OMIM: #611378 MACULAR DEGENERATION, AGE-RELATED, 9; ARMD9

...A number sign (#) is used with this entry because there is a significant association between a polymorphism in the C3 gene (120700) and susceptibility to age-related macular degeneration. For a phenotypic description and a discussion of genetic heterogeneity of age-related macular degeneration, see 603075. MOLECULAR GENETICS Yates et al. (2007) genotyped SNPs spanning the complement genes C3 (120700) and C5 (120900) in 603 Caucasian English patients with age-related macular degeneration and 350 controls. They found that the common functional arg102-to-gly (R102G) polymorphism in the C3 gene (dbSNP rs2230199; 120700.0001), which they referred to as R80G based on numbering that eliminated the 22 residues of the signal peptide, was strongly associated with ARMD (p = 5.9 x 10(-5)). The association was replicated in a Scottish group of 244 cases and 351 controls (p = 5.0 x 10(-5)). The 102R and 102G variants correspond to slow (C3S) and fast (C3F) electrophoretic allotypes, respectively. The odds ratio for ARMD in SF heterozygotes and FF homozygotes was 1.7 and 2.6, respectively, compared to SS homozygotes. The estimated population attributable risk for C3F was 22%. Maller et al. (2007) likewise found association between the 102G variant and age-related macular degeneration. Fritsche et al. (2013) identified association of the C allele of dbSNP rs2230199 with increased risk of ARMD (OR 1.42, 95% CI 1.37-1.47, combined p = 1 x 10(-41)). Seddon et al. (2013) sequenced the exons of 681 genes within all reported ARMD loci and related pathways in 2,493 cases. They genotyped 5,115 independent samples and confirmed association with ARMD of an allele in C3 encoding a lys155-to-gln variant (K155Q; 120700.0010) (dbSNP rs147859257). Helgason et al. (2013) and Zhan et al. (2013) also found association of the K155Q variant in C3 with ARMD.

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SNP: rs147859257

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