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DNA修复基因(XPD和XRCC1)多态性与年龄相关性白内障(ARC)易感性之间的关联:一项荟萃分析。

Association between DNA repair genes (XPD and XRCC1) polymorphisms and susceptibility to age-related cataract (ARC): a meta-analysis.

作者信息

Zheng Lie-rui, Ma Jian-jun, Zhou Dang-xia, An Li-feng, Zhang Ya-qing

机构信息

Medical College, Northwest University for Nationalities, Lanzhou, 730030, China,

出版信息

Graefes Arch Clin Exp Ophthalmol. 2014 Aug;252(8):1259-66. doi: 10.1007/s00417-014-2679-2. Epub 2014 Jun 7.

Abstract

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.

摘要

背景

DNA修复基因(XPD和XRCC1)多态性被认为是年龄相关性白内障(ARC)发生的危险因素。为了证实DNA修复基因(XPD和XRCC1)多态性与ARC风险之间的关联,进行了一项荟萃分析。

方法

检索了科学信息研究所(ISI)的Web of Knowledge、PubMed、谷歌学术、中国知网(CNKI)和万方数据中已发表的文献。此外,所有评估DNA修复基因(XPD和XRCC1)多态性与ARC风险之间关联的研究均纳入我们的分析。采用固定效应或随机效应模型计算合并比值比(OR)和95%置信区间(CI)。使用Egger检验来检查发表偏倚。

结果

纳入了6项关于XRCC1 Arg399Gln的研究(1300例病例,1222例对照)和5项关于XPD Lys751Gln的研究(1092例病例,1061例对照)。对于XPD Lys751Gln(A/C)单核苷酸多态性(SNP),总体分析表明,与AA基因型相比,CC基因型与ARC风险降低显著相关(OR = 0.59,95% CI,0.38 - 0.92,P = 0.019)。同样,与(AA + AC)基因型相比,CC基因型与ARC风险降低显著相关(OR = 0.65,95% CI,0.43 - 0.98,P = 0.04)。亚组分析显示,CC基因型与ARC风险降低之间的关联在白种人中具有统计学意义(OR = 0.41,95% CI,0.24 - 0.73,P = 0.002),而在亚洲人中无统计学意义(OR = 1.06,95% CI,0.51 - 2.19,P = 0.877)。对于XRCC1 Arg399Gln(G/A)SNP,总体分析表明,与G等位基因相比,A等位基因与ARC风险增加显著相关(OR = 1.16,95% CI,1.03 - 1.31,P = 0.015)。亚组分析表明,A等位基因与ARC风险之间的关联在亚洲人中具有统计学意义(OR = 1.23,95% CI,1.07 - 1.41,P = 0.003),而在白种人中无统计学意义(OR = 0.94,95% CI,0.73 - 1.22,P = 0.66)。与GG基因型相比,GA基因型在亚洲人中与ARC风险增加显著相关(OR = 1.32,95% CI,则1.08 - 1.61,P = 0.006),而在白种人中无统计学意义(OR = 0.58,95% CI,0.27 - 1.26,P = 0.171)。Egger检验未显示纳入研究中存在明显的发表偏倚。

结论

我们的荟萃分析表明,XPD Lys751Gln(A/C)SNP的CC基因型似乎预示着白种人群中ARC风险降低,而在亚洲人群中并非如此。XRCC1 Arg399Gln(G/A)SNP的A等位基因和GA基因型可能会增加亚洲人群中ARC的风险,而在白种人群中并非如此。因此,有必要针对此问题开展更多涉及更大规模和更多不同种族人群的研究。

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