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

Fritsche, L. G. ; Igl, Wilmar ; Bailey, J. N. ; Grassmann, Felix ; Sengupta, Sebanti ; Bragg-Gresham, Jennifer L. ; Burdon, Kathryn P. ; Hebbring, Scott J. ; Weber, Bernhard H. F. ; Heid, Iris M.


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 x 10(-8)) ...


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