Further mapping of 10q26 supports strong association of HTRA1 polymorphisms with age-related macular degeneration
Further mapping of 10q26 supports strong association of HTRA1 polymorphisms with age-related macular degeneration
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DOI：
10.1016/j.visres.2007.10.022
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发表时间：
2008-02-01
期刊：
影响因子：
1.8
通讯作者：
Zhang, Kang
中科院分区：
文献类型：
--
作者：
Gibbs, Daniel;Yang, Zhenglin;Zhang, Kang
视网膜相关性黄斑变性（AMD）是一种受遗传和环境影响的复杂疾病。影响AMD的遗传影响尚未得到很好的理解，并且很少有基因一直与这种疾病有关并复制。HTRA1基因转录因子结合位点的多态性（rs11200638）在以前的报道中被描述为与AMD最显著相关。在本文中，我们调查单倍型关联和个体多态性关联的基因分型AMD风险相关区域染色体10q26的其他变异。我们证明HTRA1启动子区的rs11200638和外显子1的rs2293870是晚期AMD最显著相关的变异。(C)2008年由Elsevier Ltd.出版
Age-related macular degeneration (AMD) is a complex disorder with genetic and environmental influences. The genetic influences affecting AMD are not well understood and few genes have been consistently implicated and replicated for this disease. A polymorphism (rs11200638) in a transcription factor binding site of the HTRA1 gene has been described, in previous reports, as being most significantly associated with AMD. In this paper, we investigate haplotype association and individual polymorphic association by genotyping additional variants in the AMD risk-associated region of chromosome 10q26. We demonstrate that rs11200638 in the promoter region and rs2293870 in exon 1 of HTRA1, are among the most significantly associated variants for advanced forms of AMD. (C) 2008 Published by Elsevier Ltd.