ERCC6基因单核苷酸多态性与年龄相关性白内障的关联研究

Association of ERCC6 gene single nucleotide polymorphisms with age-related cataract

目的探讨江苏汉族人群中ERCC6基因单核苷酸多态性(single nucleotide polymorphisms,SNP)与年龄相关性白内障(age-related cataract,ARC)的相关性。方法收集江苏省阜宁县眼病研究数据库(现场工作于2010年6月至2011年5月进行)中357例ARC患者为ARC组,356例与患者年龄、性别相匹配且无亲属关系者为对照组。采用Taq ManMGB探针实时荧光聚合酶链反应方法检测ERCC6基因4个位点(rs12571445、rs4253160、rs2228526、rs3793784)SNP。采用χ2检验比较对照组和ARC组之间等位基因及基因型分布是否有差异。结果 rs2228526在ARC组中等位基因G的频率为14.57%,高于对照组中10.81%,差异有统计学意义(P=0.033),提示等位基因G增加白内障的患病风险。该位点G等位基因和GG、GA基因型增加了核型白内障的患病风险(P=0.007;P=0.031)。其他位点差异均无统计学意义(rs12571445:P=0.33;rs4253160:P=0.65)。结论 ERCC6基因SNP-rs2228526位点与ARC发病存在关联,提示该SNP在核型ARC的发生发展中发挥着一定作用。

Objective To investigate the association of ERCC6 gene single nucleotide polymorphisms （SNP） with age-related cataract （ARC） in Jiangsu Chinese population. Methods Population-based case-control study. All of 357 cataract cases and 356 controls were selected from cataract eye database of Funing County from June 2010 to May 2011. All 4 single nucleotide polymorphism （SNPs） of ERCC6 gene （ rs12571445, rs4253160, rs2228526 and rs3793784） were genotyped by TaqMan-MGB probes using quantitative real time polymerase chain reaction （qRT-PCR）. Chi-square was used to test the allelic and genotypic associations between controls and ARCs. Results The frequency of the minor G allele of rs2228526 was 14.57% in the ARCs, and 10. 18% in the controls, there was ststiatical difference （P = 0.033 ）, indicating a risk role. Genotype frequency analysis, GG and GA were significant difference between controls and nuclear ARCs （P = 0. 007, 0. 031 ）. The other 3 SNPs were not associated with ARCs （rs12571445,P=0.33;rs4253160：P=0.65）. Conclusion The rs2228526 SNP of ER- CC6 is associated with ARC, which may play a risk role in the development of nuclear ARC.