The HtrA1 promoter polymorphism, smoking, and age-related macular degeneration in multiple case-control samples.
The HtrA1 promoter polymorphism, smoking, and age-related macular degeneration in multiple case-control samples.
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DOI：
10.1016/j.ophtha.2008.05.021
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发表时间：
2008-11
期刊：
影响因子：
13.7
通讯作者：
Chan CC
中科院分区：
文献类型：
--
作者：
Tuo J;Ross RJ;Reed GF;Yan Q;Wang JJ;Bojanowski CM;Chew EY;Feng X;Olsen TW;Ferris FL 3rd;Mitchell P;Chan CC
旨在评估 HtrA1 和补体因子 H (CFH) 多态性、吸烟和血清胆固醇对年龄相关性黄斑变性 (AMD) 风险的关联和综合影响。基于临床和人群的病例控制。来自国家眼科研究所眼科诊所、年龄相关眼病研究 (AREDS)、蓝山眼科研究队列和明尼苏达狮子眼库的 805 例 AMD 病例和 921 例对照。对 DNA 样本进行 HtrA1 启动子中 rs11200638 和 CFH 中 rs380390 多态性的基因分型。测量眼组织中的 HtrA1 蛋白。评估了 HtrA1 风险等位基因与 CFH 风险变异、吸烟状况和胆固醇的相互作用。 AMD 由视网膜专家进行评估，并确定 AMD 亚型（地理萎缩和新生血管形成）。所有样本集中都存在 HtrA1 风险等位基因 (A) 与 AMD 的强关联。中心性地理萎缩和新生血管性 AMD 也观察到类似程度的相关性。 HtrA1 和 CFH 风险等位基因的组合会增加 AMD 易感性，HtrA1 风险等位基因与吸烟的组合也会增加。未发现 HtrA1 风险等位基因和胆固醇水平的联合影响。在患有 AMD 的视网膜中检测到 HtrA1 蛋白表达增强。多个样本的研究结果支持 HtrA1 中存在 AMD 基因变异。当 HtrA1 风险等位基因与 CFH 风险等位基因或吸烟史相结合时，晚期 AMD 的风险会增加。
To assess the association and combined effect on the risk of age-related macular degeneration (AMD) by the HtrA1 and complement factor H (CFH) polymorphisms, smoking and serum cholesterol. Clinic-based and population-based case-control. Eight hundred and five AMD cases and 921 controls from The Eye Clinic of National Eye Institute, Age-Related Eye Diseases Study (AREDS), Blue Mountain Eye Study Cohort, and Minnesota Lions Eye Bank. DNA Samples were genotyped for polymorphisms of rs11200638 in HtrA1 promotor and rs380390 in CFH. HtrA1 protein in ocular tissue was measured. Interactions of the HtrA1 risk allele with the CFH risk variant, smoking status and cholesterol were assessed. AMD was evaluated by retinal specialists and AMD subtypes (geographic atrophy and neovascularization) were determined. Strong associations of the HtrA1 risk allele (A) with AMD were present in all sample sets. A similar magnitude of association was observed for central geographic atrophy and neovascular AMD. The combination of the HtrA1 and CFH risk alleles increased AMD susceptibility, as did the combination of the HtrA1 risk allele with smoking. No combined effect of HtrA1 risk allele and cholesterol level was found. Enhanced expression of HtrA1 protein was detected in retina with AMD. Findings from multiple samples support an AMD genetic variant harbored within HtrA1. The risk of advanced AMD increased when the presence of risk alleles from HtrA1 was combined with either CFH risk alleles or history of smoking.
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DOI：
10.1073/pnas.0501536102
发表时间：
2005-05-17
影响因子：
11.1
作者：
Hageman, GS;Anderson, DH;Allikmets, R
通讯作者：
Allikmets, R
影响因子：
--
作者：
Kassoff, A;Kassoff, J;Chew, EY
通讯作者：
Chew, EY
影响因子：
30.8
作者：
Hughes, Anne E.;Orr, Nick;Chakravarthy, Usha
通讯作者：
Chakravarthy, Usha
影响因子：
56.9
作者：
Edwards, AO;Ritter, R;Farrer, LA
通讯作者：
Farrer, LA
影响因子：
1.8
作者：
Foran, S;Wang, JJ;Mitchell, P
通讯作者：
Mitchell, P