Metabolic Analysis of Methylenetetrahydrofolate Reductase Single Nucleotide Polymorphisms (MTHFR 677C IF 1.5 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Indian Journal of Clinical Biochemistry Pub Date : 2023-07-01 Epub Date: 2022-05-18 DOI:10.1007/s12291-022-01049-5 Mohammed H Hassan, Mohamed A Raslan, Mena Tharwat, Hala M Sakhr, Eslam El-Sayed El-Khateeb, Shimaa Fathy Sakr, Hesham H Ameen, Ali R Hamdan

Abstract

Neural tube defects (NTDs) are among the most prevalent and debilitating birth defects with their causes are still unknown, despite mounting evidence that genetic and/or environmental factors may play a role. We aimed to analyze two single nucleotide polymorphisms of methylenetetrahydrofolate reductase (MTHFR) gene, serum folate and vitamin B12 status among a cohort of Egyptian children with NTDs and their mothers. A case-control study has been conducted on 50 Egyptian children with various types of NTDs and their mothers. They were comparable with 50 unrelated healthy, age and sex matched children and their mothers (50) selected as controls. Pediatric and neurosurgical assessments were performed to the included cases. Serum folate and vitamin B12 were measured using ELISA kits. MTHFR 677Cp<0.05 for all). Significantly higher frequencies of both heterozygous mutant (CT) and homozygous mutant (TT) genotypes, and mutant T allele of MTHFR 677Cp<0.05 for all), with lack of significant differences of this SNP between pediatric groups. Mutant homozygous (AA) genotype and mutant A allele of MTHFR 1298Ap<0.05 for both), with OR 6.081 and 7.071, [95%CI were 3.071-11.287 and 3.296-15.172, respectively]. Significantly frequent wild homozygous (CC) genotype and normal C allele of MTHFR 1298Ap<0.05 for both), with OR 0.231 and 0.754, [95%CI were 0.095-0.561and 0.432-1.317, respectively].Low serum folate and B12 are frequently common among children with NTDs and their mothers. MTHFR 677C