Krupa R, Blasiak J
Dept of Molecular Genetics, University of Lodz, Lodz, Poland.
J Exp Clin Cancer Res. 2004 Jun;23(2):285-94.
Variability in DNA repair genes may contribute to human cancer risk. We performed a case-control study (51 cases and 100 controls) to test the association between two polymorphisms: Arg399Gln in the XRCC1 gene and Thr241Met in the XRCC3 gene and colorectal cancer risk. Genotypes were determined in tumour tissue and distant mucosa samples by PCR RFLP with the NciI restriction enzyme for XRCC1 and NcoI for XRCC3. Cancer occurrence was strongly associated with the XRCC3 Met/Met polymorphic variant (OR = 9.45; (95% CI 8.77-11.65)), whereas Thr/Thr and Thr/Met variants were associated with significant reduction in colorectal cancer risk (OR = 0.16; 95% CI 0-0.26 and OR = 0.26; 95% CI 0.25-0.27, respectively). Weak association was found between the XRCC1 Arg/Arg and Gln/Gln variants and the risk of colorectal cancer (OR = 1.28; 95% CI 1.00-1.84 and OR = 1.13; 95% CI 0.85-2.34, respectively). Gene-gene interaction between the XRCC1 Arg/Arg and XRCC3 Met/Met homozygous variants slightly increased the risk (OR = 10.50; 95% CI 5.67-14.79). Both polymorphisms were not associated with colorectal cancer progression.
DNA修复基因的变异性可能会增加人类患癌风险。我们开展了一项病例对照研究（51例病例和100例对照），以检测两种多态性之间的关联：XRCC1基因中的Arg399Gln和XRCC3基因中的Thr241Met与结直肠癌风险。通过使用针对XRCC1的NciI限制性内切酶和针对XRCC3的NcoI的PCR-RFLP技术，在肿瘤组织和远端黏膜样本中确定基因型。癌症的发生与XRCC3 Met/Met多态性变体密切相关（比值比=9.45；95%置信区间8.77-11.65），而Thr/Thr和Thr/Met变体与结直肠癌风险的显著降低相关（比值比分别为0.16；95%置信区间0-0.26和0.26；95%置信区间0.25-0.27）。在XRCC1 Arg/Arg和Gln/Gln变体与结直肠癌风险之间发现了微弱关联（比值比分别为1.28；95%置信区间1.00-1.84和1.13；95%置信区间0.85-2.34）。XRCC1 Arg/Arg和XRCC3 Met/Met纯合变体之间的基因-基因相互作用略微增加了风险（比值比=10.50；95%置信区间5.67-14.79）。两种多态性均与结直肠癌进展无关。
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