重庆地区人群亚甲基四氢叶酸还原酶基因多态性与结直肠癌易感性关系研究

目的 探讨重庆人群亚甲基四氢叶酸还原酶(Methyenetetrahdrofolate reducatase,MTHFR)基因多态性与结直肠癌的关系，研究叶酸、MTHFR基因多态性以及结直肠癌发生的交互作用。方法 ①用聚合酶链反应限制性片段多态性(PCR-RFIP)技术，检测82例结直肠癌患者和82例正常对照的MTHFR基因多态性。②使用放免方法检测病例及对照血浆中的叶酸含量。结果 ①病例组叶酸水平显著低于对照组。②结直肠癌患者与对照MTHFR突变基因型率分别为56．1％和51．3％，无统计学差异。结论 叶酸水平与结直肠癌的发生显著相关，是结直肠癌发病的保护因素。在重庆人群中MTHFR基因多态性可能不是结直肠癌发生的危险因素。

MTHFR polymorphisms and colorectal cancer susceptibility in Chongqing people

Objective To explore the relationship between methylenetetrahydrofolate reductase(MTHFR) polymorphisms and colorectal cancer susceptibility and to observe the interaction of MTHFR polymorphism, folate concentration and colorectal susceptibility Methods Polymerase chain reaction restriction fragment length polymorphism (PCR RFLP) technique was used to analyze the genotype of MTHFR in 82 cases of colorectal cancer and 82 controls Folate levels in sera of the cases and controls were measured by radioimmunoassay(RIA) Results The folate level in the case group was significantly lower than that in the control No significant difference in the frequency of MTHFR variant genotype was found between the cases and the controls(56 1% vs 51 3%) Subjects with low folate level were at a significantly higher risk of developing colorectal cancer Conclusion Folate level is significantly associated with colorectal susceptibility Folate is a colorectal cancer protective factor In this study, MTHFR gene polymorphism might not be related with colorectal cancer