Susceptibility of XRCC3, XPD, and XPG Genetic Variants to Cervical Carcinoma
Susceptibility of XRCC3, XPD, and XPG Genetic Variants to Cervical Carcinoma
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DOI：
10.1159/000164220
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发表时间：
2008-01-01
期刊：
影响因子：
5
通讯作者：
Chen, Huaizeng
中科院分区：
文献类型：
--
作者：
He, Xiaohong;Ye, Feng;Chen, Huaizeng
目的：DNA修复基因在维持基因组的稳定性和完整性中起着关键作用。DNA修复基因多态性，如XRCC3和着色性干皮病，互补组D和G（XPD，XPG），有助于致癌。本研究旨在探讨XRCC3、XPD、XPG基因变异与宫颈癌发生的相关性。方法：对400例宫颈癌、200例宫颈上皮内瘤样病变（CIN）及200例正常妇女进行病例对照研究。采用错配扩增聚合酶链反应对4种单核苷酸多态性（XRCC3 Thr241Met、XPG His1104Asp、XPD Asp312Asn和XPD Lys751Gln）进行基因分型。结果如下：与His1104Asp或His1104His基因型相比，携带Asp1104Asp纯合子基因型的妇女患宫颈癌或宫颈鳞状细胞癌的风险显著降低。同样，XPD Asn312Asn（AA）降低了宫颈或宫颈鳞状细胞癌的风险。未发现XRCC 3 Thr 241 Met和XPD Lys751 Gln与宫颈癌的发生有关联，4个SNP均未影响CIN的发生。结论：我们的研究结果支持了DNA修复基因的遗传变异可能导致宫颈癌遗传易感性的假设。版权所有（C）2008 S. Karger AG，巴塞尔
Objective: DNA repair genes play a key role in maintaining genomic stability and integrity. DNA repair gene polymorphisms, such as those of XRCC3 and xeroderma pigmentosum, complementation group D and G (XPD, XPG), contribute to carcinogenesis. In this study, we investigated the correlation between cervical carcinoma risk and XRCC3, XPD, XPG genetic variants. Methods: A case-control study of 400 cases including 200 carcinoma, 200 cervical intraepithelial neoplasia (CIN) and 200 normal women was performed. Four single nucleotide polymorphisms (SNPs) (XRCC3 Thr241Met, XPG His1104Asp, XPD Asp312Asn, and XPD Lys751Gln) were genotyped by mismatch amplification polymerase chain reaction. Results: Women carrying homozygous Asp1104Asp genotypes had a significantly decreased risk of cervical or cervical squamous cell carcinoma compared to His1104Asp or His1104His genotypes. Similarly, XPD Asn312Asn (AA) reduced the risk of cervical or cervical squamous cell carcinoma. No association of XRCC3 Thr241Met or XPD Lys751Gln and cervical carcinoma was found. None of the 4 SNPs influenced the risk of CIN in our study. Conclusion: Our results support the hypothesis that genetic variations in DNA repair genes may contribute to an inherited genetic susceptibility to cervical carcinoma. Copyright (C) 2008 S. Karger AG, Basel