Dataset Information

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.

SUBMITTER: Wang C

PROVIDER: S-EPMC4730093 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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Senile cataract and genetic polymorphisms of APE1, XRCC1 and OGG1.

Wang Chen C Lai Qiaohong Q Zhang Shu S Hu Jun J

International journal of clinical and experimental pathology 20151201 12

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 ...[more]

PMID: 26884880

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Project description:ObjectiveThis meta-analysis aimed to determine the relationships between XRCC1 Arg399Gln (rs25487 G>A) and XPD Lys751Gln (rs1052559 A>C) polymorphisms and susceptibility to age-related cataract.MethodsMedline (1966-2013), the Cochrane Library Database (Issue 12, 2013), EMBASE (1980-2013), CINAHL (1982-2013), Web of Science (1945-2013) and the Chinese Biomedical Database (CBM; 1982-2013) were searched without language restrictions. Various combinations of the keywords and MeSH terms were used to screen for potentially relevant studies, specifically "genetic polymorphisms" or "SNPs" or "variation" or "single nucleotide polymorphism" or "polymorphism" or "mutation" or "variant"; "X-ray repair cross complementing protein 1" or "Xeroderma Pigmentosum Group D Protein" or "X-ray repair cross complementing protein 1" or "Xeroderma Pigmentosum Group D Protein" or "XPD" or "Xeroderma Pigmentosum Complementation Group D Protein" or "ERCC2" or "XRCC1" or "XRCC1 DNA repair protein"; and "Cataract" or " Membranous Cataract" or " Pseudoaphakia." Meta-analyses were conducted using Stata 12.0 software. Crude odds ratios (ORs) and their corresponding 95% confidence intervals (95% CI) were calculated.ResultsSix independent case-control studies were included in the meta-analysis. Our results indicated that the association between the genetic polymorphisms of XRCC1 Arg399Gln G>A and XPD Lys751Gln A>C and increased susceptibility to age-related cataracts was statistically significant (XRCC1 Arg399Gln: OR=1.30, 95% CI=1.17-1.44, p<0.001; XPD Lys751Gln: OR=1.25, 95% CI=1.12-1.40, p<0.001, respectively). Ethnicity-stratified analysis indicated that the XRCC1 Arg399Gln G>A polymorphism was correlated with the development and progression of age-related cataract in China, India, and Turkey in the allele model and the dominant model. For the XPD Lys751Gln A>C variant, the association with the pathogenesis of age-related cataract in China and Turkey in the allele model and the dominant model was investigated.ConclusionsThe association of XRCC1 Arg399Gln and XPD Lys751Gln polymorphisms with age-related cataract susceptibility observed in our meta-analyses supports the view that XRCC1 and XPD may play important roles in susceptibility to age-related cataract.

Project description:Delay in seeking medical services is common in elderly populations, which leads to disease progression and life difficulty. This study aims to assess the prevalence of delay in medical visits and treatment and define associated effects and factors in patients with senile cataract, which may help obtain a better understanding of late-life psychopathology and provide the basis for interventions. Patients aged more than 60 years were prospectively recruited in Zhongshan Ophthalmic Center (ZOC). All participants were diagnosed with binocular senile cataract and decided to have primary surgery in ZOC. The distributions of the popularity of delaying outpatient visits and treatment, the degrees of visual impairment, the influences on quality of life, and the reasons for delaying treatment among participants were accessed by the descriptive statistics. Factors associated with the perceptions of cataract treatment were accessed using a binary logistic regression model. A total of 400 senile patients aged from 60 to 94 years were enrolled. At diagnosis, 82 (20.5%) participants had a low vision with monocular acuity of both eyes below 0.05. All participants have felt that their normal lives were affected, and 64 (16%) participants felt that their lives were affected severely. Only 17 (4.25%) participants have sought for medical services immediately after feeling vision loss, and 294 (73.50%) participants have felt vision loss since a year ago before seeking medical help. A total of 298 (74.50%) participants have delayed the surgery time, and 229 (57.25%) patients delayed it for more than 12 months. There were 147 (36.75%) participants delaying surgery on account of no knowledge about it and 114 (28.50%) participants delaying surgery because of fear. There are a high proportion of elderly patients with senile cataract delaying their outpatient visits and surgery treatment, whose normal lives were severely affected. Increasing medical service propaganda about cataract and other common diseases in elderly populations would probably be helpful for improving perceptions of diseases and decreasing medical delays. Public needs to draw more attention to the healthy and medical status of the elderly ocular patients.

Dataset Information

Senile cataract and genetic polymorphisms of APE1, XRCC1 and OGG1.

Publications

Senile cataract and genetic polymorphisms of APE1, XRCC1 and OGG1.

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