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Polymorphisms association study of LOC387715 and CFH with age-related macular degeneration in a Chinese Han population           ★★★
Polymorphisms association study of LOC387715 and CFH with age-related macular degeneration in a Chinese Han population
作者:陈雯 文章来源:华中科技大学同济医学院附属协和医院 点击数:222 更新时间:2012/9/13
Design-Retrospective case-control study
Purpose Genetic variation has been reported in age-related macular degeneration (AMD) among different ethnic groups. To evaluate the associations of polymorphic genotypes of ( (Complement Factor H (CFH) and LOC387715/ARMS2 loci with AMD in a Chinese Han population.
Methods 140 unrelated patients with AMD and 216 health controls were recruited for this study. 3 SNPs (rs1410996, rs800292 and rs10490924) were assessed by using single-SNP and haplotype analyses. The association between genes andAMD were analyzed by using multivariate non-conditional Logistic regression analysis
Results  An significantly risk association was found between rs10490924 and AMD (P=0.0001, OR: 3.46, 95%CI: 1.84, 6.51). Both rs800292 and rs1410996 were all shown to be associated with reduced risk for AMD (P=0.04, OR: 0.48, 95%CI: 0.24-0.96; p=0.04, OR:0.48, 95%CI: 0.24-0.98, respectively). C-A haplotype (CFHrs1410996-rs800292) showed a protective effect against AMD (OR=0.54).C-G haplotypeT-A haplotype (CFH rs1410996-rs800292) appeared to increase the risk of AMD (OR=2.75; OR=2.44; respectively).
Conclusions The association of rs10490924 and AMD was replicated in Chinese Han population. Rs800292 and rs1410996 were all shown to be associated with reduced risk for AMD. Risk haplotypes and protective haplotypes were found in this study.
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