Article
Synergic effect of polymorphisms in ERCC6 5' flanking region and complement factor H on age-related macular degeneration predisposition.
Proceedings of the National Academy of Sciences of the United States of America - 13 Jun 2006
Tuo Jingsheng, Ning Baitang, Bojanowski Christine M, Lin Zhong-Ning, Ross Robert J, Reed George F, Shen Defen, Jiao Xiaodong, Zhou Min, Chew Emily Y, Kadlubar Fred F, Chan Chi-Chao
Abstract excerpt
This study investigates age-related macular degeneration (AMD) genetic risk factors through identification of a functional single-nucleotide polymorphism (SNP) and its disease association. We chose ERCC6 because of its roles in the aging process, DNA repair, and ocular degeneration from the gene disruption. Bioinformatics indicated a putative binding-element alteration on the sequence containing C-6530>G SNP in...
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