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. 2005 Jul;77(1):149-53.
doi: 10.1086/431426. Epub 2005 May 13.

Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration

Sepideh Zareparsi  1 , Kari E H Branham, Mingyao Li, Sapna Shah, Robert J Klein, Jurg Ott, Josephine Hoh, Gonçalo R Abecasis, Anand Swaroop
Affiliations

Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration

Sepideh Zareparsi et al. Am J Hum Genet. 2005 Jul.

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.

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References

Web Resources

    1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim/ (for ARMD1, ABCA4, TIMP3, RDS/peripherin, ELOVL4, fibulin-3, Doyne honeycomb retinal dystrophy, fibulin-5, fibulin-6, APOE, TLR4, and CFH)

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