%0 Journal Article
%T MTHFR 677C>T and 1298A>C Variants in Mothers of Infants with Down Syndrome from Western Mexico.
%A Romero-Bolaño YM
%A Bobadilla-Morales L
%A Corona-Rivera A
%A Cuero-Quezada I
%A Santana-Hernández J
%A Peña-Padilla C
%A Brukman-Jiménez A
%A Orozco-Vela M
%A Navia-Espinoza N
%A Corona-Rivera JR
%J Genet Test Mol Biomarkers
%V 28
%N 6
%D 2024 Jun 8
%M 38717090
%F 1.736
%R 10.1089/gtmb.2023.0690
%X 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.