年龄相关性黄斑变性中的补体因子H多态性
Complement factor H polymorphism in age-related macular degeneration.
作者信息
Klein Robert J, Zeiss Caroline, Chew Emily Y, Tsai Jen-Yue, Sackler Richard S, Haynes Chad, Henning Alice K, SanGiovanni John Paul, Mane Shrikant M, Mayne Susan T, Bracken Michael B, Ferris Frederick L, Ott Jurg, Barnstable Colin, Hoh Josephine
机构信息
Laboratory of Statistical Genetics, Rockefeller University, 1230 York Avenue, New York, NY 10021, USA.
出版信息
Science. 2005 Apr 15;308(5720):385-9. doi: 10.1126/science.1109557. Epub 2005 Mar 10.
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.
年龄相关性黄斑变性（AMD）是老年人失明的主要原因。我们报告了一项针对96例AMD患者和50名对照进行的全基因组筛查，以寻找与AMD相关的多态性。在对116,204个单核苷酸多态性进行基因分型后，发现补体因子H基因（CFH）中的一个内含子常见变异与AMD密切相关（名义P值<10^(-7)）。在风险等位基因纯合的个体中，患AMD的可能性增加了7.4倍（95%置信区间为2.9至19）。重测序揭示了一个与风险等位基因处于连锁不平衡状态的多态性，该多态性代表第402位氨基酸由酪氨酸变为组氨酸。此多态性位于CFH中与肝素和C反应蛋白结合的区域。CFH基因位于1号染色体上，在基于家系的研究中该区域多次与AMD相关联。
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