MTHFR C677T基因多态性与食管癌及食管癌前病变的遗传易感性研究

MTHFR C677T polymorphism and genetic susceptibility of esophageal cancer and esophageal precancerous lesions

目的研究亚甲基四氢叶酸还原酶(MTHFR)C677T基因多态性与食管癌发生风险的关系。方法选取中国食管癌高发区173名食管癌新发病例,150名食管癌前病变患者和207名健康人。采用聚合酶链反应-限制性片段长度多态性(PCRRFLP)方法检测MTHFR C677T基因多态性。应用卡方检验分析对照组、食管癌前病变组(轻、中和重度)和食管癌组MTHFR基因型频率分布。结果 MTHFR C677T基因型分布在对照组和食管癌组中无显著性差异。食管癌前病变组MTHFR 677TT基因型和T等位基因频率分布与对照组比较有显著差异(P<0.05)。中、重度食管癌前病变组TT基因型和中度组T等位基因频率分布与轻度组比较有显著差异(P<0.05)。结论 MTHFR C677T基因多态性可能与食管癌易感性无关,但与食管癌前病变易感性存在相关性,携带MTHFR 677TT基因型和T等位基因的个体发生食管癌前病变的危险性较高。

Objective To study the association between methylene tetrahydrofolate reductase （MTHFR） C677T polymorphism and esophageal cancer risk. Methods 173 esophageal cancer cases, 150 esophageal precancerous lesions cases and 207 healthy controls were selected in a high esophageal cancer incidence region in Huai＇an, China. MTHFR genotypes at the C677T site were analyzed by polymerase chain reaction- restriction fragment length polymorphism （PCR-RFLP） methods. Chi-square test was used to estimate MTHFR genotype frequency distribution in the control, esophageal precancerous lesions （mild, moderate and severe） and esophageal cancer groups. Results MTHFR C677T genotype distributions in the control and esophageal cancer groups had no significant differences. There was a significant difference in the frequency distribution of MTHFR 677TT genotype and T allele between the esophageal precancerous lesions group and the control group （P 〈 0.05）. Compared with the mild group, the MTHFR 677TT genotype distribution in the moderate or severe esophageal precancerous lesions groups and T allele in the moderate group had significant differences （P 〈 0.05）. Conclusion There may be no correlation between the MTHFR C677T gene polymorphism and susceptibility to esophageal cancer, but it had correlation with susceptibility to esophageal precancerous lesions. Individuals with MTHFR 677TT variant genotypes and T allele were at higher risk of esophageal precancerous lesions.