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首页> 外文期刊>Journal of International Medical Research >Genetic Polymorphisms of MTHFR and Aberrant Promoter Hypermethylation of the RASSF1A Gene in Bladder Cancer Risk in a Chinese Population
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Genetic Polymorphisms of MTHFR and Aberrant Promoter Hypermethylation of the RASSF1A Gene in Bladder Cancer Risk in a Chinese Population

机译：中国人群膀胱癌风险中MTHFR和RASSF1A基因异常启动子超甲基化的遗传多态性

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Epidemiological studies have shown that folate deficiency increases the risk of cancer by affecting DNA repair and methylation. Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in folate metabolism. In this study, it was hypothesized that MTHFR (C677T and A1298C) polymorphisms would be associated with bladder cancer and also with hypermethylation of the promoter of the Ras association domain family 1A (RASSF1A) gene. This hospital-based, case-control study of 312 bladder cancer patients and 325 cancer-free controls found that individuals carrying the MTHFR 677TT genotype had a 2.00-fold increased risk of bladder cancer compared with those carrying the 677CC genotype. None of the MTHFR A1298C polymorphisms alone were associated with bladder cancer, but the combined haplotype 677TT/1298AA was associated with a 2.27-fold increased risk compared with haplotype 677CC/1298AA. There was no association between MTHFR gene variants and methylation status of the RASSF1A gene in the 45 bladder cancer patients in whom this was studied. It is concluded that the MTHFR 677TT genotype and the TTAA haplotype may increase the risk of bladder cancer.
机译：流行病学研究表明，叶酸缺乏会影响DNA修复和甲基化，从而增加患癌症的风险。亚甲基四氢叶酸还原酶（MTHFR）是叶酸代谢中的关键酶。在这项研究中，假设MTHFR（C677T和A1298C）多态性将与膀胱癌以及Ras缔合域家族1A（RASSF1A）基因启动子的高甲基化有关。这项基于医院的病例对照研究对312名膀胱癌患者和325名无癌对照者进行了研究，发现携带MTHFR 677TT基因型的个体与携带677CC基因型的个体相比，患膀胱癌的风险增加了2.00倍。单独的MTHFR A1298C多态性均与膀胱癌无关，但与677CC / 1298AA单体型相比，组合的677TT / 1298AA单体型的风险增加了2.27倍。研究的45例膀胱癌患者中，MTHFR基因变异与RASSF1A基因甲基化状态之间没有关联。结论是MTHFR 677TT基因型和TTAA单倍型可能增加膀胱癌的风险。

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