Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration.

ABSTRACT: Age-related macular degeneration (AMD) is the most common form of irreversible blindness in developed countries. Variants in the factor H gene (CFH, also known as HF1), which encodes a major inhibitor of the alternative complement pathway, are associated with the risk for developing AMD. Here we test the hypothesis that variation in genes encoding other regulatory proteins of the same pathway is associated with AMD. We screened factor B (BF) and complement component 2 (C2) genes, located in the major histocompatibility complex class III region, for genetic variation in two independent cohorts comprising approximately 900 individuals with AMD and approximately 400 matched controls. Haplotype analyses identify a statistically significant common risk haplotype (H1) and two protective haplotyp

SUBMITTER: Gold B 

PROVIDER: S-EPMC2921703 | biostudies-literature | 2006 Apr

REPOSITORIES: biostudies-literature