna), Gudbjartsson, D.F. (Daniel), Heard-Costa, N.L. (Nancy), Randall, J.C. (Joshua), Qi, L. (Lu), Smith, A.V. (Albert Vernon), Mägi, R. (Reedik), Pastinen, T. (Tomi), Liang, L. (Liming), Heid, I.M. (Iris), Luan, J., Thorleifsson, G. (Gudmar), Winkler, T.W. (Thomas), Goddard, M.E. (Michael), Lo, K.S., Palmer, C. (Cameron), Workalemahu, T. (Tsegaselassie), Aulchenko, Y.S. (Yurii), Johansson, A. (Åsa), Zillikens, M.C. (Carola), Feitosa, M.F. (Mary Furlan), Esko, T. (Tõnu), Johnson, T. (Toby), Ketkar, S. (Shamika), Kraft, P. (Peter), Mangino, M. (Massimo), Prokopenko, I. (Inga), Absher, D. (Devin), Albrecht, E. (Eva), Ernst, F.D.J. (Florian), Glazer, N.L. (Nicole), Hayward, C. (Caroline), Hottenga, J.J. (Jouke Jan), Jacobs, K.B. (Kevin), Knowles, J.W. (Joshua), Kutalik, Z. (Zoltán), Monda, K.L. (Keri), Polasek, O. (Ozren), Preuss, M. (Michael), Rayner, N.W. (Nigel William), Robertson, N.R. (Neil), Steinthorsdottir, V. (Valgerdur), Tyrer, J.P. (Jonathan), Voight, B.F. (Benjamin), Wiklund, F. (Fredrik), Xu, J. (Jianfeng), Zhao, J.H. (Jing Hua), Nyholt, D.R. (Dale), Pellikka, N. (Niina), Perola, M. (Markus), Perry, J.R.B. (John), Surakka, I. (Ida), Tammesoo, M.L., Altmaier, E.L. (Elizabeth), Amin, N. (Najaf), Aspelund, T. (Thor), Bhangale, T. (Tushar), Boucher, G. (Gabrielle), Chasman, D.I. (Daniel), Chen, C. (Constance), Coin, L. (Lachlan), Cooper, M.N. (Matthew), Dixon, A.L. (Anna), Gibson, Q. (Quince), Grundberg, E. (Elin), Hao, K. (Ke), Junttila, M.J. (Juhani), Kaplan, R.C. (Robert), Kettunen, J. (Johannes), König, I.R. (Inke), Kwan, T. (Tony), Lawrence, R.W. (Robert), Levinson, D.F. (Douglas), Lorentzon, M. (Mattias), McKnight, B. (Barbara), Morris, A.D. (Andrew), Müller, M. (Martina), Ngwa, J.S., Purcell, S. (Shaun), Rafelt, S. (Suzanne), Salem, R.M. (Rany), Salvi, E. (Erika), Sanna, S. (Serena), Shi, J. (Jianxin), Sovio, U. (Ulla), Thompson, J.R. (John), Turchin, M.C. (Michael), Vandenput, L. (Liesbeth), Verlaan, D.J. (Dominique), Vitart, V. (Veronique), White, C.C. (Charles), Ziegler, A. (Andreas), Almgren, P. (Peter), Balmforth, A.J. (Anthony), Campbell, H. (Harry), Citterio, L. (Lorena), Grandi, A. (Alessandro) de, Dominiczak, A. (Anna), Duan, J. (Jubao), Elliott, P. (Paul), Elosua, R. (Roberto), Eriksson, J.G. (Johan), Freimer, N.B. (Nelson), Geus, E.J.C. (Eco) de, Glorioso, N. (Nicola), Haiqing, S. (Shen), Hartikainen, A.L., Havulinna, A.S. (Aki), Hicks, A.A. (Andrew), Hui, J. (Jennie), Igl, W. (Wilmar), Illig, T. (Thomas), Jula, A. (Antti), Kajantie, E. (Eero), Kilpeläinen, T.O. (Tuomas), Koiranen, M. (Markku), Kolcic, I. (Ivana), Koskinen, S. (Seppo), Kovacs, P. (Peter), Laitinen, J. (Jaana), Liu, J. (Jianjun), Lokki, M.L., Marusic, A. (Ana), Maschio, A., Meitinger, T. (Thomas), Mulas, A. (Antonella), Paré, G. (Guillaume), Parker, A.N. (Alex), Peden, J. (John), Petersmann, A. (Astrid), Pichler, I. (Irene), Pietilainen, K.H. (Kirsi Hannele), Pouta, A. (Anneli), Ridderstråle, M. (Martin), Rotter, J.I. (Jerome), Sambrook, J.G. (Jennifer), Sanders, A.R. (Alan), Schmidt, C.O. (Carsten Oliver), Sinisalo, J. (Juha), Smit, J.H. (Jan), Stringham, H.M. (Heather), Walters, G.B. (Bragi), Widen, E. (Elisabeth), Wild, S.H. (Sarah), Willemsen, G.A.H.M. (Gonneke), Zagato, L. (Laura), Zgaga, L. (Lina), Zitting, P. (Paavo), Alavere, H. (Helene), Farrall, M. (Martin), McArdle, W.L. (Wendy), Nelis, M. (Mari), Peters, M.J. (Marjolein), Ripatti, S. (Samuli), Meurs, J.B.J. (Joyce) van, Aben, K.K.H. (Katja), Beckmann, J.S. (Jacques), Beilby, J.P. (John), Bergman, R.N. (Richard), Bergmann, S.M. (Sven), Collins, F.S. (Francis), Cusi, D. (Daniele), Heijer, M. (Martin) den, Eiriksdottir, G. (Gudny), Gejman, P.V. (Pablo), Hall, A.S. (Alistair), Hamsten, A. (Anders), Huikuri, H.V. (Heikki), Iribarren, C. (Carlos), Kähönen, M. (Mika), Kaprio, J. (Jaakko), Kathiresan, S. (Sekar), Kiemeney, L.A.L.M. (Bart), Kocher, T. (Thomas), Launer, L.J. (Lenore), Lehtimäki, T. (Terho), Melander, O. (Olle), Mosley, T.H. (Thomas), Musk, A.W. (Arthur), Nieminen, M.S. (Markku), O'Donnell, C.J. (Christopher), Ohlsson, C. (Claes), Oostra, B.A. (Ben), Raitakari, O. (Olli), Ridker, P.M. (Paul), Rioux, J.D. (John), Rissanen, A. (Aila), Rivolta, C. (Carlo), Schunkert, H. (Heribert), Shuldiner, A.R. (Alan), Siscovick, D.S. (David), Stumvoll, M. (Michael), Tönjes, A. (Anke), Tuomilehto, J. (Jaakko), Ommen, G.J. (Gert) van, Viikari, J. (Jorma), Heath, A.C. (Andrew), Martin, N.G. (Nicholas), Montgomery, G.W. (Grant), Province, M.A. (Mike), Kayser, M.H. (Manfred), Arnold, A.M. (Alice), Atwood, L.D. (Larry), Boerwinkle, E.A. (Eric), Chanock, S.J. (Stephen), Deloukas, P. (Panagiotis), Gieger, C. (Christian), Grönberg, H. (Henrik), Hattersley, A.T. (Andrew), Hengstenberg, C. (Christian), Hoffman, W. (Wolfgang), Lathrop, G.M. (Mark), Salomaa, V. (Veikko), Schreiber, S. (Stefan), Uda, M. (Manuela), Waterworth, D. (Dawn), Wright, A.F. (Alan), Assimes, T.L. (Themistocles), Barroso, I.E. (Inês), Hofman, A. (Albert), Mohlke, K.L. (Karen), Boomsma, D.I. (Dorret), Caulfield, M. (Mark), Cupples, L.A. (Adrienne), Fox, C.S. (Caroline), Gudnason, V. (Vilmundur), Gyllensten, U. (Ulf), Harris, T.B. (Tamara), Hayes, R.B. (Richard), Järvelin, M.R., Mooser, V. (Vincent), Munroe, P. (Patricia), Ouwehand, W.H. (Willem), Penninx, B.W.J.H. (Brenda), Pramstaller, P.P. (Peter Paul), Quertermous, T. (Thomas), Rudan, I. (Igor), Samani, N.J. (Nilesh), Spector, T.D. (Timothy), Völzke, H. (Henry), Watkins, H. (Hugh), Wilson, J.F. (James), Groop, L. (Leif), Haritunians, T. (Talin), Hu, F.B. (Frank), Metspalu, A. (Andres), North, K.E. (Kari), Schlessinger, D., Wareham, N.J. (Nick), Hunter, D.J. (David), O´Connell, J.R., Strachan, D.P. (David), Wichmann, H.E. (Heinz Erich), Borecki, I.B. (Ingrid), Duijn, C.M. (Cornelia) van, Schadt, E.E. (Eric), Thorsteinsdottir, U. (Unnur), Peltonen, L. (Leena Johanna), Uitterlinden, A.G. (André), Visscher, P.M. (Peter), Chatterjee, N. (Nilanjan), Erdmann, J. (Jeanette), Loos, R.J.F. (Ruth), Boehnke, M. (Michael), McCarthy, M.I. (Mark), Ingelsson, E. (Erik), Lindgren, C.M. (Cecilia), Abecasis, G.R. (Gonçalo), Stefansson, K. (Kari), Frayling, T.M. (Timothy), Hirschhorn, J.N. (Joel), Ardlie, K.G. (Kristin), Weedon, M.N. (Michael), Allen, H.L., Estrada Gil, K. (Karol), Lettre, G. (Guillaume), Berndt, S.I. (Sonja), Rivadeneira Ramirez, F. (Fernando), Willer, C.J. (Cristen), Jackson, A.U. (Anne), Vedantam, S. (Sailaja), Raychaudhuri, S. (Soumya), Ferreira, T. (Teresa), Wood, A.R. (Andrew), Weyant, R.J. (Robert), Segrè, A.V. (Ayellet), Speliotes, E.K. (Elizabeth), Wheeler, E. (Eleanor), Soranzo, N. (Nicole), Park, J.H., Yang, J. (Joanna), Gudbjartsson, D.F. (Daniel), Heard-Costa, N.L. (Nancy), Randall, J.C. (Joshua), Qi, L. (Lu), Smith, A.V. (Albert Vernon), Mägi, R. (Reedik), Pastinen, T. (Tomi), Liang, L. (Liming), Heid, I.M. (Iris), Luan, J., Thorleifsson, G. (Gudmar), Winkler, T.W. (Thomas), Goddard, M.E. (Michael), Lo, K.S., Palmer, C. (Cameron), Workalemahu, T. (Tsegaselassie), Aulchenko, Y.S. (Yurii), Johansson, A. (Åsa), Zillikens, M.C. (Carola), Feitosa, M.F. (Mary Furlan), Esko, T. (Tõnu), Johnson, T. (Toby), Ketkar, S. (Shamika), Kraft, P. (Peter), Mangino, M. (Massimo), Prokopenko, I. (Inga), Absher, D. (Devin), Albrecht, E. (Eva), Ernst, F.D.J. (Florian), Glazer, N.L. (Nicole), Hayward, C. (Caroline), Hottenga, J.J. (Jouke Jan), Jacobs, K.B. (Kevin), Knowles, J.W. (Joshua), Kutalik, Z. (Zoltán), Monda, K.L. (Keri), Polasek, O. (Ozren), Preuss, M. (Michael), Rayner, N.W. (Nigel William), Robertson, N.R. (Neil), Steinthorsdottir, V. (Valgerdur), Tyrer, J.P. (Jonathan), Voight, B.F. (Benjamin), Wiklund, F. (Fredrik), Xu, J. (Jianfeng), Zhao, J.H. (Jing Hua), Nyholt, D.R. (Dale), Pellikka, N. (Niina), Perola, M. (Markus), Perry, J.R.B. (John), Surakka, I. (Ida), Tammesoo, M.L., Altmaier, E.L. (Elizabeth), Amin, N. (Najaf), Aspelund, T. (Thor), Bhangale, T. (Tushar), Boucher, G. (Gabrielle), Chasman, D.I. (Daniel), Chen, C. (Constance), Coin, L. (Lachlan), Cooper, M.N. (Matthew), Dixon, A.L. (Anna), Gibson, Q. (Quince), Grundberg, E. (Elin), Hao, K. (Ke), Junttila, M.J. (Juhani), Kaplan, R.C. (Robert), Kettunen, J. (Johannes), König, I.R. (Inke), Kwan, T. (Tony), Lawrence, R.W. (Robert), Levinson, D.F. (Douglas), Lorentzon, M. (Mattias), McKnight, B. (Barbara), Morris, A.D. (Andrew), Müller, M. (Martina), Ngwa, J.S., Purcell, S. (Shaun), Rafelt, S. (Suzanne), Salem, R.M. (Rany), Salvi, E. (Erika), Sanna, S. (Serena), Shi, J. (Jianxin), Sovio, U. (Ulla), Thompson, J.R. (John), Turchin, M.C. (Michael), Vandenput, L. (Liesbeth), Verlaan, D.J. (Dominique), Vitart, V. (Veronique), White, C.C. (Charles), Ziegler, A. (Andreas), Almgren, P. (Peter), Balmforth, A.J. (Anthony), Campbell, H. (Harry), Citterio, L. (Lorena), Grandi, A. (Alessandro) de, Dominiczak, A. (Anna), Duan, J. (Jubao), Elliott, P. (Paul), Elosua, R. (Roberto), Eriksson, J.G. (Johan), Freimer, N.B. (Nelson), Geus, E.J.C. (Eco) de, Glorioso, N. (Nicola), Haiqing, S. (Shen), Hartikainen, A.L., Havulinna, A.S. (Aki), Hicks, A.A. (Andrew), Hui, J. (Jennie), Igl, W. (Wilmar), Illig, T. (Thomas), Jula, A. (Antti), Kajantie, E. (Eero), Kilpeläinen, T.O. (Tuomas), Koiranen, M. (Markku), Kolcic, I. (Ivana), Koskinen, S. (Seppo), Kovacs, P. (Peter), Laitinen, J. (Jaana), Liu, J. (Jianjun), Lokki, M.L., Marusic, A. (Ana), Maschio, A., Meitinger, T. (Thomas), Mulas, A. (Antonella), Paré, G. (Guillaume), Parker, A.N. (Alex), Peden, J. (John), Petersmann, A. (Astrid), Pichler, I. (Irene), Pietilainen, K.H. (Kirsi Hannele), Pouta, A. (Anneli), Ridderstråle, M. (Martin), Rotter, J.I. (Jerome), Sambrook, J.G. (Jennifer), Sanders, A.R. (Alan), Schmidt, C.O. (Carsten Oliver), Sinisalo, J. (Juha), Smit, J.H. (Jan), Stringham, H.M. (Heather), Walters, G.B. (Bragi), Widen, E. (Elisabeth), Wild, S.H. (Sarah), Willemsen, G.A.H.M. (Gonneke), Zagato, L. (Laura), Zgaga, L. (Lina), Zitting, P. (Paavo), Alavere, H. (Helene), Farrall, M. (Martin), McArdle, W.L. (Wendy), Nelis, M. (Mari), Peters, M.J. (Marjolein), Ripatti, S. (Samuli), Meurs, J.B.J. (Joyce) van, Aben, K.K.H. (Katja), Beckmann, J.S. (Jacques), Beilby, J.P. (John), Bergman, R.N. (Richard), Bergmann, S.M. (Sven), Collins, F.S. (Francis), Cusi, D. (Daniele), Heijer, M. (Martin) den, Eiriksdottir, G. (Gudny), Gejman, P.V. (Pablo), Hall, A.S. (Alistair), Hamsten, A. (Anders), Huikuri, H.V. (Heikki), Iribarren, C. (Carlos), Kähönen, M. (Mika), Kaprio, J. (Jaakko), Kathiresan, S. (Sekar), Kiemeney, L.A.L.M. (Bart), Kocher, T. (Thomas), Launer, L.J. (Lenore), Lehtimäki, T. (Terho), Melander, O. (Olle), Mosley, T.H. (Thomas), Musk, A.W. (Arthur), Nieminen, M.S. (Markku), O'Donnell, C.J. (Christopher), Ohlsson, C. (Claes), Oostra, B.A. (Ben), Raitakari, O. (Olli), Ridker, P.M. (Paul), Rioux, J.D. (John), Rissanen, A. (Aila), Rivolta, C. (Carlo), Schunkert, H. (Heribert), Shuldiner, A.R. (Alan), Siscovick, D.S. (David), Stumvoll, M. (Michael), Tönjes, A. (Anke), Tuomilehto, J. (Jaakko), Ommen, G.J. (Gert) van, Viikari, J. (Jorma), Heath, A.C. (Andrew), Martin, N.G. (Nicholas), Montgomery, G.W. (Grant), Province, M.A. (Mike), Kayser, M.H. (Manfred), Arnold, A.M. (Alice), Atwood, L.D. (Larry), Boerwinkle, E.A. (Eric), Chanock, S.J. (Stephen), Deloukas, P. (Panagiotis), Gieger, C. (Christian), Grönberg, H. (Henrik), Hattersley, A.T. (Andrew), Hengstenberg, C. (Christian), Hoffman, W. (Wolfgang), Lathrop, G.M. (Mark), Salomaa, V. (Veikko), Schreiber, S. (Stefan), Uda, M. (Manuela), Waterworth, D. (Dawn), Wright, A.F. (Alan), Assimes, T.L. (Themistocles), Barroso, I.E. (Inês), Hofman, A. (Albert), Mohlke, K.L. (Karen), Boomsma, D.I. (Dorret), Caulfield, M. (Mark), Cupples, L.A. (Adrienne), Fox, C.S. (Caroline), Gudnason, V. (Vilmundur), Gyllensten, U. (Ulf), Harris, T.B. (Tamara), Hayes, R.B. (Richard), Järvelin, M.R., Mooser, V. (Vincent), Munroe, P. (Patricia), Ouwehand, W.H. (Willem), Penninx, B.W.J.H. (Brenda), Pramstaller, P.P. (Peter Paul), Quertermous, T. (Thomas), Rudan, I. (Igor), Samani, N.J. (Nilesh), Spector, T.D. (Timothy), Völzke, H. (Henry), Watkins, H. (Hugh), Wilson, J.F. (James), Groop, L. (Leif), Haritunians, T. (Talin), Hu, F.B. (Frank), Metspalu, A. (Andres), North, K.E. (Kari), Schlessinger, D., Wareham, N.J. (Nick), Hunter, D.J. (David), O´Connell, J.R., Strachan, D.P. (David), Wichmann, H.E. (Heinz Erich), Borecki, I.B. (Ingrid), Duijn, C.M. (Cornelia) van, Schadt, E.E. (Eric), Thorsteinsdottir, U. (Unnur), Peltonen, L. (Leena Johanna), Uitterlinden, A.G. (André), Visscher, P.M. (Peter), Chatterjee, N. (Nilanjan), Erdmann, J. (Jeanette), Loos, R.J.F. (Ruth), Boehnke, M. (Michael), McCarthy, M.I. (Mark), Ingelsson, E. (Erik), Lindgren, C.M. (Cecilia), Abecasis, G.R. (Gonçalo), Stefansson, K. (Kari), Frayling, T.M. (Timothy), Hirschhorn, J.N. (Joel), Ardlie, K.G. (Kristin), and Weedon, M.N. (Michael)
Abstract: Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits1, but these typically explain small fractions of phenotypic variation, raising questions about the use of further studies. Here, using 183,727 individuals, we show that hundreds of genetic variants, in at least 180 loci, influence adult height, a highly heritable and classic polygenic trait2,3. The large number of loci reveals patterns with important implications for genetic studies of common human diseases and traits. First, the 180 loci are not random, but instead are enriched for genes that are connected in biological pathways ( P=0.016) and that underlie skeletal growth defects ( P<0.001). Second, the likely causal gene is often located near the most str
Published: 2010
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61. Biological, clinical and population relevance of 95 loci for blood lipids

Author: Teslovich, T.M. (Tanya), Musunuru, K. (Kiran), Smith, A.V. (Albert Vernon), Edmondson, A.C. (Andrew), Stylianou, I.M. (Ioannis), Koseki, M. (Masahiro), Pirruccello, J.P. (James), Ripatti, S. (Samuli), Chasman, D.I. (Daniel), Willer, C.J. (Cristen), Johansen, C.T. (Christopher), Fouchier, S.W. (Sigrid), Isaacs, A.J. (Aaron), Peloso, G.M. (Gina), Barbalic, M. (maja), Ricketts, S.L. (Sally), Bis, J.C. (Joshua), Aulchenko, Y.S. (Yurii), Thorleifsson, G. (Gudmar), Feitosa, M.F. (Mary Furlan), Chambers, J. (John), Orho-Melander, M. (Marju), Melander, O. (Olle), Johnson, T. (Toby), Li, X. (Xiaohui), Guo, X. (Xiuqing), Shin Cho, Y. (Yoon), Jin Go, M. (Min), Jin Kim, Y. (Young), Lee, J.Y. (Jong Young), Park, T. (Taesung), Kim, Y-J. (Yong-Jin), Sim, X. (Xueling), Twee-Hee Ong, R. (Rick), Croteau-Chonka, D.C. (Damien), Lange, L.A. (Leslie), Song, K. (Kijoung), Zhao, J.H. (Jing Hua), Yuan, X. (Xin), Luan, J., Lamina, C. (Claudia), Ziegler, A. (Andreas), Zhang, W. (Weibo), Zee, R.Y.L. (Robert), Wright, A.F. (Alan), Witteman, J.C.M. (Jacqueline), Wilson, J.F. (James), Willemsen, G.A.H.M. (Gonneke), Wichmann, H.E. (Heinz Erich), Whitfield, J. (John), Waterworth, D. (Dawn), Wareham, N.J. (Nick), Waeber, G. (Gérard), Vollenweider, P. (Peter), Voight, B.F. (Benjamin), Vitart, V. (Veronique), Uitterlinden, A.G. (André), Uda, M. (Manuela), Tuomilehto, J. (Jaakko), Thompson, J.R. (John), Tanaka, T. (Toshiko), Surakka, I. (Ida), Stringham, H.M. (Heather), Spector, T.D. (Timothy), Soranzo, N. (Nicole), Smit, J.H. (Johannes), Sinisalo, J. (Juha), Silander, K. (Kaisa), Sijbrands, E.J.G. (Eric), Scuteri, A. (Angelo), Scott, J. (James), Schlessinger, D. (David), Sanna, S. (Serena), Salomaa, V. (Veikko), Saharinen, J. (Juha), Sabatti, C. (Chiara), Ruokonen, A. (Aimo), Rudan, I. (Igor), Rose, L.M. (Lynda), Roberts, R. (Robert), Rieder, M. (Mark), Psaty, B.M. (Bruce), Pramstaller, P.P. (Peter Paul), Pichler, I. (Irene), Perola, M. (Markus), Penninx, B.W.J.H. (Brenda), Pedersen, N.L. (Nancy), Pattaro, C. (Cristian), Parker, A.N. (Alex), Pare, G. (Guillaume), Oostra, B.A. (Ben), Nieminen, M.S. (Markku), Nickerson, D.A. (Deborah), Montgomery, G.W. (Grant), Meitinger, T. (Thomas), McPherson, R. (Ruth), McCarthy, M.I. (Mark), McArdle, W.L. (Wendy), Masson, D. (David), Martin, N.G. (Nicholas), Marroni, F. (Fabio), Mangino, M. (Massimo), Magnusson, P.K. (Patrik), Lucas, G. (Gavin), Luben, R.N. (Robert), Loos, R.J.F. (Ruth), Lokki, M.L., Lettre, G. (Guillaume), Langenberg, C. (Claudia), Launer, L.J. (Lenore), Lakatta, E. (Edward), Laaksonen, R. (Reijo), Kyvik, K.O. (Kirsten Ohm), Kronenberg, F. (Florian), König, I.R. (Inke), Khaw, K-T. (Kay-Tee), Kaprio, J. (Jaakko), Kaplan, R.C. (Robert), Johansson, A. (Åsa), Jarvelin, M.-R. (Marjo-Riitta), Cecile, A. (A.), Ingelsson, E. (Erik), Igl, W. (Wilmar), Hovingh, G.K. (Kees), Hottenga, J.J. (Jouke Jan), Hofman, A. (Albert), Hicks, A.A. (Andrew), Hengstenberg, C. (Christian), Heid, I.M. (Iris), Hayward, C. (Caroline), Havulinna, A.S. (Aki), Hastie, N. (Nick), Harris, T.B. (Tamara), Haritunians, T. (Talin), Hall, A.S. (Alistair), Gyllensten, U. (Ulf), Guiducci, C. (Candace), Groop, L. (Leif), Gonzalez, E. (Elena), Gieger, C. (Christian), Freimer, N.B. (Nelson), Ferrucci, L. (Luigi), Erdmann, J. (Jeanette), Elliott, P. (Paul), Ejebe, K.G. (Kenechi), Döring, A. (Angela), Dominiczak, A. (Anna), Demissie, S. (Serkalem), Deloukas, P. (Panagiotis), Geus, E.J.C. (Eco) de, Faire, U. (Ulf) de, Crawford, G. (Gabe), Collins, F.S. (Francis), Chen, C. (Chao), Caulfield, M. (Mark), Campbell, H. (Harry), Burtt, N.P. (Noël), Bonnycastle, L.L. (Lori), Boomsma, D.I. (Dorret), Boekholdt, S.M. (Matthijs), Bergman, R.N. (Richard), Barroso, I.E. (Inês), Bandinelli, S. (Stefania), Ballantyne, C. (Christie), Assimes, T.L. (Themistocles), Quertermous, T. (Thomas), Altshuler, D. (David), Seielstad, M. (Mark), Wong, T.Y. (Tien Yin), Tai, E.S. (Shyong), Feranil, A.B. (Alan), Kuzawa, C.W. (Christopher), Adair, L.S. (Linda), Taylor, H.A. (Herman), Borecki, I.B. (Ingrid), Gabriel, S.B. (Stacey), Holm, H. (Hilma), Thorsteinsdottir, U. (Unnur), Gudnason, V. (Vilmundur), Krauss, R.M. (Ronald), Mohlke, K.L. (Karen), Ordovas, J.M. (Jose), Munroe, P. (Patricia), Kooner, J.S. (Jaspal), Tall, A.R. (Alan), Hegele, R.A. (Robert), Kastelein, J.J.P. (John), Schadt, E.E. (Eric), Rotter, J.I. (Jerome), Boerwinkle, E.A. (Eric), Strachan, D.P. (David), Mooser, V. (Vincent), Zwart, J-A. (John-Anker), Reilly, M.P. (Muredach), Samani, N.J. (Nilesh), Schunkert, H. (Heribert), Cupples, L.A. (Adrienne), Sandhu, M.S. (Manjinder), Ridker, P.M. (Paul), Rader, D.J. (Daniel), Tikka-Kleemola, P. (Päivi), Peltonen, L. (Leena Johanna), Abecasis, G.R. (Gonçalo), Boehnke, M. (Michael), Kathiresan, S. (Sekar), O'Donnell, C.J. (Christopher), Teslovich, T.M. (Tanya), Musunuru, K. (Kiran), Smith, A.V. (Albert Vernon), Edmondson, A.C. (Andrew), Stylianou, I.M. (Ioannis), Koseki, M. (Masahiro), Pirruccello, J.P. (James), Ripatti, S. (Samuli), Chasman, D.I. (Daniel), Willer, C.J. (Cristen), Johansen, C.T. (Christopher), Fouchier, S.W. (Sigrid), Isaacs, A.J. (Aaron), Peloso, G.M. (Gina), Barbalic, M. (maja), Ricketts, S.L. (Sally), Bis, J.C. (Joshua), Aulchenko, Y.S. (Yurii), Thorleifsson, G. (Gudmar), Feitosa, M.F. (Mary Furlan), Chambers, J. (John), Orho-Melander, M. (Marju), Melander, O. (Olle), Johnson, T. (Toby), Li, X. (Xiaohui), Guo, X. (Xiuqing), Shin Cho, Y. (Yoon), Jin Go, M. (Min), Jin Kim, Y. (Young), Lee, J.Y. (Jong Young), Park, T. (Taesung), Kim, Y-J. (Yong-Jin), Sim, X. (Xueling), Twee-Hee Ong, R. (Rick), Croteau-Chonka, D.C. (Damien), Lange, L.A. (Leslie), Song, K. (Kijoung), Zhao, J.H. (Jing Hua), Yuan, X. (Xin), Luan, J., Lamina, C. (Claudia), Ziegler, A. (Andreas), Zhang, W. (Weibo), Zee, R.Y.L. (Robert), Wright, A.F. (Alan), Witteman, J.C.M. (Jacqueline), Wilson, J.F. (James), Willemsen, G.A.H.M. (Gonneke), Wichmann, H.E. (Heinz Erich), Whitfield, J. (John), Waterworth, D. (Dawn), Wareham, N.J. (Nick), Waeber, G. (Gérard), Vollenweider, P. (Peter), Voight, B.F. (Benjamin), Vitart, V. (Veronique), Uitterlinden, A.G. (André), Uda, M. (Manuela), Tuomilehto, J. (Jaakko), Thompson, J.R. (John), Tanaka, T. (Toshiko), Surakka, I. (Ida), Stringham, H.M. (Heather), Spector, T.D. (Timothy), Soranzo, N. (Nicole), Smit, J.H. (Johannes), Sinisalo, J. (Juha), Silander, K. (Kaisa), Sijbrands, E.J.G. (Eric), Scuteri, A. (Angelo), Scott, J. (James), Schlessinger, D. (David), Sanna, S. (Serena), Salomaa, V. (Veikko), Saharinen, J. (Juha), Sabatti, C. (Chiara), Ruokonen, A. (Aimo), Rudan, I. (Igor), Rose, L.M. (Lynda), Roberts, R. (Robert), Rieder, M. (Mark), Psaty, B.M. (Bruce), Pramstaller, P.P. (Peter Paul), Pichler, I. (Irene), Perola, M. (Markus), Penninx, B.W.J.H. (Brenda), Pedersen, N.L. (Nancy), Pattaro, C. (Cristian), Parker, A.N. (Alex), Pare, G. (Guillaume), Oostra, B.A. (Ben), Nieminen, M.S. (Markku), Nickerson, D.A. (Deborah), Montgomery, G.W. (Grant), Meitinger, T. (Thomas), McPherson, R. (Ruth), McCarthy, M.I. (Mark), McArdle, W.L. (Wendy), Masson, D. (David), Martin, N.G. (Nicholas), Marroni, F. (Fabio), Mangino, M. (Massimo), Magnusson, P.K. (Patrik), Lucas, G. (Gavin), Luben, R.N. (Robert), Loos, R.J.F. (Ruth), Lokki, M.L., Lettre, G. (Guillaume), Langenberg, C. (Claudia), Launer, L.J. (Lenore), Lakatta, E. (Edward), Laaksonen, R. (Reijo), Kyvik, K.O. (Kirsten Ohm), Kronenberg, F. (Florian), König, I.R. (Inke), Khaw, K-T. (Kay-Tee), Kaprio, J. (Jaakko), Kaplan, R.C. (Robert), Johansson, A. (Åsa), Jarvelin, M.-R. (Marjo-Riitta), Cecile, A. (A.), Ingelsson, E. (Erik), Igl, W. (Wilmar), Hovingh, G.K. (Kees), Hottenga, J.J. (Jouke Jan), Hofman, A. (Albert), Hicks, A.A. (Andrew), Hengstenberg, C. (Christian), Heid, I.M. (Iris), Hayward, C. (Caroline), Havulinna, A.S. (Aki), Hastie, N. (Nick), Harris, T.B. (Tamara), Haritunians, T. (Talin), Hall, A.S. (Alistair), Gyllensten, U. (Ulf), Guiducci, C. (Candace), Groop, L. (Leif), Gonzalez, E. (Elena), Gieger, C. (Christian), Freimer, N.B. (Nelson), Ferrucci, L. (Luigi), Erdmann, J. (Jeanette), Elliott, P. (Paul), Ejebe, K.G. (Kenechi), Döring, A. (Angela), Dominiczak, A. (Anna), Demissie, S. (Serkalem), Deloukas, P. (Panagiotis), Geus, E.J.C. (Eco) de, Faire, U. (Ulf) de, Crawford, G. (Gabe), Collins, F.S. (Francis), Chen, C. (Chao), Caulfield, M. (Mark), Campbell, H. (Harry), Burtt, N.P. (Noël), Bonnycastle, L.L. (Lori), Boomsma, D.I. (Dorret), Boekholdt, S.M. (Matthijs), Bergman, R.N. (Richard), Barroso, I.E. (Inês), Bandinelli, S. (Stefania), Ballantyne, C. (Christie), Assimes, T.L. (Themistocles), Quertermous, T. (Thomas), Altshuler, D. (David), Seielstad, M. (Mark), Wong, T.Y. (Tien Yin), Tai, E.S. (Shyong), Feranil, A.B. (Alan), Kuzawa, C.W. (Christopher), Adair, L.S. (Linda), Taylor, H.A. (Herman), Borecki, I.B. (Ingrid), Gabriel, S.B. (Stacey), Holm, H. (Hilma), Thorsteinsdottir, U. (Unnur), Gudnason, V. (Vilmundur), Krauss, R.M. (Ronald), Mohlke, K.L. (Karen), Ordovas, J.M. (Jose), Munroe, P. (Patricia), Kooner, J.S. (Jaspal), Tall, A.R. (Alan), Hegele, R.A. (Robert), Kastelein, J.J.P. (John), Schadt, E.E. (Eric), Rotter, J.I. (Jerome), Boerwinkle, E.A. (Eric), Strachan, D.P. (David), Mooser, V. (Vincent), Zwart, J-A. (John-Anker), Reilly, M.P. (Muredach), Samani, N.J. (Nilesh), Schunkert, H. (Heribert), Cupples, L.A. (Adrienne), Sandhu, M.S. (Manjinder), Ridker, P.M. (Paul), Rader, D.J. (Daniel), Tikka-Kleemola, P. (Päivi), Peltonen, L. (Leena Johanna), Abecasis, G.R. (Gonçalo), Boehnke, M. (Michael), Kathiresan, S. (Sekar), and O'Donnell, C.J. (Christopher)
Abstract: Plasma concentrations of total cholesterol, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol and triglycerides are among the most important risk factors for coronary artery disease (CAD) and are targets for therapeutic intervention. We screened the genome for common variants associated with plasma lipids in >100,000 individuals of European ancestry. Here we report 95 significantly associated loci (P<-10-8), with 59 showing genome-wide significant association with lipid traits for the first time. The newly reported associations include single nucleotide polymorphisms (SNPs) near known lipid regulators (for example, CYP7A1, NPC1L1 and SCARB1) as well as in scores of loci not previously implicated in lipoprotein metabolism. The 95 loci contribute not only to normal variation in lipid traits but also to extreme lipid phenotypes and have an impact on lipid traits in three non-European populations (East Asians, South Asians and African Americans). Our results identify several novel loci associated with plasma lipids that are also associated with CAD. Finally, we validated three of the novel genes-GALNT2, PPP1R3B and TTC39B-with experiments in mouse models. Taken together, our findings provide the foundation to develop a broader biological understanding of lipoprotein metabolism and to identify new therapeutic opportunities for the prevention of CAD.
Published: 2010
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62. Digital quantification of human eye color highlights genetic association of three new loci.

Author: Liu, F. (Fan), Wollstein, A. (Andreas), Hysi, P.G. (Pirro), Ankra-Badu, G.A. (Georgina), Spector, T.D. (Timothy), Park, D.J. (Daniel), Zhu, G. (Gu), Larsson, M. (Mats), Duffy, D.L. (David), Montgomery, G.W. (Grant), Mackey, D.A. (David), Walsh, S. (Susan), Lao Grueso, O. (Oscar), Hofman, A. (Albert), Rivadeneira Ramirez, F. (Fernando), Vingerling, J.R. (Hans), Uitterlinden, A.G. (André), Martin, N.G. (Nicholas), Hammond, C.J. (Christopher), Kayser, M.H. (Manfred), Liu, F. (Fan), Wollstein, A. (Andreas), Hysi, P.G. (Pirro), Ankra-Badu, G.A. (Georgina), Spector, T.D. (Timothy), Park, D.J. (Daniel), Zhu, G. (Gu), Larsson, M. (Mats), Duffy, D.L. (David), Montgomery, G.W. (Grant), Mackey, D.A. (David), Walsh, S. (Susan), Lao Grueso, O. (Oscar), Hofman, A. (Albert), Rivadeneira Ramirez, F. (Fernando), Vingerling, J.R. (Hans), Uitterlinden, A.G. (André), Martin, N.G. (Nicholas), Hammond, C.J. (Christopher), and Kayser, M.H. (Manfred)
Abstract: Previous studies have successfully identified genetic variants in several genes associated with human iris (eye) color; however, they all used simplified categorical trait information. Here, we quantified continuous eye color variation into hue and saturation values using high-resolution digital full-eye photographs and conducted a genome-wide association study on 5,951 Dutch Europeans from the Rotterdam Study. Three new regions, 1q42.3, 17q25.3, and 21q2
Published: 2010
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63. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

Author: Speliotes, E.K. (Elizabeth), Willer, C.J. (Cristen), Berndt, S.I. (Sonja), Monda, K.L. (Keri), Thorleifsson, G. (Gudmar), Jackson, A.U. (Anne), Allen, H.L., Lindgren, C.M. (Cecilia), Luan, J., Mägi, R. (Reedik), Randall, J.C. (Joshua), Vedantam, S. (Sailaja), Winkler, T.W. (Thomas), Qi, L. (Lu), Workalemahu, T. (Tsegaselassie), Heid, I.M. (Iris), Steinthorsdottir, V. (Valgerdur), Stringham, H.M. (Heather), Wheeler, E. (Eleanor), Wood, A.R. (Andrew), Ferreira, T. (Teresa), Weyant, R.J. (Robert), Segrè, A.V. (Ayellet), Eestrada, K. (Karol), Liang, L. (Liming), Nemesh, J. (James), Park, J.H., Gustafsson, S. (Stefan), Kilpeläinen, T.O. (Tuomas), Yang, J. (Joanna), Bouatia-Naji, N. (Nabila), Eesko, T. (Tõnu), Feitosa, M.F. (Mary Furlan), Kutalik, Z. (Zoltán), Mangino, M. (Massimo), Raychaudhuri, S. (Soumya), Scherag, A. (Andre), Smith, A.V. (Albert Vernon), Welch, R.P. (Ryan), Zhao, J.H. (Jing Hua), Aben, K.K.H. (Katja), Absher, D. (Devin), Amin, N. (Najaf), Dixon, A.L. (Anna), Fisher, E. (Eeva), Glazer, N.L. (Nicole), Goddard, M.E. (Michael), Heard-Costa, N.L. (Nancy), Hoesel, V. (Volker), Hottenga, J.J. (Jouke Jan), Johansson, A. (Åsa), Johnson, T. (Toby), Ketkar, S. (Shamika), Lamina, C. (Claudia), Li, S. (Shengxu), Moffatt, M.F. (Miriam), Myers, R.H. (Richard), Narisu, N. (Narisu), Perry, J.R.B. (John), Peters, M.J. (Marjolein), Preuss, M. (Michael), Ripatti, S. (Samuli), Rivadeneira Ramirez, F. (Fernando), Sandholt, C. (Camilla), Scott, L.J. (Laura), Timpson, N.J. (Nicholas), Tyrer, J.P. (Jonathan), Wingerden, S. (Sophie) van, White, C.C. (Charles), Wiklund, F. (Fredrik), Barlassina, C. (Christina), Chasman, D.I. (Daniel), Cooper, M.N. (Matthew), Jansson, J.O., Lawrence, R.W. (Robert), Pellikka, N. (Niina), Prokopenko, I. (Inga), Shi, J. (Jianxin), Thiering, E. (Eelisabeth), Alavere, H. (Helene), Alibrandi, M.T.S. (Maria), Almgren, P. (Peter), Arnold, A.M. (Alice), Aspelund, T. (Thor), Atwood, L.D. (Larry), Balkau, B. (Beverley), Balmforth, A.J. (Anthony), Bennett, A.J. (Amanda), Ben-Shlomo, Y., Bergman, R.N. (Richard), Bergmann, S.M. (Sven), Biebermann, H. (Heike), Blakemore, A.I.F. (Alexandra), Boes, T. (Tanja), Bonnycastle, L.L. (Lori), Bornstein, S.R. (Stefan), Brown, M.J. (Morris), Buchanan, T.A. (Thomas), Busonero, F., Campbell, H. (Harry), Cappuccio, F.P. (Francesco), Cavalcanti-Proença, C. (Christine), Chen, Y.D.I. (Yii-Der Ida), Chen, C.-M. (Chih-Mei), Chines, P.S. (Peter), Clarke, R., Coin, L. (Lachlan), Connell, J. (John), Day, I.N.M. (Ian), Heijer, M. (Martin) den, Duan, J. (Jubao), Eebrahim, S. (Shah), Eelliott, P. (Paul), Eelosua, R. (Roberto), Eeiriksdottir, G. (Gudny), Eerdos, M.R. (Micheal), Eeriksson, J.G. (Johan), Facheris, M.F. (Maurizio), Felix, S.B. (Stephan), Fischer-Posovszky, P. (Pamela), Folsom, A.R. (Aaron), Friedrich, N. (Nele), Freimer, N.B. (Nelson), Fu, M. (Mao), Gaget, S. (Stefan), Gejman, P.V. (Pablo), Geus, E.J.C. (Eco) de, Gieger, C. (Christian), Gjesing, A.P. (Anette), Goel, A. (Anuj), Goyette, P. (Philippe), Grallert, H. (Harald), Gräßler, J. (Jürgen), Greenawalt, D. (Danielle), Groves, C.J. (Christopher), Gudnason, V. (Vilmundur), Guiducci, C. (Candace), Hartikainen, A.L., Hassanali, N. (Neelam), Hall, A.S. (Alistair), Havulinna, A.S. (Aki), Hayward, C. (Caroline), Heath, A.C. (Andrew), Hengstenberg, C. (Christian), Hicks, A.A. (Andrew), Hinney, A. (Anke), Hofman, A. (Albert), Homuth, G. (Georg), Hui, J. (Jennie), Igl, W. (Wilmar), Iribarren, C. (Carlos), Isomaa, B. (Bo), Jacobs, K.B. (Kevin), Jarick, I. (Ivonne), Jewell, E. (Eelizabeth), John, U. (Ulrich), Jørgensen, T. (Torben), Jousilahti, P. (Pekka), Jula, A. (Antti), Kaakinen, M. (Marika), Kajantie, E. (Eero), Kaplan, R.C. (Robert), Kathiresan, S. (Sekar), Kettunen, J. (Johannes), Kinnunen, L. (Leena), Knowles, J.W. (Joshua), Kolcic, I. (Ivana), König, I.R. (Inke), Koskinen, S. (Seppo), Kovacs, P. (Peter), Kusisto, J. (Johanna), Kraft, P. (Peter), Kvaløy, K. (Kirsti), Laitinen, J. (Jaana), Lantieri, O. (Olivier), Lanzani, C. (Chiara), Launer, L.J. (Lenore), Lecoeur, C. (Cécile), Lehtimäki, T. (Terho), Lettre, G. (Guillaume), Liu, J. (Jianjun), Lokki, M.L., Lorentzon, M. (Mattias), Luben, R.N. (Robert), Ludwig, B. (Barbara), Manunta, P. (Paolo), Marek, D. (Diana), Marre, M. (Michel), Martin, N.G. (Nicholas), McArdle, W.L. (Wendy), McCarthy, M.I. (Mark), McKnight, B. (Barbara), Meitinger, T. (Thomas), Melander, O. (Olle), Meyre, D. (David), Midthjell, K. (Kristian), Montgomery, G.W. (Grant), Morken, M.A. (Mario), Morris, A.D. (Andrew), Mulic, R. (Rosanda), Ngwa, J.S., Nelis, M. (Mari), Neville, M.J. (Matthew), Nyholt, D.R. (Dale), O'Ddonnell, C.J. (Christopher), O'Rahilly, S. (Stephen), Ong, K. (Ken), Oostra, B.A. (Ben), Paré, G. (Guillaume), Parker, A.N. (Alex), Perola, M. (Markus), Pichler, I. (Irene), Pietilainen, K.H. (Kirsi Hannele), Platou, C.P. (Carl), Polasek, O. (Ozren), Pouta, A. (Anneli), Rafelt, S. (Suzanne), Raitakari, O. (Olli), Rayner, N.W. (Nigel William), Ridderstråle, M. (Martin), Rief, W. (Winfried), Ruokonen, A. (Aimo), Robertson, N.R. (Neil), Rzehak, P. (Peter), Salomaa, V. (Veikko), Sanders, A.R. (Alan), Sandhu, M.S. (Manjinder), Sanna, S. (Serena), Saramies, J. (Jouko), Savolainen, M.J. (Markku), Schipf, S. (Sabine), Schreiber, S. (Stefan), Schunkert, H. (Heribert), Silander, K. (Kaisa), Sinisalo, J. (Juha), Siscovick, D.S. (David), Smit, J.H. (Jan), Soranzo, N. (Nicole), Sovio, U. (Ulla), Stephens, J. (Jonathan), Surakka, I. (Ida), Swift, A.J. (Amy), Tammesoo, M.L., Tardif, J.-C. (Jean-Claude), Teder-Laving, M. (Maris), Teslovich, T.M. (Tanya), Thompson, J.R. (John), Thomson, B. (Brian), Tönjes, A. (Anke), Tuomi, T. (Tiinamaija), Meurs, J.B.J. (Joyce) van, OMen, G.J. van, Vatin, V. (Vincent), Viikari, J. (Jorma), Visvikis-Siest, S. (Sophie), Vitart, V. (Veronique), Vogel, C.I. (Carla), Voight, B.F. (Benjamin), Waite, L. (Lindsay), Wallaschofski, H. (Henri), Walters, G.B. (Bragi), Widen, E. (Elisabeth), Wiegand, S. (Susanna), Wild, S.H. (Sarah), Willemsen, G.A.H.M. (Gonneke), Witte, D.R. (Deniel), Witteman, J.C.M. (Jacqueline), Xu, J. (Jianfeng), Zhang, Q. (Qunyuan), Zgaga, L. (Lina), Ziegler, A. (Andreas), Zitting, P. (Paavo), Beilby, J.P. (John), FarOqi, I.S. (Ssadaf), Hebebrand, J. (Johannes), Huikuri, H.V. (Heikki), James, A. (Alan), Kähönen, M. (Mika), Levinson, D.F. (Douglas), MacCiardi, F. (Fabio), Nieminen, M.S. (Markku), Ohlsson, C. (Claes), Palmer, C. (Cameron), Ridker, P.M. (Paul), Stumvoll, M. (Michael), Beckmann, J.S. (Jacques), Boeing, H. (Heiner), Boerwinkle, E.A. (Eric), Boomsma, D.I. (Dorret), Caulfield, M. (Mark), Chanock, S.J. (Stephen), Collins, F.S. (Francis), Cupples, L.A. (Adrienne), Eerdmann, J. (Jeanette), Frogue, P. (Philippe), Grönberg, H. (Henrik), Gyllensten, U. (Ulf), Hansen, T. (Torben), Harris, T.B. (Tamara), Hattersley, A.T. (Andrew), Hayes, R.B. (Richard), Heinrich, J. (Joachim), Hu, F.B. (Frank), Hveem, K. (Kristian), Illig, T. (Thomas), Järvelin, M.R., Kaprio, J. (Jaakko), Karpe, F. (Fredrik), Khaw, K-T. (Kay-Tee), Kiemeney, L.A.L.M. (Bart), Krude, H., Laakso, M. (Markku), Lawlor, D.A. (Debbie), Metspalu, A. (Andres), Munroe, P. (Patricia), Ouwehand, W.H. (Willem), Pedersen, O. (Oluf), Penninx, B.W.J.H. (Brenda), Pramstaller, P.P. (Peter Paul), Quertermous, T. (Thomas), Reinehr, T. (Thomas), Rissanen, A. (Aila), Rudan, I. (Igor), Samani, N.J. (Nilesh), Schwarz, P.E.H. (Peter), Shuldiner, A.R. (Alan), Spector, T.D. (Timothy), Tuomilehto, J. (Jaakko), Uda, M. (Manuela), Uitterlinden, A.G. (André), Valle, T.T. (Timo), Wabitsch, M. (Martin), Waeber, G. (Gérard), Wareham, N.J. (Nick), Watkins, H. (Hugh), Wilson, J.F. (James), Wright, A.F. (Alan), Zillikens, M.C. (Carola), ChatterjE, N. (Nilanjan), McCarroll, S.A. (Steve), Purcell, S. (Shaun), Schadt, E.E. (Eric), Visscher, P.M. (Peter), Assimes, T.L. (Themistocles), Borecki, I.B. (Ingrid), Deloukas, P. (Panagiotis), Fox, C.S. (Caroline), Groop, L. (Leif), Haritunians, T. (Talin), Hunter, D.J. (David), Mohlke, K.L. (Karen), O'ConneL, J.R. (Jeffrey), Peltonen, L. (Leena Johanna), SchleSinger, D. (David), Strachan, D.P. (David), Watanabe, R.M. (Richard), Duijn, C.M. (Cornelia) van, Wichmann, H.E. (Heinz Erich), Frayling, T.M. (Timothy), Thorsteinsdottir, U. (Unnur), Abecasis, G.R. (Gonçalo), Boehnke, M. (Michael), StefanSon, K. (Kari), North, K.E. (Kari), McArthy, M.I. (Mark), Hirschhorn, J.N. (Joel), IngelSon, E. (Erik), Loos, R.J.F. (Ruth), Weedon, M.N. (Michael), Speliotes, E.K. (Elizabeth), Willer, C.J. (Cristen), Berndt, S.I. (Sonja), Monda, K.L. (Keri), Thorleifsson, G. (Gudmar), Jackson, A.U. (Anne), Allen, H.L., Lindgren, C.M. (Cecilia), Luan, J., Mägi, R. (Reedik), Randall, J.C. (Joshua), Vedantam, S. (Sailaja), Winkler, T.W. (Thomas), Qi, L. (Lu), Workalemahu, T. (Tsegaselassie), Heid, I.M. (Iris), Steinthorsdottir, V. (Valgerdur), Stringham, H.M. (Heather), Wheeler, E. (Eleanor), Wood, A.R. (Andrew), Ferreira, T. (Teresa), Weyant, R.J. (Robert), Segrè, A.V. (Ayellet), Eestrada, K. (Karol), Liang, L. (Liming), Nemesh, J. (James), Park, J.H., Gustafsson, S. (Stefan), Kilpeläinen, T.O. (Tuomas), Yang, J. (Joanna), Bouatia-Naji, N. (Nabila), Eesko, T. (Tõnu), Feitosa, M.F. (Mary Furlan), Kutalik, Z. (Zoltán), Mangino, M. (Massimo), Raychaudhuri, S. (Soumya), Scherag, A. (Andre), Smith, A.V. (Albert Vernon), Welch, R.P. (Ryan), Zhao, J.H. (Jing Hua), Aben, K.K.H. (Katja), Absher, D. (Devin), Amin, N. (Najaf), Dixon, A.L. (Anna), Fisher, E. (Eeva), Glazer, N.L. (Nicole), Goddard, M.E. (Michael), Heard-Costa, N.L. (Nancy), Hoesel, V. (Volker), Hottenga, J.J. (Jouke Jan), Johansson, A. (Åsa), Johnson, T. (Toby), Ketkar, S. (Shamika), Lamina, C. (Claudia), Li, S. (Shengxu), Moffatt, M.F. (Miriam), Myers, R.H. (Richard), Narisu, N. (Narisu), Perry, J.R.B. (John), Peters, M.J. (Marjolein), Preuss, M. (Michael), Ripatti, S. (Samuli), Rivadeneira Ramirez, F. (Fernando), Sandholt, C. (Camilla), Scott, L.J. (Laura), Timpson, N.J. (Nicholas), Tyrer, J.P. (Jonathan), Wingerden, S. (Sophie) van, White, C.C. (Charles), Wiklund, F. (Fredrik), Barlassina, C. (Christina), Chasman, D.I. (Daniel), Cooper, M.N. (Matthew), Jansson, J.O., Lawrence, R.W. (Robert), Pellikka, N. (Niina), Prokopenko, I. (Inga), Shi, J. (Jianxin), Thiering, E. (Eelisabeth), Alavere, H. (Helene), Alibrandi, M.T.S. (Maria), Almgren, P. (Peter), Arnold, A.M. (Alice), Aspelund, T. (Thor), Atwood, L.D. (Larry), Balkau, B. (Beverley), Balmforth, A.J. (Anthony), Bennett, A.J. (Amanda), Ben-Shlomo, Y., Bergman, R.N. (Richard), Bergmann, S.M. (Sven), Biebermann, H. (Heike), Blakemore, A.I.F. (Alexandra), Boes, T. (Tanja), Bonnycastle, L.L. (Lori), Bornstein, S.R. (Stefan), Brown, M.J. (Morris), Buchanan, T.A. (Thomas), Busonero, F., Campbell, H. (Harry), Cappuccio, F.P. (Francesco), Cavalcanti-Proença, C. (Christine), Chen, Y.D.I. (Yii-Der Ida), Chen, C.-M. (Chih-Mei), Chines, P.S. (Peter), Clarke, R., Coin, L. (Lachlan), Connell, J. (John), Day, I.N.M. (Ian), Heijer, M. (Martin) den, Duan, J. (Jubao), Eebrahim, S. (Shah), Eelliott, P. (Paul), Eelosua, R. (Roberto), Eeiriksdottir, G. (Gudny), Eerdos, M.R. (Micheal), Eeriksson, J.G. (Johan), Facheris, M.F. (Maurizio), Felix, S.B. (Stephan), Fischer-Posovszky, P. (Pamela), Folsom, A.R. (Aaron), Friedrich, N. (Nele), Freimer, N.B. (Nelson), Fu, M. (Mao), Gaget, S. (Stefan), Gejman, P.V. (Pablo), Geus, E.J.C. (Eco) de, Gieger, C. (Christian), Gjesing, A.P. (Anette), Goel, A. (Anuj), Goyette, P. (Philippe), Grallert, H. (Harald), Gräßler, J. (Jürgen), Greenawalt, D. (Danielle), Groves, C.J. (Christopher), Gudnason, V. (Vilmundur), Guiducci, C. (Candace), Hartikainen, A.L., Hassanali, N. (Neelam), Hall, A.S. (Alistair), Havulinna, A.S. (Aki), Hayward, C. (Caroline), Heath, A.C. (Andrew), Hengstenberg, C. (Christian), Hicks, A.A. (Andrew), Hinney, A. (Anke), Hofman, A. (Albert), Homuth, G. (Georg), Hui, J. (Jennie), Igl, W. (Wilmar), Iribarren, C. (Carlos), Isomaa, B. (Bo), Jacobs, K.B. (Kevin), Jarick, I. (Ivonne), Jewell, E. (Eelizabeth), John, U. (Ulrich), Jørgensen, T. (Torben), Jousilahti, P. (Pekka), Jula, A. (Antti), Kaakinen, M. (Marika), Kajantie, E. (Eero), Kaplan, R.C. (Robert), Kathiresan, S. (Sekar), Kettunen, J. (Johannes), Kinnunen, L. (Leena), Knowles, J.W. (Joshua), Kolcic, I. (Ivana), König, I.R. (Inke), Koskinen, S. (Seppo), Kovacs, P. (Peter), Kusisto, J. (Johanna), Kraft, P. (Peter), Kvaløy, K. (Kirsti), Laitinen, J. (Jaana), Lantieri, O. (Olivier), Lanzani, C. (Chiara), Launer, L.J. (Lenore), Lecoeur, C. (Cécile), Lehtimäki, T. (Terho), Lettre, G. (Guillaume), Liu, J. (Jianjun), Lokki, M.L., Lorentzon, M. (Mattias), Luben, R.N. (Robert), Ludwig, B. (Barbara), Manunta, P. (Paolo), Marek, D. (Diana), Marre, M. (Michel), Martin, N.G. (Nicholas), McArdle, W.L. (Wendy), McCarthy, M.I. (Mark), McKnight, B. (Barbara), Meitinger, T. (Thomas), Melander, O. (Olle), Meyre, D. (David), Midthjell, K. (Kristian), Montgomery, G.W. (Grant), Morken, M.A. (Mario), Morris, A.D. (Andrew), Mulic, R. (Rosanda), Ngwa, J.S., Nelis, M. (Mari), Neville, M.J. (Matthew), Nyholt, D.R. (Dale), O'Ddonnell, C.J. (Christopher), O'Rahilly, S. (Stephen), Ong, K. (Ken), Oostra, B.A. (Ben), Paré, G. (Guillaume), Parker, A.N. (Alex), Perola, M. (Markus), Pichler, I. (Irene), Pietilainen, K.H. (Kirsi Hannele), Platou, C.P. (Carl), Polasek, O. (Ozren), Pouta, A. (Anneli), Rafelt, S. (Suzanne), Raitakari, O. (Olli), Rayner, N.W. (Nigel William), Ridderstråle, M. (Martin), Rief, W. (Winfried), Ruokonen, A. (Aimo), Robertson, N.R. (Neil), Rzehak, P. (Peter), Salomaa, V. (Veikko), Sanders, A.R. (Alan), Sandhu, M.S. (Manjinder), Sanna, S. (Serena), Saramies, J. (Jouko), Savolainen, M.J. (Markku), Schipf, S. (Sabine), Schreiber, S. (Stefan), Schunkert, H. (Heribert), Silander, K. (Kaisa), Sinisalo, J. (Juha), Siscovick, D.S. (David), Smit, J.H. (Jan), Soranzo, N. (Nicole), Sovio, U. (Ulla), Stephens, J. (Jonathan), Surakka, I. (Ida), Swift, A.J. (Amy), Tammesoo, M.L., Tardif, J.-C. (Jean-Claude), Teder-Laving, M. (Maris), Teslovich, T.M. (Tanya), Thompson, J.R. (John), Thomson, B. (Brian), Tönjes, A. (Anke), Tuomi, T. (Tiinamaija), Meurs, J.B.J. (Joyce) van, OMen, G.J. van, Vatin, V. (Vincent), Viikari, J. (Jorma), Visvikis-Siest, S. (Sophie), Vitart, V. (Veronique), Vogel, C.I. (Carla), Voight, B.F. (Benjamin), Waite, L. (Lindsay), Wallaschofski, H. (Henri), Walters, G.B. (Bragi), Widen, E. (Elisabeth), Wiegand, S. (Susanna), Wild, S.H. (Sarah), Willemsen, G.A.H.M. (Gonneke), Witte, D.R. (Deniel), Witteman, J.C.M. (Jacqueline), Xu, J. (Jianfeng), Zhang, Q. (Qunyuan), Zgaga, L. (Lina), Ziegler, A. (Andreas), Zitting, P. (Paavo), Beilby, J.P. (John), FarOqi, I.S. (Ssadaf), Hebebrand, J. (Johannes), Huikuri, H.V. (Heikki), James, A. (Alan), Kähönen, M. (Mika), Levinson, D.F. (Douglas), MacCiardi, F. (Fabio), Nieminen, M.S. (Markku), Ohlsson, C. (Claes), Palmer, C. (Cameron), Ridker, P.M. (Paul), Stumvoll, M. (Michael), Beckmann, J.S. (Jacques), Boeing, H. (Heiner), Boerwinkle, E.A. (Eric), Boomsma, D.I. (Dorret), Caulfield, M. (Mark), Chanock, S.J. (Stephen), Collins, F.S. (Francis), Cupples, L.A. (Adrienne), Eerdmann, J. (Jeanette), Frogue, P. (Philippe), Grönberg, H. (Henrik), Gyllensten, U. (Ulf), Hansen, T. (Torben), Harris, T.B. (Tamara), Hattersley, A.T. (Andrew), Hayes, R.B. (Richard), Heinrich, J. (Joachim), Hu, F.B. (Frank), Hveem, K. (Kristian), Illig, T. (Thomas), Järvelin, M.R., Kaprio, J. (Jaakko), Karpe, F. (Fredrik), Khaw, K-T. (Kay-Tee), Kiemeney, L.A.L.M. (Bart), Krude, H., Laakso, M. (Markku), Lawlor, D.A. (Debbie), Metspalu, A. (Andres), Munroe, P. (Patricia), Ouwehand, W.H. (Willem), Pedersen, O. (Oluf), Penninx, B.W.J.H. (Brenda), Pramstaller, P.P. (Peter Paul), Quertermous, T. (Thomas), Reinehr, T. (Thomas), Rissanen, A. (Aila), Rudan, I. (Igor), Samani, N.J. (Nilesh), Schwarz, P.E.H. (Peter), Shuldiner, A.R. (Alan), Spector, T.D. (Timothy), Tuomilehto, J. (Jaakko), Uda, M. (Manuela), Uitterlinden, A.G. (André), Valle, T.T. (Timo), Wabitsch, M. (Martin), Waeber, G. (Gérard), Wareham, N.J. (Nick), Watkins, H. (Hugh), Wilson, J.F. (James), Wright, A.F. (Alan), Zillikens, M.C. (Carola), ChatterjE, N. (Nilanjan), McCarroll, S.A. (Steve), Purcell, S. (Shaun), Schadt, E.E. (Eric), Visscher, P.M. (Peter), Assimes, T.L. (Themistocles), Borecki, I.B. (Ingrid), Deloukas, P. (Panagiotis), Fox, C.S. (Caroline), Groop, L. (Leif), Haritunians, T. (Talin), Hunter, D.J. (David), Mohlke, K.L. (Karen), O'ConneL, J.R. (Jeffrey), Peltonen, L. (Leena Johanna), SchleSinger, D. (David), Strachan, D.P. (David), Watanabe, R.M. (Richard), Duijn, C.M. (Cornelia) van, Wichmann, H.E. (Heinz Erich), Frayling, T.M. (Timothy), Thorsteinsdottir, U. (Unnur), Abecasis, G.R. (Gonçalo), Boehnke, M. (Michael), StefanSon, K. (Kari), North, K.E. (Kari), McArthy, M.I. (Mark), Hirschhorn, J.N. (Joel), IngelSon, E. (Erik), Loos, R.J.F. (Ruth), and Weedon, M.N. (Michael)
Abstract: Obesity is globaLy prevalent and highly heritable, but its underlying genetic factors remain largely elusive. To identify genetic loci for obesity susceptibility, we examined aSociations betwEn body maS index and ĝ̂1/42.8 miLion SNPs in up to 123,865 individuals with targeted foLow up of 42 SNPs in up to 125,931 aDitional individuals. We confirmed 14 known obesity susceptibility loci and identified 18 new loci aSociated with body maS index (P < 5-10-8), one of which includes a copy number variant near GPRC5B. Some loci (at MC4R, POMC, SH2B1 and BDNF) map near key hypothalamic regulators of energy balance, and one of these loci is near GIPR, an incretin receptor. Furthermore, genes in other newly aSociated loci may provide new insights into human body weight regulation.
Published: 2010
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64. Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts

Author: Aulchenko, Y.S. (Yurii), Ripatti, S. (Samuli), Lindqvist, I. (Ida), Boomsma, D.I. (Dorret), Heid, I.M. (Iris), Pramstaller, P.P. (Peter Paul), Penninx, B.W.J.H. (Brenda), Janssens, A.C.J.W. (Cécile), Wilson, J.F. (James), Spector, T.D. (Timothy), Martin, N.G. (Nicholas), Pedersen, N.L. (Nancy), Kyvik, K.O. (Kirsten Ohm), Kaprio, J. (Jaakko), Hofman, A. (Albert), Freimer, N.B. (Nelson), Jarvelin, M.-R. (Marjo-Riitta), Gyllensten, U. (Ulf), Campbell, H. (Harry), Rudan, I. (Igor), Johansson, A. (Åsa), Marroni, F. (Fabio), Hayward, C. (Caroline), Vitart, V. (Veronique), Jonasson, I. (Inger), Pattaro, C. (Cristian), Wright, A. (Alan), Hastie, N. (Nick), Pichler, I. (Irene), Hicks, A.A. (Andrew), Falchi, M. (Mario), Willemsen, G.A.H.M. (Gonneke), Hottenga, J.J. (Jouke Jan), Geus, E.J.C. (Eco) de, Montgomery, G.W. (Grant), Whitfield, J. (John), Magnusson, P. (Patrik), Saharinen, J. (Juha), Perola, M. (Markus), Silander, K. (Kaisa), Isaacs, A.J. (Aaron), Sijbrands, E.J.G. (Eric), Uitterlinden, A.G. (André), Witteman, J.C.M. (Jacqueline), Oostra, B.A. (Ben), Elliott, P. (Paul), Ruokonen, A. (Aimo), Sabatti, C. (Chiara), Gieger, C. (Christian), Meitinger, T. (Thomas), Kronenberg, F. (Florian), Döring, A. (Angela), Wichmann, H.E. (Erich), Smit, J.H. (Johannes), McCarthy, M.I. (Mark), Tikka-Kleemola, P. (Päivi), Peltonen, L. (Leena Johanna), Aulchenko, Y.S. (Yurii), Ripatti, S. (Samuli), Lindqvist, I. (Ida), Boomsma, D.I. (Dorret), Heid, I.M. (Iris), Pramstaller, P.P. (Peter Paul), Penninx, B.W.J.H. (Brenda), Janssens, A.C.J.W. (Cécile), Wilson, J.F. (James), Spector, T.D. (Timothy), Martin, N.G. (Nicholas), Pedersen, N.L. (Nancy), Kyvik, K.O. (Kirsten Ohm), Kaprio, J. (Jaakko), Hofman, A. (Albert), Freimer, N.B. (Nelson), Jarvelin, M.-R. (Marjo-Riitta), Gyllensten, U. (Ulf), Campbell, H. (Harry), Rudan, I. (Igor), Johansson, A. (Åsa), Marroni, F. (Fabio), Hayward, C. (Caroline), Vitart, V. (Veronique), Jonasson, I. (Inger), Pattaro, C. (Cristian), Wright, A. (Alan), Hastie, N. (Nick), Pichler, I. (Irene), Hicks, A.A. (Andrew), Falchi, M. (Mario), Willemsen, G.A.H.M. (Gonneke), Hottenga, J.J. (Jouke Jan), Geus, E.J.C. (Eco) de, Montgomery, G.W. (Grant), Whitfield, J. (John), Magnusson, P. (Patrik), Saharinen, J. (Juha), Perola, M. (Markus), Silander, K. (Kaisa), Isaacs, A.J. (Aaron), Sijbrands, E.J.G. (Eric), Uitterlinden, A.G. (André), Witteman, J.C.M. (Jacqueline), Oostra, B.A. (Ben), Elliott, P. (Paul), Ruokonen, A. (Aimo), Sabatti, C. (Chiara), Gieger, C. (Christian), Meitinger, T. (Thomas), Kronenberg, F. (Florian), Döring, A. (Angela), Wichmann, H.E. (Erich), Smit, J.H. (Johannes), McCarthy, M.I. (Mark), Tikka-Kleemola, P. (Päivi), and Peltonen, L. (Leena Johanna)
Abstract: Recent genome-wide association (GWA) studies of lipids have been conducted in samples ascertained for other phenotypes, particularly diabetes. Here we report the first GWA analysis of loci affecting total cholesterol (TC), low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol and triglycerides sampled randomly from 16 population-based cohorts and genotyped using mainly the Illumina HumanHap300-Duo platform. Our study included a total of 17,797-22,562 persons, aged 18-104 years and from geographic regions spanning from the Nordic countries to Southern Europe. We established 22 loci associated with serum lipid levels at a genome-wide significance level (P < 5 × 10-8), including 16 loci that were identified by previous GWA studies. The six newly identified loci in our cohort samples are ABCG5 (TC, P = 1.5 × 10-11; LDL, P = 2.6 × 10-10), TMEM57 (TC, P = 5.4 × 10-10), CTCF-PRMT8 region (HDL, P = 8.3 × 10-16), DNAH11 (LDL, P = 6.1 × 10-9), FADS3-FADS2 (TC, P = 1.5 × 10-10; LDL, P = 4.4 × 10-13) and MADD-FOLH1 region (HDL, P = 6 × 10-11). For three loci, effect sizes differed significantly by sex. Genetic risk scores based on lipid loci explain up to 4.8% of variation in lipids and were also associated with increased intima media thickness (P = 0.001) and coronary heart disease incidence (P = 0.04). The genetic risk score improves the screening of high-risk groups of dyslipidemia over classical risk factors.
Published: 2009
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64 results on '"Montgomery, G.W. (Grant)"'

51. Mining the Human Phenome Using Allelic Scores That Index Biological Intermediates

52. Genetic Loci for Retinal Arteriolar Microcirculation

53. A Genome-Wide Association Study Identifies Five Loci Influencing Facial Morphology in Europeans

54. Genome-wide meta-analysis of common variant differences between men and women

55. Common genetic determinants of intraocular pressure and primary open-angle Glaucoma

56. A genome-wide screen for interactions reveals a new locus on 4p15 modifying the effect of waist-to-hip ratio on total cholesterol

57. Meta-analysis of genome-wide association for migraine in six population-based European cohorts

58. Genetic architecture of circulating lipid levels

59. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

60. Hundreds of variants clustered in genomic loci and biological pathways affect human height

61. Biological, clinical and population relevance of 95 loci for blood lipids

62. Digital quantification of human eye color highlights genetic association of three new loci.

63. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

64. Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts

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