A common complement C3 variant is associated with protection against wet age-related macular degeneration in a Japanese population.

Suiho Yanagisawa
Naoshi Kondo
Akiko Miki
Wataru Matsumiya
Sentaro Kusuhara
Yasutomo Tsukahara
Shigeru Honda
Akira Negi

Open link

DOI

10.1371/journal.pone.0028847

Publisher

Public Library of Science (PLoS)

Journal

issn:1932-6203

Abstract

BACKGROUND: Genetic variants in the complement component 3 gene (C3) have been shown to be associated with age-related macular degeneration (AMD) in Caucasian populations of European descent. In particular, a nonsynonymous coding variant, rs2230199 (R102G), is presumed to be the most likely causal variant in the C3 locus based on strong statistical evidence for disease association and mechanistic functional evidence. However, the risk allele is absent or rare (<1%) in Japanese and Chinese populations, and the association of R102G with AMD has not been reported in Asian populations. Genetic heterogeneity of disease-associated variants among different ethnicities is common in complex diseases. Here, we sought to examine whether other common v...