XRCC1基因第399位密码子精氨酸突变为谷氨酰胺多态性与阿根廷女性宫颈癌发生风险
XRCC1 Arg399Gln polymorphism and risk for cervical cancer development in Argentine women.
作者信息
Barbisan G, Pérez L O, Difranza L, Fernández C J, Ciancio N E, Golijow C D
机构信息
IGEVET (Institute of Veterinary Genetics "Ingeniero Fernando Noel Dulout") Faculty of Veterinary Science, National University of La Plata, Buenos Aires, Argentina.
出版信息
Eur J Gynaecol Oncol. 2011;32(3):274-9.
BACKGROUND
XRCC1 (X-ray repair cross-complementing group 1) plays a central role in the DNA base excision repair mechanism. Single nucleotide polymorphisms (SNPs) in the XRCC1 gene are thought to modulate DNA repair capacity and have been linked to cancer risk in several studies.
MATERIALS AND METHODS
We conducted a case-control study comprising 217 cervical samples, including 103 cervical carcinomas and 114 normal tissue samples. Cervical samples were genotyped for two XRCC1 SNPs (Arg194Trp and Arg399Gln) by PCR-RFLPs.
RESULTS
Subjects carrying heterozygous Arg399Gln or the combined Gln399Gln + Arg399Gln variant genotypes had a significantly reduced risk for cervical cancer development. In addition, the 194Arg-399Gln haplotype was also found to be associated with a decreased risk for cervical carcinoma.
CONCLUSION
Our findings suggest that XRCC1 genotypes and haplotypes contribute in reducing the risk for cervical cancer development. Furthermore, genetic susceptibility conferred by Arg399Gln polymorphism operates independently of human papillomavirus infection of cervical tissue.
背景
XRCC1（X射线修复交叉互补基因1）在DNA碱基切除修复机制中起核心作用。XRCC1基因中的单核苷酸多态性（SNP）被认为可调节DNA修复能力，并且在多项研究中已与癌症风险相关联。
材料与方法
我们开展了一项病例对照研究，纳入217份宫颈样本，包括103份宫颈癌样本和114份正常组织样本。通过聚合酶链反应-限制性片段长度多态性方法（PCR-RFLPs）对宫颈样本的两个XRCC1 SNP（Arg194Trp和Arg399Gln）进行基因分型。
结果
携带杂合型Arg399Gln或组合型Gln399Gln + Arg399Gln变异基因型的受试者患宫颈癌的风险显著降低。此外，还发现194Arg-399Gln单倍型也与宫颈癌风险降低相关。
结论
我们的研究结果表明，XRCC1基因型和单倍型有助于降低宫颈癌发生风险。此外，由Arg399Gln多态性赋予的遗传易感性独立于宫颈组织的人乳头瘤病毒感染起作用。
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