亚甲基四氢叶酸还原酶基因多态与喉鳞状细胞癌风险关联

目的 研究亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase,MTHFR)基因单核苷酸多态与喉鳞状细胞癌(简称鳞癌)发病风险的关系.方法 以聚合酶链式反应和限制性片段长度多态性(polymerase chain reaction-restriction fragment length polymorphisms,PCR-RFLP)的分析方法,检测207例喉鳞癌患者和400名配对的健康人对照者MTHFR基因677C>T和1298 A>C基因型,并比较不同基因型与喉鳞癌发病风险的关系,以及基因与环境的交互作用.结果 与携带MTHFR 677CC基因型者比较,携带MTHFR 677CT和TT基因型者罹患喉鳞癌的风险分别是健康的1.66倍(95%CI 1.08～2.52)和3.35倍(95%CI 2.07～5.54).MTHFR 1298 A>C多态与喉鳞癌发病风险不相关.基因一环境交互作用分析表明,677C>T多态与吸烟存在协同增加喉鳞癌的发病风险.结论 MTHFR 677C>T多态是喉鳞癌的遗传易感因素.

Association between genetic polymorphisms in methylenetetrahydrofolate reductase and risk of laryngeal squamous cell carcinoma

OBJECTIVE: To determine whether genetic variations in methylenetetrahydrofolate reductase (MTHFR) are associated with the risk of laryngeal squamous cell carcinoma (LSCC) in a Chinese population. METHODS: Two hundred and seven cases with LSCC and 400 matched health controls were genotyped for the MTHFR 677C > T and 1298A > C polymorphisms by PCR-restriction fragment length polymorphism (PCR-RFLP) methods. The relation between these genotypes and risk of LSCC and gene-environment interaction were analyed. The adjusted odds ratios (OR) and 95% confidence intervals (CI) were calculated by using unconditional Logistic regression model. RESULTS: The individuals with 677CT and 677TT genotype had a 1.66-fold (95% CI 1.08-2.52) and 3.35-fold (95% CI 2.07-5.54) increased risk of developing LSCC comared with those who had 677CC genotype. The individuals with MTHFR 1298A > C genotype was not significantly different between the two groups. Furthermore, cigarette smoking was also found to interact with MTHFR 677C > T polymorphism in increasing the risk to LCSS further demonstrating the role of gene-environment interaction in development of LSCC. CONCLUSIONS: These findings suggested that the MTHFR 677C > T polymorphism may contribute to the risk of developing LSCC among Chinese population.