A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

L.G. Fritsche, W. Igl, J.N.C. Bailey, F. Grassmann, S. Sengupta, J.L. Bragg-Gresham, K.P. Burdon, S.J. Hebbring, C. Wen, M. Gorski, I.K. Kim, D. Cho, D. Zack, E. Souied, H.P.N. Scholl, E. Bala, K. Elee, D.J. Hunter, R.J. Sardell, P. MitchellJ.E. Merriam, V. Cipriani, J.D. Hoffman, T. Schick, Y.T.E. Lechanteur, R.H. Guymer, M.P. Johnson, Y. Jiang, C.M. Stanton, G.H.S. Buitendijk, X. Zhan, A.M. Kwong, A. Boleda, M. Brooks, L. Gieser, R. Ratnapriya, K.E. Branham, J.R. Foerster, J.R. Heckenlively, M.I. Othman, B.J. Vote, H.H. Liang, E. Souzeau, Ian Mcallister, Timothy Isaacs, J. Hall, S. Lake, David Mackey, Ian Constable, J.E. Craig, T.E. Kitchner, Z. Yang, Z. Su, H. Luo, D. Chen, H. Ouyang, K. Flagg, D. Lin, G. Mao, H. Ferreyra, K. Stark, C.N. Von Strachwitz, A. Wolf, C. Brandl, G. Rudolph, M. Olden, M.A. Morrison, D.J. Morgan, M. Schu, J. Ahn, G. Silvestri, E. Etsironi, K.H. Park, L.A. Farrer, A. Orlin, A. Brucker

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521 Citations (Scopus)

Abstract

© 2016 Nature America, Inc. Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the elderly, with limited therapeutic options. Here we report on a study of >12 million variants, including 163,714 directly genotyped, mostly rare, protein-altering variants. Analyzing 16,144 patients and 17,832 controls, we identify 52 independently associated common and rare variants (P <5 × 10 -8) distributed across 34 loci. Although wet and dry AMD subtypes exhibit predominantly shared genetics, we identify the first genetic association signal specific to wet AMD, near MMP9 (difference P value = 4.1 × 10 -10). Very rare coding variants (frequency
Original languageEnglish
Pages (from-to)134-143
JournalNature Genetics
Volume48
Issue number2
DOIs
Publication statusPublished - 2016

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