眼科新进展2017，Vol.37Issue(11)：1040-1043,1048,5.DOI:10.13389/j.cnki.rao.2017.0263
DNA修复基因的多态性以及DNA损伤与年龄相关性白内障的关系
Single nucleotide polymorphisms in DNA repair genes and the association of DNA damage with age-related cataract
摘要
Abstract
Objective To examine the association of 18 single nucleotide polymorphisms (SNPs) in 4 DNA repair genes (BLM,WRN,ERCC6 and OGG1) with age-related cataract (ARC) in a Han Chinese population from Jiangsu Eye Study and to determine the possible functional consequence of the SNPs to DNA damage.Methods Together 18 SNPs in 4 DNA repair genes were genotyped in 789 ARC patients and 531 normal controls from Jiangsu Eye Study.The Comet assay was conducted to assess the extent of DNA damage in peripheral lymphocytes of the selected subjects.Results The results showed that WRN-rs11574311 was initially associated with ARC in general,cortical and mixed cataracts (P =0.003,OR =1.49;P =0.001,OR =1.68 and P ＜0.000 1,OR=2.08),BLM-rs1063147 with nuclear cataracts (P =0.03,OR =1.31),WRN-rs2725383 with cortical cataracts (P =0.01,OR =1.49),WRN-rs4733220 and WRN-rs2725338 with mixed cataracts (P =0.04,OR =0.74 and P =0.003,OR =0.60).However,after Bonferroni corrections,WRN-rs11574311 was still associated with cortical and mixed cataracts,as well as WRN-rs2725338 with mixed cataracts.The difference in DNA damage of peripheral lymphocytes with SNP types did not approach statistical significance among groups (all P ＞ 0.05).Conclusion WRN genes may have a vital role in ARC pathogenesis and exert a different action in ARC subtypes,which may be associated with different risk factors and mechanisms.关键词
年龄相关性白内障/DNA修复基因/DNA损伤/单核苷酸多态性/流行病学研究Key words
age-related cataract/DNA repair genes/DNA damage/single nucleotide polymorphism/epidemiology分类
医药卫生引用本文复制引用
苏舒,朱蓉嵘,胡楠,周婧,杨梅,管怀进..DNA修复基因的多态性以及DNA损伤与年龄相关性白内障的关系[J].眼科新进展,2017,37(11):1040-1043,1048,5.基金项目
国家自然科学基金资助(编号:81070718)National Natural Science Foundation of China (No:81070718) （编号:81070718）
