目的:探讨亚甲基四氢还原酶基因(MTHFR)第7外显子区单核苷酸多态(single nucleotide polymorphism,SNP)位点A1298C(rs1801131)与中国南方人群肠癌发生的相关性.方法:应用基质辅助激光解吸电离飞行时间(MALDI-TOF)质谱检测224例肠癌和224例对照MTHFR基因多态位点rs1801131的基因型.结果:MTHFR rs1801131多态位点AA、AC、CC三种基因型在肠癌的频率为63.4%、32.6%和4.0%,与对照组(68.8%,29.9%和3%)相比差异不显著(P=0.12);但男性人群中病例组和正常组的基因型差异接近显著(P=0.05),携带CC基因型男性个体的肠癌发病风险显著增加(OR=8.38,95%CI:1.01-69.64);相对于直肠癌,结肠癌与正常对照的基因型频率差别更大,P值分别为0.84和0.08;且男性结肠癌患者基因型分布和对照差异显著(P=0.01).结论:MTHFR基因第7外显子区rs1801131位点的单核苷酸多态性可能与中国南方人群结肠癌的遗传易感性相关,而与直肠癌无关,特别是在男性人群中rs1801131 CC和CA基因型可能增加个体患结肠癌的风险.%Objective: To evaluate the polymorphism in methylenetetrahydrofolate reductase ( MTHFR ) A1298C ( rsl801131 ) in relation to the risk of colorectal cancer ( CRC ) in a population - based case - control study in South China. Methods: MTHFR rsl801131 was genotyped including 224 patients with CRC and 224 controls by MALDI -TOF. The associations with the susceptibility of colorectal cancer and rsl801131 were analyzed. Results: The frequencies of genotypes AA, AC and CC of SNP rsl801131 were 63.4%, 32.6% and4.0% in CRC, which were different from that in controls ( 68. 8% , 29. 9% and 3% ). The near significant relation was observed betweenrsl801131 and colorectal cancer among males other than females. Individuals who had rsl801131 CC genotype were at an increased risk of developing colorectal cancer ( OR =8.38, 95% CI: 1.01 - 69. 64 ) compared with AA genotype. And the genotypes frequency of colon cancer with control had a more difference than rectum cancer ( P = 0.08 and 0.84, respectively ),especially among males ( P =0. 01 ). Conclusion: MTHFR rs1801131 polymorphism has a potential to be a susceptibility factor for colon cancer in Chinese Southern population other than rectum cancer, while rsl801131 CC and CA genotypes increase the risk for rectum cancer especially among males.
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