MTHFD1基因多态性与大肠癌遗传易感性的研究

Research of MTHFD1 gene polymorphism with genetic susceptibility to colorectal cancer

目的探讨MTHFD1基因多态性与大肠癌遗传易感性的相关性。方法对96例大肠癌患者及96例健康体检者采取问卷调查表的形式，选用聚合酶链反应一限制性片段长度多态性（PCR—RFLP）检测的方法。结果大肠癌患者中MTHFD1基因多态性G1958A位点rs2236225等位基因的频率与健康对照组比较有显著性差异（P〈0．05）；rs2236225基因型者大肠癌的发病风险增加1．6倍（OR=1．603，95％CI：0．331～2．534，P〈0．05）。结论MTHFD1基因多态性密切相关于大肠癌的易感性，MTHFD1多态性G1958A位点rs2236225基因改变是大肠癌的主要发病原因。

Objective To explore the correlation of MTHFD1 gene polymorphism with genetic susceptibility to colorectal cancer. Methods Ninety-six cases of colorectal cancer patients and 96 cases of healthy controls were investigated by questionnaire, the polymerase chain reaction - restriction fragment length polymorphism （PCR-RFLP） detection method was applied. Results Compared with normal control group, MTHFD1 G1958A polymorphism rs2236225 locus allele frequencies of patients with colorectal cancer had significant difference（P 〈0.05）; rs2236225 genotype risk of colorectal cancer increased 1.6 times（OR=1.603, 95%CI=0.331-2.534, P〈0.05）. Conclusion MTHFD1 gene polymorphism is closely related to the susceptibility of coloreetal cancer, the main course of eolorectal cancer is the rs2236225 gen changes in G1958A site of MTHFD1.