Department of Neurosurgery, First Affiliated Hospital of Harbin Medical University, Harbin 150001, People's Republic of China.
Gene. 2012 Nov 10;509(2):223-7. doi: 10.1016/j.gene.2012.08.023. Epub 2012 Aug 23.
Several single nucleotide polymorphisms (SNPs) in the X-ray cross-complementing group 1 (XRCC1) gene have been shown to influence DNA repair and to modify cancer susceptibility. To investigate the role of these loci further, we examined the association of three XRCC1 polymorphisms with the risk of gliomas in a Han population in northeastern China.
Using a PCR-RFLP method, XRCC1 Arg194Trp, Arg280His and Arg399Gln were genotyped in 624 glioma patients and 580 healthy controls.
Significant differences in the distribution of the Arg399Gln allele were detected between glioma patients and healthy controls by a logistic regression analysis (OR=1.35, 95%CI 1.17-1.68, P=0.001). Our data also revealed that the Arg399Gln variant (allele A) carriers had an increased glioma risk compared to the wild-type (allele G) homozygous carriers (OR=1.40, 95%CI 1.12-1.76, P=0.003).
These results suggest that the XRCC1 Arg399Gln might influence the risk of developing glioma in a Han population in northeastern Chinese.
X 射线修复交叉互补基因 1（XRCC1）基因中的几个单核苷酸多态性（SNP）已被证明会影响 DNA 修复，并改变癌症易感性。为了进一步研究这些基因座的作用，我们在中国东北地区的汉族人群中研究了三个 XRCC1 多态性与神经胶质瘤风险的关系。
采用 PCR-RFLP 方法，对 624 例胶质瘤患者和 580 例健康对照者的 XRCC1 Arg194Trp、Arg280His 和 Arg399Gln 进行了基因分型。
通过 logistic 回归分析，发现胶质瘤患者和健康对照组之间 Arg399Gln 等位基因的分布存在显著差异（OR=1.35，95%CI 1.17-1.68，P=0.001）。我们的数据还表明，与野生型（等位基因 G）纯合子携带者相比，Arg399Gln 变体（等位基因 A）携带者的胶质瘤风险增加（OR=1.40，95%CI 1.12-1.76，P=0.003）。
这些结果提示 XRCC1 Arg399Gln 可能会影响中国东北地区汉族人群发生胶质瘤的风险。
