意大利MTHFR基因多态性对胃肠道癌症风险的影响。
Effect of MTHFR Polymorphisms on Gastrointestinal Cancer Risk in Italy.
作者信息
Mazzuca Federica, Borro Marina, Botticelli Andrea, Aimati Laura, Gentile Giovanna, Capalbo Carlo, Maddalena Chiara, Mazzotti Eva, Simmaco Maurizio, Marchetti Paolo
机构信息
Department of Clinical Oncology, Faculty of Medicine and Psychology, University of Rome "La Sapienza", Azienda Ospedaliera Sant'Andrea, Via di Grottarossa, 1035/39, 00189 Roma, Italy.
Department of Advanced Molecular Diagnosis Unit (DiMA), Azienda Ospedaliera Sant'Andrea, Via di Grottarossa, 1035/39, 00189 Roma, Italy.
出版信息
World J Oncol. 2015 Aug;6(4):394-397. doi: 10.14740/wjon930w. Epub 2015 Aug 27.
BACKGROUND
The aim of the study was to assess the association of single nucleotide polymorphisms (SNPs) C677T and A1298C in the methylenetetrahydrofolate reductase gene with colorectal, esophageal/gastric and pancreatic cancer in a cohort of Italian patients.
METHODS
A total of 790 cancer patients and 202 healthy controls were genotyped and distributions in genotype and allele frequencies were compared by Chi-squared analysis and logistic regression analysis.
RESULTS
According to most of previous findings, we found an effect of the C677T variant, but no effect of the A1298C, in colorectal and esophageal/gastric, whereas no association was evidenced with pancreatic cancer. We found that only homozygous TT carriers of the C677T variant had an increased risk for onset of cancer.
CONCLUSION
This result could be related to dietary and behavioral habits of the analyzed population, which could mitigate the deleterious effect of the T allele in heterozygosity and it highlights the importance to validate genetic determinant of cancer risk in different population and geographical areas.
背景
本研究旨在评估意大利患者队列中亚甲基四氢叶酸还原酶基因单核苷酸多态性（SNP）C677T和A1298C与结直肠癌、食管/胃癌和胰腺癌之间的关联。
方法
对总共790例癌症患者和202例健康对照进行基因分型，并通过卡方分析和逻辑回归分析比较基因型和等位基因频率的分布。
结果
根据之前的大多数研究结果，我们发现C677T变异在结直肠癌和食管/胃癌中有影响，但A1298C无影响，而未发现与胰腺癌有关联。我们发现只有C677T变异的纯合子TT携带者患癌风险增加。
结论
这一结果可能与所分析人群的饮食和行为习惯有关，这些习惯可能减轻杂合子中T等位基因的有害影响，并且突出了在不同人群和地理区域验证癌症风险遗传决定因素的重要性。
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