黄斑变性
载脂蛋白E
生物
基因型
优势比
置信区间
等位基因
内科学
队列
风险因素
遗传学
胃肠病学
疾病
基因
眼科
医学
作者
Paul N. Baird,Andrea J. Richardson,Liubov Robman,Peter Dimitrov,Gabriella Tikellis,Catherine A. McCarty,Robyn H. Guymer
出处
期刊:Human Mutation
[Wiley]
日期:2006-01-01
卷期号:27 (4): 337-342
被引量:103
摘要
Progression of age-related macular degeneration (AMD), the leading cause of blindness in the elderly, was followed in a cohort of 238 individuals from a single center. Individuals with an epsilon (epsilon)2 genotype (c.526C>T of reference sequence NM_000041.2) of the apolipoprotein (APOE) gene were found to be strongly associated with disease with a significant 4.8-fold increased relative risk compared to individuals with an epsilon4 genotype (c.388T>C of reference sequence NM_000041.2) (odds ratio [OR], 4.8; 95% confidence interval [CI], 1.19-19.09) and a nearly significant three-fold increased relative risk compared to individuals with an epsilon3 genotype (reference sequence NM_000041.2) (OR, 2.8; 95% CI, 0.96-19.09). This finding was present only in females who progressed with AMD, which suggests that there may be a gender-specific role in progression of AMD in individuals with an epsilon2 allele. A gender-related factor is therefore implicated either directly or indirectly in the AMD disease process.
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