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首页> 外文期刊>International journal of gastrointestinal cancer >The methylenetetrahydrofolate reductase (MTHFR) gene in colorectal cancer: role in tumor development and significance of allelic loss in tumor progression.
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The methylenetetrahydrofolate reductase (MTHFR) gene in colorectal cancer: role in tumor development and significance of allelic loss in tumor progression.

机译：亚甲基四氢叶酸还原酶（MTHFR）基因在结直肠癌中的作用：在肿瘤发展中的作用以及等位基因缺失在肿瘤进展中的意义。

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BACKGROUND AND AIM: Folate deficiency predisposes to sporadic colorectal cancer (CRC). Methylenetetrahydrofolate reductase (MTHFR) is a critical folate-metabolising enzyme and a polymorphism at position 677 (C677T), is associated with reduced enzyme activity. We investigated whether this functional polymorphism modulates the risk of developing CRC. METHODS: This was a retrospective case-control study. 136 unselected cases of sporadic CRC and 848 normal population controls were genotyped for the MTHFR C677T polymorphism. Tumor tissue was genotyped to assess loss of heterozygosity (LOH). RESULTS: MTHFR CT heterozygotes had a significantly increased risk of developing CRC (53.7% of CRC cases vs 38.4% of controls), odds ratio 1.86 (95% CI 1.3-2.7, p < 0.005). No increased cancer risk was observed in TT homozygotes. The MTHFR 'T' allele frequency was significantly higher in the cancer group (0.3713) as compared to controls (0.2900, p < 0.008). LOH at the MTHFR locus was observed in 18% of informative cancers, with exclusive loss of the variant 'T' allele, in all cases. CONCLUSION: In this study of a homogenous northern European population, MTHFR CT heterozygotes had an almost two-fold increased risk of developing sporadic CRC. The exclusive pattern of MTHFR allele loss in cases of LOH, suggest that functional MTHFR activity within a tumor might play an important role in the survival and progression of a colonic neoplasm.
机译：背景与目的：叶酸缺乏易患散发性结直肠癌（CRC）。亚甲基四氢叶酸还原酶（MTHFR）是一种重要的叶酸代谢酶，在677位（C677T）处的多态性与降低的酶活性有关。我们调查了这种功能多态性是否调节CRC发生的风险。方法：这是一项回顾性病例对照研究。针对MTHFR C677T多态性对136例散发性CRC未选择病例和848例正常人群进行了基因分型。对肿瘤组织进行基因分型以评估杂合性（LOH）的丧失。结果：MTHFR CT杂合子患​​结直肠癌的风险显着增加（结直肠癌病例的53.7％与对照组的38.4％），比值比为1.86（95％CI为1.3-2.7，p <0.005）。在TT纯合子中未观察到增加的癌症风险。与对照组（0.2900，p <0.008）相比，癌症组（0.3713）的MTHFR'T'等位基因频率明显更高。在所有情况下，在18％的信息性癌症中均观察到MTHFR基因座的LOH，且仅丢失了变异的'T'等位基因。结论：在这项对北欧同质人群的研究中，MTHFR CT杂合子发生散发性CRC的风险几乎增加了两倍。在LOH病例中，MTHFR等位基因丢失的排他模式表明，肿瘤内功能性MTHFR活性可能在结肠肿瘤的存活和发展中起重要作用。

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