MTHFR基因遗传多态与食管癌贲门癌易感性的关系

Correlation between a Polymorphism in the Methylene Tetrahydrofolate Reductase Gene and Susceptibility to Carcinoma of the Esophagus and Gastric Cardia

目的:探讨食管癌高发区亚甲基四氢叶酸还原酶(MTHFR)基因单核苷酸多态与食管癌、贲门癌发病风险的关系。方法:以聚合酶链反应和限制性片段长度多态方法,分析584例食管癌患者、467例贲门癌患者和540例正常对照的MTHFR基因C677T基因型及其与食管癌、贲门癌发病风险的相关性。结果:在正常对照中,MTH-FR677CC、CT、TT基因型频率分别为22.1%、43.3%和34.6%,在食管癌患者中分别为12.5%、45.0%和42.5%(P=0.000);在贲门癌患者中分别为15.8%、43.5%和40.7%(P=0.024)。多因素分析发现,携带677TT基因型和677CT基因型的个体发生食管癌的风险分别是677CC基因型的2.36倍和1.76倍,发生贲门癌的风险分别是1.34倍和1.23倍。结论:MTHFR单核苷酸多态是食管癌高发区食管癌和贲门癌的遗传易感性因素。

Objective： To evaluate the correlation between the methylene tetrahydrofolate reductase （MTHFR） mononucleotide polymorphism and risk of onset for carcinoma of the esophagus and gastric cardia. Methods： The polymerase chain reaction （PCR） and restriction fragment length polymorphism （RFLP） assay was used to analyze the MTHFR C677T polymorphism in 584 cases with esophageal squamous cell carcinomas （ESCC）, 467 with adenocarcinoma of gastric cardia （AGC） and 540 age-and sex-matched normal controls. Results： In the normal controls, the frequency of the MTHFR 677C/C, C/T and T/T genotypes was 22.1%, 43.3% and 34.6%, respectively, while in the ESCC group, the frequency was 12.5%, 45.0% and 42.5%, respectively （P=0.000）. In the AGC group, the frequency of the C/C, C/T and T/T genotypes was 15.8%, 43.5% and 40.7%, respectively （P=0.024）. Multiplicity analysis showed that individuals with the MTHFR 677TT and 677CT genotypes had a significantly higher risk for developing ESCC （OR=2.36, OR=1.76） and GCA （OR=1.34, OR=1.23） compared to the 677CC genotypes. Conclusion： The MTHFR mononucleotide polymorphism can be used to assess risk for hereditary susceptibility to carcinoma of the esophagus and gastric cardia in the high risk area of esophageal carcinoma.