[Correlation of XPD gene with susceptibility to gastric cancer].

Chuan-Zhen Zhang, Zi-Ping Chen, Chang-Qing Xu, Tao Ning, Dan-Ping Li, Rui-Ping Hou
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引用次数: 16

Abstract

Background and objective: Mutations in DNA repair system are related to carcinogenesis. This study was to evaluate the correlations of polymorphisms and haplotypes of XPD gene with individual susceptibility to gastric cancer.

Methods: Genomic DNA were extracted from peripheral blood leukocytes of 207 gastric cancer patients and 212 healthy controls. Genotypes at codon 312 and codon 751 polymorphic sites were identified by amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) or polymerase chain reaction-restriction fragment length polymorphism (PCR-PFLP), respectively.

Results: At codon 312, the frequency of GA or AA genotype was higher in the gastric cancer patients than in the healthy controls (P<0.01, OR=3.41, 95% CI: 2.06-4.79; P<0.01, OR=3.47, 95% CI: 1.39-8.68). No significant difference was found in the distribution of the polymorphism at codon 751 between the two groups (P>0.05). By the haplotype AA (codon 312A-codon 751A) analysis, the frequency of heterozygote (-/AA) or homozygote (AA/AA) was higher in the patients than in the controls (P<0.01,OR=2.81, 95% CI:1.82-4.34;P=0.02,OR=3.92, 95% CI:1.31-11.70, respectively). Whereas there were no significant differences of the other three haplotypes between the patients and the controls (P>0.05).

Conclusions: The polymorphism of XPD at codon 312 might contribute to the etiology of gastric cancer. The haplotype AA (codon 312A-codon 751A) would be a critical risk factor of the susceptibility to gastric cancer.

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【XPD基因与胃癌易感性的相关性研究】。
背景与目的:DNA修复系统的突变与肿瘤发生有关。本研究旨在探讨XPD基因多态性和单倍型与个体胃癌易感性的相关性。方法:从207例胃癌患者和212例健康对照者的外周血白细胞中提取基因组DNA。采用扩增难解突变系统-聚合酶链反应(ARMS-PCR)和聚合酶链反应-限制性片段长度多态性(PCR-PFLP)分别鉴定密码子312和751多态性位点的基因型。结果:在密码子312处,胃癌患者GA或AA基因型频率高于正常对照组(P0.05)。单倍型AA(密码子312a - 751A)分析显示,患者的杂合子(-/AA)或纯合子(AA/AA)频率均高于对照组(P0.05)。结论:XPD基因312密码子多态性可能与胃癌的发病有关。单倍型AA(密码子312a -密码子751A)可能是胃癌易感性的关键危险因素。
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