Article
A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration.
Nature genetics - 1 Nov 2013
Helgason Hannes, Sulem Patrick, Duvvari Maheswara R, Luo Hongrong, Thorleifsson Gudmar, Stefansson Hreinn, Jonsdottir Ingileif, Masson Gisli, Gudbjartsson Daniel F, Walters G Bragi, Magnusson Olafur Th, Kong Augustine, Rafnar Thorunn, Kiemeney Lambertus A, Schoenmaker-Koller Frederieke E, Zhao Ling, Boon Camiel J F, Song Yaojun, Fauser Sascha, Pei Michelle, Ristau Tina, Patel Shirrina, Liakopoulos Sandra, van de Ven Johannes P H, Hoyng Carel B, Ferreyra Henry, Duan Yaou, Bernstein Paul S, Geirsdottir Asbjorg, Helgadottir Gudleif, Stefansson Einar, den Hollander Anneke I, Zhang Kang, Jonasson Fridbert, Sigurdsson Haraldur, Thorsteinsdottir Unnur, Stefansson Kari
Abstract excerpt
Through whole-genome sequencing of 2,230 Icelanders, we detected a rare nonsynonymous SNP (minor allele frequency = 0.55%) in the C3 gene encoding a p.Lys155Gln substitution in complement factor 3, which, following imputation into a set of Icelandic cases with age-related macular degeneration (AMD) and controls, associated with disease (odds ratio (OR) = 3.45; P = 1.1 × 10(-7)). This signal is independent of the...
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