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[中国XRCC2基因多态性与食管鳞状细胞癌和贲门腺癌易感性的关联]

[The association of XRCC2 gene polymorphism with susceptibility to esophageal squamous cell carcinoma and gastric cardiac adenocarcinoma in China].

作者信息

Wang Na, Dong Xiu-juan, Li Yan, Guo Wei, Zhou Rong-miao, Zhang Xiao-juan, Wang Shi-jie

机构信息

Division of Molecular Biology, the Fourth Hospital, Hebei Medical University, Shijiazhuang, Hebei, 050011 PR China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Oct;24(5):538-43.

Abstract

OBJECTIVE

To investigate the possible association of single nucleotide polymorphism (SNP) at the 41657C/T position and 4234G/C position of X-ray repair cross-complementing gene 2 (XRCC2) with susceptibility to esophageal squamous cell carcinoma (ESCC) and gastric cardiac adenocarcinoma (GCA) in a population of high incidence region, Ci county and She county of Hebei.

METHODS

The genotypes of XRCC2 41657C/T and 4234G/C SNPs were detected by polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) analysis in 330 ESCC patients, 254 GCA patients and 629 healthy controls.

RESULTS

The genotype frequency of XRCC2 41657C/T in ESCC patients (67.8%, 26.4% and 5.8%) was significantly different from that in controls (68.8%, 28.8% and 2.4%; chi square was 7.43, P was 0.02). Compared with CC genotype, TT genotype significantly increased the risk of developing ESCC (OR=2.12, 95%CI: 1.03-4.35). The genotype (59.9%, 35.8% and 4.3%) and allelotype distributions ofXRCC2 41657C/T in GCA patients were significantly different from that in controls (chi square was 7.46 and 7.23, P was 0.02 and 0.01). Compared with CC genotype, CT genotype significantly increased the risk of developing GCA (OR=1.38, 95%CI: 1.01-1.89). The genotype and allelotype distributions of the 4234G/C SNPs in ESCC and GCA patients were not significantly different from that in controls (all P values were above 0.05). Compared with GG genotype, the CG and CC genotype of XRCC2 4234G/C did not show significant effect on the risk of developing ESCC and GCA. When the two XRCC2 SNPs were combined analyzed, the haplotype distribution in GCA patients was significantly different from that in controls (chi square was 13.28, P was less than 0.01). Compared with 41657C/4234G haplotype, 41657C/4234C and 41657T/4234G haplotypes significantly increased the risk of developing GCA (OR were 1.44 and 1.55, 95%CI were 1.06-1.95 and 1.18-2.02, respectively).

CONCLUSION

In high incidence region of Hebei province, we conclude that XRCC2 41657C/T polymorphism has a potential to be a susceptibility factor for ESCC and GCA while XRCC2 4234G/C polymorphism may not provide a useful marker to predict susceptibility to ESCC and GCA. However, the 41657C/4234C and 41657T/4234G haplotypes might increase the risk of developing GCA.

摘要

目的

在河北省磁县和涉县这一食管癌和贲门癌高发地区人群中,研究X射线修复交叉互补基因2(XRCC2)41657C/T位点和4234G/C位点的单核苷酸多态性(SNP)与食管鳞状细胞癌(ESCC)及贲门腺癌(GCA)易感性之间的可能关联。

方法

采用聚合酶链反应(PCR)-限制性片段长度多态性(RFLP)分析法,检测330例ESCC患者、254例GCA患者及629例健康对照者XRCC2 41657C/T和4234G/C单核苷酸多态性的基因型。

结果

ESCC患者中XRCC2 41657C/T的基因型频率(67.8%、26.4%和5.8%)与对照组(68.8%、28.8%和2.4%;卡方值为7.43,P值为0.02)有显著差异。与CC基因型相比,TT基因型显著增加ESCC发病风险(OR = 2.12,95%可信区间:1.03 - 4.35)。GCA患者中XRCC2 41657C/T的基因型(59.9%、35.8%和4.3%)及等位基因分布与对照组有显著差异(卡方值分别为7.46和7.23,P值分别为0.02和0.01)。与CC基因型相比,CT基因型显著增加GCA发病风险(OR = 1.38,95%可信区间:1.01 - 1.89)。ESCC和GCA患者中4234G/C单核苷酸多态性的基因型及等位基因分布与对照组无显著差异(所有P值均大于0.05)。与GG基因型相比,XRCC2 4234G/C的CG和CC基因型对ESCC和GCA发病风险无显著影响。当对两个XRCC2单核苷酸多态性进行联合分析时,GCA患者的单倍型分布与对照组有显著差异(卡方值为13.28,P值小于0.01)。与41657C/4234G单倍型相比,41657C/4234C和41657T/4234G单倍型显著增加GCA发病风险(OR分别为1.44和1.55,95%可信区间分别为1.06 - 1.95和1.18 - 2.02)。

结论

在河北省高发地区,我们得出结论,XRCC2 41657C/T多态性可能是ESCC和GCA的一个易感因素,而XRCC2 4234G/C多态性可能无法作为预测ESCC和GCA易感性的有用标志物。然而,41657C/4234C和41657T/4234G单倍型可能会增加GCA的发病风险。

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