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DNA 修复基因多态性与中国人群脑胶质瘤易感性的关系。

Polymorphisms in DNA repair genes and susceptibility to glioma in a chinese population.

机构信息

Department of Neurosurgery, Shengjing Affiliated Hospital of China Medical University, Shenyang 110004, China.

出版信息

Int J Mol Sci. 2013 Feb 5;14(2):3314-24. doi: 10.3390/ijms14023314.

Abstract

The excision repair cross-complementing rodent repair deficiency complementation group 1 (ERCC1), and X-ray repair cross-complementing group 1 (XRCC1) genes appear to protect mammalian cells from the harmful effects of ionizing radiation. We conducted a large case-control study to investigate the association of polymorphisms in ERCC1 C118T, ERCC1 C8092A, XRCC1 A194T, XRCC1 A194T, and XRCC3 C241T, with glioma risk in a Chinese population. Five single nucleotide polymorphisms (SNPs) were genotyped, using the MassARRAY IPLEX platform, in 443 glioma cases and 443 controls. Association analyses based on an χ2 test and binary logistic regression were performed to determine the odds ratio (OR) and a 95% confidence interval (95% CI) for each SNP. For XRCC1 Arg194Trp, the variant genotype T/T was strongly associated with a lower risk of glioma cancer when compared with the wild type C/C (OR = 2.45, 95% CI = 1.43-4.45). Individuals carrying the XRCC1 399A allele had an increased risk of glioma (OR = 1.33, 95% CI = 1.02-1.64). The XRCC3 241T/T genotype was associated with a strong increased glioma risk (OR = 3.78, 95% CI = 1.86-9.06). Further analysis of the interactions of two susceptibility-associated SNPs, XRCC1 Arg194Trp and XRCC3 Thr241Met, showed that the combination of the XRCC1 194T and XRCC3 241T alleles brought a large increase in glioma risk (OR = 2.75, 95% CI = 1.54-4.04). XRCC1 Arg194Trp, XRCC1 Arg399Gln, and XRCC3 C241T, appear to be associated with susceptibility to glioma in a Chinese population.

摘要

切除修复交叉互补基因 1(ERCC1)和 X 射线修复交叉互补基因 1(XRCC1)似乎可以保护哺乳动物细胞免受电离辐射的有害影响。我们进行了一项大型病例对照研究,以调查中国人群中 ERCC1 C118T、ERCC1 C8092A、XRCC1 A194T、XRCC1 A194T 和 XRCC3 C241T 多态性与胶质瘤风险的关联。使用 MassARRAY IPLEX 平台对 443 例胶质瘤病例和 443 例对照进行了 5 个单核苷酸多态性(SNP)的基因分型。基于 χ2 检验和二项逻辑回归进行关联分析,以确定每个 SNP 的比值比(OR)和 95%置信区间(95%CI)。对于 XRCC1 Arg194Trp,与野生型 C/C 相比,变体基因型 T/T 与较低的胶质瘤癌症风险强烈相关(OR=2.45,95%CI=1.43-4.45)。携带 XRCC1 399A 等位基因的个体患胶质瘤的风险增加(OR=1.33,95%CI=1.02-1.64)。XRCC3 241T/T 基因型与强烈增加的胶质瘤风险相关(OR=3.78,95%CI=1.86-9.06)。对两个易感性相关 SNP,XRCC1 Arg194Trp 和 XRCC3 Thr241Met 的相互作用的进一步分析表明,XRCC1 194T 和 XRCC3 241T 等位基因的组合使胶质瘤风险大大增加(OR=2.75,95%CI=1.54-4.04)。XRCC1 Arg194Trp、XRCC1 Arg399Gln 和 XRCC3 C241T 似乎与中国人群中胶质瘤的易感性有关。

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