Related Experiment Video
Updated: Apr 28, 2026

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
Published on: July 14, 2016
Association between DNA repair genes (XPD and XRCC1) polymorphisms and susceptibility to age-related cataract (ARC):
Lie-rui Zheng1, Jian-jun Ma, Dang-xia Zhou
1Medical College, Northwest University for Nationalities, Lanzhou, 730030, China, zheng730030@qq.com.
Background:
DNA repair gene (XPD and XRCC1) polymorphisms have been considered as risk factors for the development of age-related cataract (ARC). To confirm the association between DNA repair gene (XPD and XRCC1) polymorphisms and the risk of ARC, a meta-analysis was conducted.
Methods:
A search was made of published literature from Institute for Scientific Information (ISI) Web of Knowledge, PubMed, Google Scholar, China National Knowledge Infrastructure (CNKI), and Wanfang Data. In addition, all studies evaluating the association between DNA repair genes (XPD and XRCC1) polymorphisms and the risk for ARC were included in our analysis. Pooled odds ratio (OR) and 95 % confidence interval (CI) were calculated by using fixed- or random-effects model. The Egger's test was used to check the publication bias.
Results:
Six studies on XRCC1 Arg399Gln (1,300 cases, 1,222 controls) and five studies on XPD Lys751Gln (1,092 cases, 1,061 controls) were included. For the XPD Lys751Gln (A/C) SNP, the overall analysis demonstrated that the CC genotype showed a significant association with a decreased risk for ARC compared with the AA genotype (OR = 0.59, 95 % CI, 0.38-0.92, P = 0.019). Similarly, the CC genotype showed a significant association with a decreased risk for ARC compared with the (AA + AC) genotype (OR = 0.65, 95 % CI, 0.43-0.98, P = 0.040). Subgroup analysis showed that the association between the CC genotype and decreased risk for ARC is statistically significant in Caucasians (OR = 0.41, 95 % CI, 0.24-0.73, P = 0.002) but not in Asians (OR = 1.06, 95 % CI, 0.51-2.19, P = 0.877). For the XRCC1 Arg399Gln (G/A) SNP, the overall analysis demonstrated that the A allele showed a significant association with an increased risk for ARC compared with the G allele (OR = 1.16, 95 % CI, 1.03-1.31, P = 0.015). Subgroup analyses exhibited that the association between the A allele and the risk for ARC was statistically significant in Asians (OR = 1.23, 95 % CI, 1.07-1.41, P = 0.003) but not in Caucasians (OR = 0.94, 95 % CI, 0.73-1.22, P = 0.660). Compared with the GG genotype, the GA genotype showed a significant association with an increased risk for ARC in Asians (OR = 1.32, 95 % CI, 1.08-1.61, P = 0.006) but not in Caucasians (OR = 0.58, 95 % CI, 0.27-1.26, P = 0.171). The Egger's test did not reveal an obvious publication bias among the included studies.
Conclusions:
Our meta-analysis suggested that the CC genotype of XPD Lys751Gln (A/C) SNP seemed to portend a decreased risk for ARC in Caucasian populations but not in Asian populations. The A allele and GA genotype of XRCC1 Arg399Gln (G/A) SNP might increase risk for ARC in Asian populations but not in Caucasian populations. More researches with larger and more different ethnic populations on this issue are therefore necessary.
Related Concept Videos
Nucleotide Excision Repair
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...
Nucleotide Excision Repair
Nucleotide Excision Repair
Long-patch Base Excision Repair
Overview of DNA Repair
Chemically...
Overview of DNA Repair

