MTHFR genetic polymorphism as a risk factor in Egyptian mothers with Down syndrome children英文电子资料.pdf

Disease Markers 24 (2008) 19–26 19 IOS Press MTHFR genetic polymorphism as a risk factor in Egyptian mothers with Down syndrome children a,∗ a b b c Nagwa A. Meguid , Ahmed A. Dardir , Mohamed Khass , Lamia El Hossieny , Afaf Ezzat and Mostafa K. El Awadyb aDepartment of Research on Children with Special Needs, National Research Center, Cairo, Egypt bDepartment of Biomedical Technology, National Research Center, Cairo, Egypt cDepartment of Nutrition and Food Science, National Research Center, Cairo, Egypt Abstract. Recent reports linking Down syndrome (DS) to maternal polymorphisms at the methylenetetrahydrofolate reductase (MTHFR) gene locus have generated great interest among investigators in the field. The present study aimed at evaluation of MTHFR 677C/T and 1298A/C polymorphisms in the MTHFR gene as maternal risk factors for DS. Forty two mothers of proven DS outcomes and forty eight control mothers with normal offspring were included. Complete medical and nutritional histories for all mothers were taken with special emphasis on folate intake. Folic acid intake from food or vitamin supplements was significantly low (below the Recommended Daily Allowance) in the group of case mothers compared to control mothers. Frequencies of MTHFR 677T and MTHFR 1298C alleles were significantly higher among case mothers (32.1% and 57.1%, respectively) compared to control mothers (18.7% and 32.3%, respectively). Heterozygous and homozygous genotype frequencies of MTHFR at position 677 (CT and TT) were higher among case mothers than controls (40.5% versus 25% and 11.9% versus 6.2%, respectively) with an odds ratio of 2.34 (95% confidence interval [CI] 0.93–5.89) and 2.75