基因座(遗传学)
黄斑变性
单核苷酸多态性
遗传学
生物
系数H
医学
补体因子B
数量性状位点
基因型
基因
补体系统
眼科
抗体
作者
Albert O. Edwards,Robert Ritter,Kenneth Abel,Alisa K. Manning,Carolien Panhuysen,Lindsay A. Farrer
出处
期刊:Science
[American Association for the Advancement of Science (AAAS)]
日期:2005-04-15
卷期号:308 (5720): 421-424
被引量:2293
标识
DOI:10.1126/science.1110189
摘要
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 × 10 -10 ) was identified within the regulation of complement activation locus and was centered over a tyrosine-402 → histidine-402 protein polymorphism in the gene encoding complement factor H. Possession of at least one histidine at amino acid position 402 increased the risk of AMD 2.7-fold and may account for 50% of the attributable risk of AMD.
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