Department of Colorectal Surgery, Cancer Hospital, Fudan University, 270 Dong An Road, Shanghai 200032, China.
Int J Colorectal Dis. 2010 Feb;25(2):169-80. doi: 10.1007/s00384-009-0817-9. Epub 2009 Nov 14.
Studies on polymorphism of X-ray repair cross-complementing group 1 (XRCC1), group 3 (XRCC3), and colorectal cancer risk are inconclusive. The purpose of this study is to evaluate the role of XRCC1 R399Q, R194W, and XRCC3 T241M genotypes in colorectal cancer susceptibility.
We performed a meta-analysis on all available studies that provided 3,514/4,686 cases/controls for R399Q, 2,767/3,907 cases/controls for R194W and 3,183/3,926 cases/controls for T241M.
Overall, no apparent effects of 194 W allele compared to 194R on colorectal cancer risk were found in all subjects and subgroups (Asians and Caucasians). Insignificant effects were also found under other genetic contrasts (homologous contrast, dominant model, and recessive model). The same pattern of results was produced in T241M polymorphism. The 399Q allele compared to 399R showed no significant association with colorectal cancer risk in all subjects and subgroups. However, protective effects of 399QQ genotype were observed under recessive model (QQ/QR + RR) [P = 0.02, OR = 0.84, 95% CI (0.72, 0.97)] and homozygote contrast (QQ/RR) [P = 0.01, OR = 0.81; 95% CI (0.69, 0.95)] in all subjects.
Results suggested that 399Q allele might act as a recessive allele in its association with colorectal cancer.
关于 X 射线修复交叉互补基因 1（XRCC1）、3（XRCC3）多态性与结直肠癌风险的研究尚无定论。本研究旨在评估 XRCC1 R399Q、R194W 和 XRCC3 T241M 基因型在结直肠癌易感性中的作用。
我们对所有提供了 3514/4686 例病例/对照用于 R399Q、2767/3907 例病例/对照用于 R194W 和 3183/3926 例病例/对照用于 T241M 的研究进行了荟萃分析。
总体而言，194W 等位基因与结直肠癌风险之间无明显相关性（所有受试者和亚组）。在其他遗传对比（同源对比、显性模型和隐性模型）中也发现了无显著性影响。在 T241M 多态性中也产生了相同的结果模式。与 399R 相比，399Q 等位基因与结直肠癌风险无明显相关性（所有受试者和亚组）。然而，在隐性模型（QQ/QR + RR）下观察到 399QQ 基因型的保护作用[P=0.02，OR=0.84，95%CI（0.72，0.97）]和同型合子对比（QQ/RR）[P=0.01，OR=0.81；95%CI（0.69，0.95）]。
结果表明，399Q 等位基因可能在与结直肠癌的关联中作为隐性等位基因发挥作用。
