title: Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration.
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.
authors.affiliation: Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI, USA.
authors.forename: Sepideh
authors.initials: S
authors.lastname: Zareparsi
authors.forename: Kari E H
authors.initials: KE
authors.lastname: Branham
authors.forename: Mingyao
authors.initials: M
authors.lastname: Li
authors.forename: Sapna
authors.initials: S
authors.lastname: Shah
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Klein
authors.forename: Jurg
authors.initials: J
authors.lastname: Ott
authors.forename: Josephine
authors.initials: J
authors.lastname: Hoh
authors.forename: Gonçalo R
authors.initials: GR
authors.lastname: Abecasis
authors.forename: Anand
authors.initials: A
authors.lastname: Swaroop
mesh_terms: D000368:Aged; D016022:Case-Control Studies; D002878:Chromosomes, Human, Pair 1; D017242:Complement Factor H / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D008957:Models, Genetic; D011110:Polymorphism, Genetic; D012306:Risk
chemical_list: C493495:CFH protein, human; D017242:Complement Factor H