作者：洪文光，陈森明，蔡泽华，李泓，陈健松，刘万珍

单位：潮州市人民医院胃肠外科，广东 潮州 521011

Authors: Hong Wenguang, Chen Senming, Cai Zehua, Li Hong, Chen Jiansong, Liu Wanzhen

Unit：Department of Gastrointestinal Surgery, Chaozhou People’s Hospital, Chaozhou 521011, Guangdong, China

摘要：

目的 探索亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase，MTHFR) 基因C677T 位点的多态性与结直肠癌（colorectal cancer，CRC）患病风险之间的关系。方法  选取2022年1月至2023年12月在潮州市人民医院确诊的101例CRC患者为研究组，另选取同期98例健康人员为对照组。采用聚合酶链反应和Sanger测序，检测受试者MTHFR基因C677T位点多态性。对两组受试者的年龄、性别、体重指数、吸烟史、饮酒史、家族史、基因型等进行比较。基于多因素Logistic回归模型计算调整优势比（adjusted odds ratio，AOR）和95%CI，分析CRC患病的风险因素。结果 研究组和对照组MTHFR C677T位点基因型和等位基因分布差异有统计学意义（均P <0.05）。多因素Logistic 回归模型分析结果显示，CC、CT基因型的CRC患病风险较TT基因型高（AOR=4.068, 95% CI 1.672~9.896, P<0.05; AOR=2.866, 95% CI 1.481~5.546, P<0.05），C等位基因纯合子（CC）携带者的CRC患病风险较T等位基因（CT+TT）携带者高（AOR =3.176, 95% CI 1.718~5.870, P<0.05）。结论  MTHFR基因C677T位点CC基因型和C等位基因会增加CRC患病风险。 

关键词： 结直肠癌；亚甲基四氢叶酸还原酶；基因多态性

Abstract：

Objective To investigate the association between the C677T polymorphism of methylenetetrahydrofolate reductase (MTHFR) gene and the risk of colorectal cancer (CRC). Method From January 2022 to December 2023, 101 cases of CRC patients diagnosed in Chaozhou People’s Hospital were selected as the study group, and 98 healthy persons were included as the control group. The MTHFR C677T polymorphism of the subjects was detected by polymerase chain reaction and Sanger sequencing. The differences of the data between the two groups, such as age, gender, body mass index, smoking history, drinking history, family history and genotype were compared. Multifactorial Logistic regression model was used to calculate the adjusted odds ratio (AOR) and 95% CI, and to evaluate the risk factors for CRC. Result  The differences in genotype and allele distribution of the MTHFR C677T locus between the study group and control group were statistically significant (both P<0.05). The results of multifactorial Logistic regression model analysis showed that the risk of CRC incidence was higher in CC and CT genotypes than that in TT genotypes (AOR=4.068, 95% CI 1.672-9.896, P<0.05; AOR=2.866, 95% CI 1.481-5.546, P<0.05), and the risk of CRC incidence in people with C allele homozygote (CC) was higher than that with T allele (CT+TT) (AOR =3.176, 95% CI 1.718-5.870, P<0.05). Conclusion The CC genotype and C allele of the C677T locus of MTHFR gene may increase the risk of CRC incidence.

Key Words:  Colorectal cancer; Methylenetetrahydrofolate reductase; Genetic polymorphism

注：网络优先发布