姜迪，张慧杰，张淑兰

·综述·

亚甲基四氢叶酸还原酶基因多态性与宫颈癌的关系

姜迪，张慧杰，张淑兰△

宫颈癌是女性最常见的恶性肿瘤之一，其发生是环境致癌因素与遗传因素共同作用的结果。目前研究表明，亚甲基四氢叶酸还原酶（MTHFR）基因多态性与宫颈癌的发生密切相关，其降低了叶酸代谢酶的活性，影响细胞内正常DNA的合成及甲基化，以及通过与环境因素例如叶酸水平、人乳头瘤病毒（HPV）感染、饮酒、吸烟及原癌基因的交互作用，从而改变个体对宫颈癌的易感性，并且在不同国家、不同种族分布存在显著差异。同时，MTHFR基因多态性表达与肿瘤预后有关，可能改变化疗的敏感度和化疗药物的毒性，但其与宫颈癌预后的关系尚未明确。现就MTHFR基因多态性与宫颈癌的易感性、流行病学调查及预后评估等方面的关系进行综述。

四氢叶酸脱氢酶；多态现象，遗传；宫颈肿瘤；疾病易感性

【Abstract】Cervical cancer is one of the most common female malignancies，resulted from both environmental factors and genetic variants.Recent research revealed that polymorphisms of MTHFR may have a correlation with increased cervical cancer susceptibility.A proposed mechanism for the role of MTHFR polymorphisms in carcinogenesis involves down-regulation of folate enzyme activities and interaction with the other factors such as folate level，human papillomaviruses infection，alcohol，smoking and the interaction of the proto-oncogene，which leaded to the abnormal patterns of DNA synthesis and methylation，influenced the individual susceptibility to cervical cancer，and played a completely different role in different countries and ethnic groups.MTHFR polymorphisms may also have a relationship with tumor prognosis by affecting the susceptibility to the chemotherapy and drug toxicity，however，whether it was associated with cervical cancer prognosis remained uncertain.This review concluded the relationship between MTHFR polymorphisms and cervical cancer in host susceptibility，epidemiology and prognosis as followed.

【Keywords】Tetrahydrofolate dehydrogenase；Polymorphism，genetic；Uterine cervical neoplasms；Disease susceptibility

（J Int Obstet Gynecol，2015，42：83-86）

宫颈癌是女性最常见的生殖道恶性肿瘤，人乳头瘤病毒（HPV）感染是宫颈癌发生的主要原因，同时宿主因素也起着重要作用，即不同的群体和个体对宫颈癌的易感性存在差异。近年来，肿瘤相关基因多态性的研究颇受关注，亚甲基四氢叶酸还原酶（methylenetetrahydrofolate reductase，MTHFR）是叶酸代谢的关键酶，其在宫颈癌发生及发展中的作用日益受到关注。大量研究表明，MTHFR基因突变与宫颈癌的发生、发展及预后关系密切，但其具体作用存在较大的种族、地域分布差异，各地报道结论不一。

1　MTHFR基因多态性

1.1MTHFR基……