Strong Association of the Y402H Variant in Complement Factor H at 1q32 with Susceptibility to Age-Related Macular Degeneration

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American Society of Human Genetics

RESUMO

Using a large sample of cases and controls from a single center, we show that a T→C substitution in exon 9 (Y402H) of the complement factor H gene is strongly associated with susceptibility to age-related macular degeneration, the most common cause of blindness in the elderly. Frequency of the C allele was 0.61 in cases, versus 0.34 in age-matched controls (P<1×10-24). Genotype frequencies also differ markedly between cases and controls (χ2=112.68 [2 degrees of freedom]; P<1×10-24). A multiplicative model fits the data well, and we estimate the population frequency of the high-risk C allele to be 0.39 (95% confidence interval 0.36–0.42) and the genotype relative risk to be 2.44 (95% confidence interval 2.08–2.83) for TC heterozygotes and 5.93 (95% confidence interval 4.33–8.02) for CC homozygotes.

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