DNA双链断裂修复基因3′UTR的多态性与汉族人年龄相关性白内障的关系

The association between single nucleotide polymorphism in the 3′UTR of DNA double strand break repair genes and age-related cataract in Han Chinese

目的探讨DNA双链断裂修复基因3′非翻译区(3′UTR)的单核苷酸多态性(SNP)与汉族人年龄相关性白内障(ARC)的关系。方法提取无锡滨湖区和盐城阜宁县ARC患者(ARC组,789例)及正常人(对照组,789例)的全血基因组DNA;采用Taqman荧光探针和实时荧光定量PCR法分析4个双链断裂修复基因3′UTR的4个SNP位点的基因型,比较各位点在两组之间的分布差异并计算相对危险度(OR)。结果 XRCC5-rs1051685与ARC、皮质性和混合性ARC密切相关(OR=1.61、2.12和1.89,P<0.01),RAD52-rs1051669与ARC、皮质性和核性ARC密切相关(OR=0.72、0.69和0.71,P<0.05)。结论 XRCC5、RAD52基因3′UTR的多态性在汉族人ARC的发生、发展中起重要作用,不同亚型的ARC可能具有特异性的危险因素和致病机制。

Objective To study the association between single nucleotide polymorphism（SNP）in the 3′-untranslated region（3′UTR）of 4DNA double strand break repair genes（XRCC5,RAD52,HUS1 and MRE11A）and age-related cataract（ARC）in Han Chinese.Methods Genomic DNA was isolated from leukocytes in 789 ARC patients and 789 healthy volunteers from Binhu district of Wuxi and Funing county of Yancheng.Genotyping of all 4 SNPs was conducted by Taqman assay and qRT-PCR.The difference of alleles frequencies between ARC patients and healthy volunteers was compared and odds ratios（OR）were estimated.Results XRCC5-rs1051685 was initially associated with ARC in general,cortical and mixed cataract（OR=1.61,2.12 and 1.89,P〈0.01）.RAD52-rs1051669 was initially associated with ARC in general,cortical and nuclear cataract（OR=0.72,0.69 and 0.71,P〈0.05）.Conclusion Polymorphisms in 3′UTR of XRCC5 and RAD52genes are involved in the occurrence and development of ARC in Han Chinese population.Different ARC subtypes may be associated with specific risk factors and pathogenetic mechanism.