{Reference Type}: Journal Article
{Title}: MTHFR 677C>T and 1298A>C Variants in Mothers of Infants with Down Syndrome from Western Mexico.
{Author}: Romero-Bolaño YM;Bobadilla-Morales L;Corona-Rivera A;Cuero-Quezada I;Santana-Hernández J;Peña-Padilla C;Brukman-Jiménez A;Orozco-Vela M;Navia-Espinoza N;Corona-Rivera JR;
{Journal}: Genet Test Mol Biomarkers
{Volume}: 28
{Issue}: 6
{Year}: 2024 Jun 8
{Factor}: 1.736
{DOI}: 10.1089/gtmb.2023.0690
{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.