Complement Factor H Polymorphism in Age-Related Macular Degeneration
Complement Factor H Polymorphism in Age-Related Macular Degeneration
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DOI：
10.1016/j.ajo.2005.06.004
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发表时间：
2005-04
期刊：
影响因子：
56.9
通讯作者：
R. Klein;C. Zeiss;E. Chew;J. Tsai;R. Sackler;Chad Haynes;A. Henning;J. Sangiovanni;S. Mane
中科院分区：
文献类型：
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作者：
R. Klein;C. Zeiss;E. Chew;J. Tsai;R. Sackler;Chad Haynes;A. Henning;J. Sangiovanni;S. Mane
视网膜相关性黄斑变性（AMD）是老年人失明的主要原因。我们报告了一个全基因组筛选的96例和50例对照与AMD相关的多态性。在116，204个单核苷酸多态性基因分型中，补体因子H基因（CFH）的内含子和常见变异与AMD密切相关（名义P值<10-7）。在风险等位基因纯合子的个体中，AMD的可能性增加7.4倍（95%置信区间2.9至19）。重测序揭示了一个多态性连锁不平衡的风险等位基因代表酪氨酸-组氨酸的变化在氨基酸402。这种多态性位于CFH结合肝素和C-反应蛋白的区域。CFH基因位于1号染色体上的一个区域，在基于家族的研究中反复与AMD相关。
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 (nominalPvalue <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. TheCFHgene is located on chromosome 1 in a region repeatedly linked to AMD in family-based studies.