系数H
黄斑变性
单倍型
基因座(遗传学)
遗传学
单核苷酸多态性
医学
优势比
生物
补体系统
补体因子B
补体因子I
病因学
内科学
眼科
基因
等位基因
基因型
抗体
作者
Jonathan L. Haines,Michael A. Hauser,Silke Schmidt,William K. Scott,Lana M. Olson,Paul J. Gallins,Kylee L. Spencer,Shu Ying Kwan,Maher Noureddine,John R. Gilbert,Nathalie Schnetz-Boutaud,Anita Agarwal,Eric A. Postel,Margaret A. Pericak‐Vance
出处
期刊:Science
[American Association for the Advancement of Science (AAAS)]
日期:2005-04-15
卷期号:308 (5720): 419-421
被引量:2237
标识
DOI:10.1126/science.1110359
摘要
Age-related macular degeneration (AMD) is a leading cause of visual impairment and blindness in the elderly whose etiology remains largely unknown. Previous studies identified chromosome 1q32 as harboring a susceptibility locus for AMD. We used single-nucleotide polymorphisms to interrogate this region and identified a strongly associated haplotype in two independent data sets. DNA resequencing of the complement factor H gene within this haplotype revealed a common coding variant, Y402H, that significantly increases the risk for AMD with odds ratios between 2.45 and 5.57. This common variant likely explains ∼43% of AMD in older adults.
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