Journal article

Analysis of the Y402H variant of the complement factor H gene in age-related macular degeneration

Paul N Baird, FM Amirul Islam, Andrea J Richardson, Melinda Cain, Nicola Hunt, Robyn Guymer

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | ASSOC RESEARCH VISION OPHTHALMOLOGY INC | Published : 2006

Abstract

PURPOSE: Recent studies in U.S. populations have indicated that the Y402H variant of the complement factor H (CFH) gene contains a major risk susceptibility allele for age-related macular degeneration (AMD). This study was conducted to ascertain whether this is also true in a non-U.S. population and also whether the at-risk allele is associated with the clinical phenotype of disease and the age at diagnosis. METHODS: Two hundred thirty-six unrelated individuals with AMD and 144 unrelated but ethnically matched control subjects were recruited and examined. All subjects completed a standard questionnaire, were given a fundus examination, and provided a blood sample for DNA extraction. Alleles ..

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