title: Senile cataract and genetic polymorphisms of APE1, XRCC1 and OGG1.
abstract: Polymorphisms of DNA repair enzymes which may influence their repair efficiency lead to diseases, for example, senile cataract. In this study, we aimed to analyze the association of single nucleotide polymorphisms in AP endonuclease-1 (APE1), 8-oxoguanine glycosylase-1 (OGG1) and X-ray repair cross-complementing-1 (XRCC1) genes with the risk of age-related cataract in a Chinese population. Genotyping was carried out by the polymerase chain reaction and DNA sequencing on 402 cataract patients and 813 controls in this study. Differences in the frequencies were estimated by the chi-square test, and risk was estimated using unconditional logistic regression after adjusting for age and gender. Our results demonstrated there was a significant difference between the case and control groups in the APE1-141 G/G genotype (P=0.002). This difference still existed after adjusting for age and gender (P*=0.003). The APE1-141 T/T genotype and T allele frequencies were significantly higher in cataract patients, while the G/G genotype and G allele frequencies in patients were significantly lower than in controls (P < 0.05). The APE1-141 G/G genotype (OR, 0.49; 95% CI, 0.31-0.77) seems to have a protective role against cataract, and the T allele seems to have a deleterious role in the development of cataract. In OGG1 Ser326Cys and XRCC1 Arg399Gln polymorphisms, there were no significant differences in frequencies of the variant homozygous in patients compared with controls.
authors.affiliation: Center for Biomedical Research, Tongji Hospital, Tongji Medical College, Huazhong University of Science and TechnologyWuhan 430030, China; Department of Ophthalmology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and TechnologyWuhan 430030, China.
authors.forename: Chen
authors.initials: C
authors.lastname: Wang
authors.affiliation: Center for Biomedical Research, Tongji Hospital, Tongji Medical College, Huazhong University of Science and TechnologyWuhan 430030, China; Department of Gynecology and Obstetrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and TechnologyWuhan 430030, China.
authors.forename: Qiaohong
authors.initials: Q
authors.lastname: Lai
authors.affiliation: Center for Biomedical Research, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology Wuhan 430030, China.
authors.forename: Shu
authors.initials: S
authors.lastname: Zhang
authors.affiliation: Center for Biomedical Research, Tongji Hospital, Tongji Medical College, Huazhong University of Science and TechnologyWuhan 430030, China; Department of Ophthalmology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and TechnologyWuhan 430030, China.
authors.forename: Jun
authors.initials: J
authors.lastname: Hu
mesh_terms: D000367:Age Factors; D000368:Aged; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D016022:Case-Control Studies; D002386:Cataract / Q000175:diagnosis / Q000201:enzymology / Q000208:ethnology / Q000235:genetics*; D016009:Chi-Square Distribution; D002681:China; D045647:DNA Glycosylases / Q000235:genetics*; D043603:DNA-(Apurinic or Apyrimidinic Site) Lyase / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010641:Phenotype; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D065840:Protective Factors; D012307:Risk Factors; D000076105:X-ray Repair Cross Complementing Protein 1
chemical_list: D004268:DNA-Binding Proteins; D005819:Genetic Markers; D000076105:X-ray Repair Cross Complementing Protein 1; C000619371:XRCC1 protein, human; D045647:DNA Glycosylases; C479058:oxoguanine glycosylase 1, human; C085108:APEX1 protein, human; D043603:DNA-(Apurinic or Apyrimidinic Site) Lyase
keywords: APE1 gene; Genetic polymorphisms; OGG1 gene; XRCC1 gene; senile cataract