AI Article Synopsis
- Major congenital malformations affect about 3% of newborns, with some studies indicating the C677T MTHFR variant as a potential risk factor for neural tube defects (NTDs).
- It is proposed that maternal folic acid supplementation might help prevent NTDs by improving the activity of the MTHFR enzyme in women with this genetic variant.
- In this study focused on the Malaysian Malay population, the MTHFR 677TT genotype was not found in either the group with NTDs or the control group, suggesting a lack of association in this population.
Article Abstract
Major congenital malformations occur in about 3% of newborn. Several studies have suggested that homozygosity for the C677T methylenetetrahydrofolate reductase (MTHFR) variant is a potential risk factor for neural tube defects (NTDs). It has been hypothesized that the maternal folic acid supplementation prevents NTDs by partially correcting reduced MTHFR activity associated with the variant form of the enzyme. This association has not been found in some ethnic groups. In this study, we attempted to assess the association between NTDs and MTHFR C677T in Malaysian Malay population. Results show that MTHFR 677TT genotype was absent in both patient and control groups.
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