منابع مشابه
Complement factor H polymorphism and age-related macular degeneration.
Age-related macular degeneration (AMD) is a common, late-onset, and complex trait with multiple risk factors. Concentrating on a region harboring a locus for AMD on 1q25-31, the ARMD1 locus, we tested single-nucleotide polymorphisms for association with AMD in two independent case-control populations. Significant association (P = 4.95 x 10(-10)) was identified within the regulation of complemen...
متن کاملComplement factor h autoantibodies and age-related macular degeneration.
PURPOSE In this case-control study, the hypothesis that factor H autoantibodies are associated with age-related macular degeneration (AMD) was examined. METHODS One hundred AMD patients (median age, 78 years), 98 age-matched control subjects (median age, 78 years) known not to have AMD, and 100 healthy blood donors (median age, 43 years) were enrolled. An enzyme-linked immunosorbent assay (EL...
متن کاملComplement factor H polymorphism in age-related macular degeneration.
PURPOSE To determine the association between complement factor H (CFH) polymorphism T1277C (tyrosine-402 --> histidine-402) and phenotypic variations of age-related macular degeneration (AMD). DESIGN Cross-sectional observational study. PARTICIPANTS Subjects with dry or wet AMD and a control population consisting of age-matched non-AMD subjects from 2 clinical facilities examined during the...
متن کاملComplement factor I and age-related macular degeneration
PURPOSE The complement system has been implicated in the pathogenesis of age-related macular degeneration (AMD). Complement factor I (CFI) is a serum protease that inhibits all complement pathways. A previous multicenter study identified a single missense CFI mutation (p.Gly119Arg) in 20/3,567 (0.56%) of AMD cases versus 1/3,937 (0.025%) of controls, thus suggesting that this mutation confers a...
متن کاملCopy number variation in the complement factor H-related genes and age-related macular degeneration
PURPOSE To determine the contribution of copy number variation (CNV) in the regulation of complement activation (RCA) locus to the development of age-related macular degeneration (AMD). METHODS A multiplex ligation-dependent probe amplification assay was developed to quantify the number of copies of CFH, CFHR3, CFHR1, CFHR4, CFHR2, and CFHR5 in humans. Subjects with (451) and without (362) AM...
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ژورنال
عنوان ژورنال: Ophthalmology
سال: 2008
ISSN: 0161-6420
DOI: 10.1016/j.ophtha.2008.03.021