系数H
黄斑变性
连锁不平衡
遗传学
等位基因
单核苷酸多态性
生物
医学
补体因子B
补体系统
基因座(遗传学)
基因型
补体因子I
眼科
基因
抗体
作者
Robert J. Klein,Caroline J. Zeiss,Emily Y. Chew,Jen-Yue Tsai,Richard S. Sackler,Chad Haynes,Alice K. Henning,John Paul SanGiovanni,Shrikant Mane,Susan T. Mayne,Michael B. Bracken,Frederick L. Ferris,Jürg Ott,Colin J. Barnstable,Josephine Hoh
出处
期刊:Science
[American Association for the Advancement of Science (AAAS)]
日期:2005-04-15
卷期号:308 (5720): 385-389
被引量:4120
标识
DOI:10.1126/science.1109557
摘要
Age-related macular degeneration (AMD) is a major cause of blindness in the elderly. We report a genome-wide screen of 96 cases and 50 controls for polymorphisms associated with AMD. Among 116,204 single-nucleotide polymorphisms genotyped, an intronic and common variant in the complement factor H gene (CFH) is strongly associated with AMD (nominal P value <10(-7)). In individuals homozygous for the risk allele, the likelihood of AMD is increased by a factor of 7.4 (95% confidence interval 2.9 to 19). Resequencing revealed a polymorphism in linkage disequilibrium with the risk allele representing a tyrosine-histidine change at amino acid 402. This polymorphism is in a region of CFH that binds heparin and C-reactive protein. The CFH gene is located on chromosome 1 in a region repeatedly linked to AMD in family-based studies.
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