Abstract：
Background: Several studies in mothers of infants with Down syndrome (DS) (MoIDS) have suggested that the 677C>T and 1298A>C variants of the 5,10-methylentetrahydrofolate reductase (MTHFR) gene can increase the risk of having a child with DS. Aim: This study aimed to evaluate the MTHFR 677C>T and 1298A>C variants as potential maternal risk factors for DS. Materials and Methods: Using TaqMan allelic discrimination assay, we genotyped 95 MoIDS and 164 control mothers from western Mexico. Data were analyzed using logistic regression analysis. Results: We found that MoIDS had a significantly higher risk for the MTHFR 677TT genotype (adjusted odds ratio [aOR] = 3.4, 95% confidence interval [95% CI]: 1.1-10.6), and the MTHFR 677T allele (aOR = 1.5, 95% CI: 1.0-2.3), particularly in MoIDS <35 years of age. Conclusions: Our findings indicate that the presence of the 677TT genotype and 677T allele of the MTHFR 677C>T variant are maternal risk factors for DS in Mexican MoIDS.
摘要：
背景：在唐氏综合症（DS）（MoIDS）婴儿的母亲中进行的几项研究表明，5,10-亚甲基四氢叶酸还原酶（MTHFR）基因的677C>T和1298A>C变体可以增加患有儿童的风险DS。目的：本研究旨在评估MTHFR677C>T和1298A>C变异作为DS的潜在母体危险因素。材料和方法：使用TaqMan等位基因区分测定，我们对来自墨西哥西部的95个MoIDS和164个对照母亲进行了基因分型。数据采用logistic回归分析。结果：我们发现MoIDS对MTHFR677TT基因型的风险明显更高（调整后的比值比[aOR]=3.4，95％置信区间[95％CI]：1.1-10.6），和MTHFR677T等位基因（aOR=1.5，95%CI：1.0-2.3），特别是在MoIDS<35岁的人群中。结论：我们的发现表明，MTHFR677C>T变体的677TT基因型和677T等位基因的存在是墨西哥MoIDS中DS的母体风险因素。
