Single nucleotide polymorphisms in DNA repair genes and the association of DNA damage with age-related cataract
10.13389/j.cnki.rao.2017.0263
- VernacularTitle: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
- Author:
Shu SU
1
;
Rong Rong ZHU
;
Nan HU
;
Jing ZHOU
;
Mei YANG
;
Jin Huai GUAN
Author Information
1. 南通大学附属医院眼科
- Keywords:
age-related cataract;
DNA repair genes;
DNA damage;
single nucleotide polymorphism;
epidemiology
- From:
Recent Advances in Ophthalmology
2017;37(11):1040-1043,1048
- CountryChina
- Language:Chinese
-
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.
