Genetic Polymorphisms in DNA Repair Genes OGG1, APE1, XRCC1, and XPD and the Risk of Age-Related Cataract

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• 作者：Yi Zhang ; MD¹ ; Lan Zhang ; MD² ; Zhen Song ; MD¹ ; Dong Lin Sun ; MD³ ; Han Ruo Liu ; MD¹ ; Song Bin Fu ; MD³ ; Dong Rui Liu ; MS¹ ; Ping Liu ; MD¹ ; ^{Ping_Liu53@hotmail.com}
• 刊名：Ophthalmology
• 出版年：2012
• 期刊代码：211_01616420
• 类别：med
• 出版时间：May, 2012
• 卷：119
• 期：5
• 页码：900-906
• 文件大小：367 K

摘要

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Purpose

To analyze the association of the polymorphisms in 8-oxoguanine glycosylase-1 (OGG1), X-ray repair cross-complementing-1 (XRCC1), and AP endonuclease-1 (APE1) genes in the base excision repair pathway and xeroderma pigmentosum complementation group D (XPD) in the nucleotide excision repair pathway with the risk of cataract in a Chinese population.

Design

Case-control study.

Participants

Subjects with cataract (n = 415) or no cataract (n = 386) in the Age Related Eye Disease Ancillary Study.

Methods

The study included 415 cataract patients and 386 controls. Genotyping was carried out by the polymerase chain reaction-restriction fragment length polymorphism method. Differences in the frequencies were estimated by the chi-square test, and risk was estimated by using unconditional logistic regression after adjusting for age and gender.

Main Outcome Measures

Association of single nucleotide polymorphisms in OGG1-Ser326Cys with the development of age-related cataract.

Results

The OGG1 Cys/Cys genotype frequency was significantly higher in cataract patients (P = 0.014; odds ratio [OR], 2.06; 95%confidence interval [CI], 1.171-3.624). The OGG1 Ser/Ser genotype (P = 0.003; OR, 0.647; 95%CI, 0.487-0.860) seems to have a protective role against cataract, and the Cys allele (P<0.001; OR, 1.517; 95%CI, 1.204-1.911) seems to have a deleterious role in the development of cataract. The genotype frequency of the Ser/Ser of OGG1-Ser326Cys was significantly different in the cortical and mixed-type cataract group (P = 0.014; OR, 0.591; 95%CI, 0.391-0.893; and P = 0.035; OR, 0.639; 95%CI, 0.425-0.960; respectively), and the Cys/Cys genotype of OGG1-Ser326Cys was significantly different in the mixed-type cataract group (P = 0.012; OR, 2.610; 95%CI, 1.284-5.306) compared with that of healthy controls. In XRCC1-Arg399Gln, APE1-Asp148Glu, and XPD-Lys751Gln polymorphisms, there were no significant differences in frequencies of the variant homozygous in patients compared with controls.

Conclusions

Results suggest that the Cys/Cys genotype of the OGG1-Ser326Cys polymorphism may be associated with increased risk of age-related cataract. However, in XRCC1-Arg399Gln, APE1-Asp148Glu, and XPD-Lys751Gln polymorphisms, there were no significant differences in frequencies of the variant homozygous in patients compared with controls.

Financial Disclosure(s)

The author(s) have no proprietary or commercial interest in any materials discussed in this article.