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

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 2005 May 17

PMID 15895326

Citations 151

Authors

Sepideh Zareparsi

Kari E H Branham

Mingyao Li

Sapna Shah

Robert J Klein

Jurg Ott

Josephine Hoh

Goncalo R Abecasis

Anand Swaroop

Affiliations

Soon will be listed here.

Abstract

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<1x10(-24)). Genotype frequencies also differ markedly between cases and controls (chi2=112.68 [2 degrees of freedom]; P<1x10(-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.

Citing Articles

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