Gallegos-Arreola M P, García-Ortiz J E, Figuera L E, Puebla-Pérez A M, Morgan-Villela G, Zúñiga-González G M
División de Medicina Molecular, Centro de Investigación Biomédica de Occidente (CIBO), Instituto Mexicano del Seguro Social (IMSS), Guadalajara, Jalisco, México.
Cancer Genomics Proteomics. 2009 May-Jun;6(3):183-8.
The 5,10-methyl-tetrahydrofolate reductase (MTHFR) enzyme plays a critical role in folate and homocysteine metabolism, and its gene, MTHFR, displays common genetic polymorphisms that influence its activity. Clinical implications of MTHFR polymorphisms have been reported for several diseases, including a variety of solid tumors such as colorectal cancer (CRC). Here, the role of the 677C -->T polymorphism of MTHFR was evaluated by genotyping 369 patients and 170 healthy controls from the Mexican population. The observed genotype frequencies for the controls and patients, respectively, were: 18.8% and 32% for 677TT; 34.7% and 34% for 677CC; 46.4% and 34% for 677CT. The odds ratio (OR) was 2.0 (95% confidence intervals CI; 1.3-3.3) (p<0.05). The data suggested that the 677C -->T polymorphism in MTHFR contributes significantly to the risk of CRC susceptibility in the Mexican population.
5,10-甲基四氢叶酸还原酶（MTHFR）在叶酸和同型半胱氨酸代谢中起关键作用，其基因MTHFR存在影响其活性的常见基因多态性。MTHFR多态性的临床意义已在多种疾病中报道，包括多种实体瘤，如结直肠癌（CRC）。在此，通过对墨西哥人群的369例患者和170例健康对照进行基因分型，评估了MTHFR 677C→T多态性的作用。对照和患者观察到的基因型频率分别为：677TT为18.8%和32%；677CC为34.7%和34%；677CT为46.4%和34%。比值比（OR）为2.0（95%置信区间CI：1.3 - 3.3）（p<0.05）。数据表明，MTHFR中的677C→T多态性对墨西哥人群患CRC易感性的风险有显著影响。
