论文部分内容阅读
亚甲基四氢叶酸还原酶 (MTHFR)在叶酸代谢中起重要作用 .MTHFR基因第 6 77位核苷酸的多态性(C→T)能影响其酶活性并与肿瘤易感性有关 .为比较中国北方人群MTHFRC6 77T多态性与食管鳞状细胞癌(ESCC)易感性之间的关系 ,通过高速实时聚合酶链反应 (real timePCR)和解链曲线 (meltingcurve)方法分析了 189名ESCC患者和 14 1名健康对照的MTHFRC6 77T多态性位点的基因型 .结果显示 ,健康对照组的MTHFRC/C (纯合野生 )、C/T和T/T (纯合突变 )基因型的频率分别为 17 7%、 38 3%和 4 4 0 % .ESCC患者的T/T基因型频率 (42 3% )与健康对照组无显著差异 (χ2 =0 0 89,P >0 0 5 ) ,其C/T基因型频率(49 2 % )仅略高于对照组 (χ2 =3 890 ,P <0 0 5 ) ,而患者组的C/C基因型频率 (8 5 % )显著低于健康对照组(17 7% ) (χ2 =6 37,P =0 0 12 ) .与C/T和T/T基因型相比 ,C/C基因型可显著降低ESCC的发病风险 (相对风险度的比值比 (OR) =0 4 3,95 %可信区间 (CI) =0 2 2～ 0 84 ) ,在吸烟者和有上消化道肿瘤家族史的患者中这一倾向更加明显 .研究提示 ,在中国北方人群中 ,MTHFRC6 77T纯合野生基因型对ESCC的发病起保护作用
Methylenetetrahydrofolate reductase (MTHFR) plays an important role in the metabolism of folic acid.The genetic polymorphism (C → T) of MTHFR at nucleotide 677 can affect its enzymatic activity and is related to tumor susceptibility The relationship between MTHFRC6 77T polymorphism and the susceptibility to esophageal squamous cell carcinoma (ESCC) in northern Chinese population was compared. A total of 189 ESCC patients were analyzed by real-time PCR and melting curve analysis. 14 genotypes of a healthy control MTHFRC6 77T polymorphism loci showed that the frequency of MTHFRC / C (homozygous wild), C / T and T / T (homozygous) genotypes in healthy controls were Were 17 7%, 38 3% and 44 0% respectively.The frequency of T / T genotype in ESCC patients (42 3%) was not significantly different from that in healthy controls (χ 2 = 0 0 89, P 0 05) The frequency of C / T genotype (49 2%) was only slightly higher than that of control group (χ 2 = 3890, P 0 05), while the frequency of C / C genotype (85%) in patients was significantly lower than that of healthy controls (17 7%) (χ2 = 6 37, P = 0 0 12) .Compared with C / T and T / T genotypes, C / C genotypes could significantly reduce the risk of ESCC (relative risk ratio OR = 0 4 3,95 % Confidence interval (CI) = 0 2 2 ~ 0 84), a trend more pronounced in smokers and in patients with a family history of upper gastrointestinal cancer research suggests that in the northern Chinese population, MTHFRC6 77T homozygous wild Genotypes play a protective role in the pathogenesis of ESCC