TITLE:
Study of A1298C MTHFR Gene Polymorphism as a Risk Factor for Neural Tube Defects in the Eastern Algerian Population
AUTHORS:
Amel Abbas, Karima Sifi, Karima Benembarek, Nourredine Abadi
KEYWORDS:
Methylenetetrahydrofolate Reductase, A1298C Polymorphism, Homocyste-ine, Neural Tube Defects
JOURNAL NAME:
Open Journal of Genetics,
Vol.11 No.3,
September
10,
2021
ABSTRACT: Background: As C677T mutation, A1298C mutation in methylene tetrahydrofolate
reductase (MTHFR) gene results in a decreased MTHFR activity but to a less extent, it is
known as a risk factor of predisposition to human neural tube defects (NTDs),
in some populations. Our objective was therefore to study, for the first time
in Algerian population, if A1298C polymorphism confers risk for the occurrence of this abnormality. We have
examined the distribution of the genotype and the allele frequencies of A1298C
mutation, and also their influence on plasma homocysteine (Hcy) concentration. Patients
and Methods: We studied this polymorphism in 38 mothers of NTD cases and 67
control individuals of an eastern Algerian population. The mutation was determined by polymerase chain reaction-restriction fragment length polymorphism analysis (PCR/RFLP). Plasma
homocysteine concentration was analyzed using an automated chemiluminescence
method. Results: No signi?cant association could be observed between
allele and genotypes frequencies of A1298C MTHFR gene polymorphism and NTDs
risk. However, we could observe that A1298C polymorphism affects homocysteine
metabolism in mothers of NTD cases leading to homocysteine concentration values
higher in AA genotype and lower in AC/CC genotypes (15.29 ± 11.8 μmol/l vs. 8.63 ± 3.83 μmol/l, p Conclusion: Data indicate that A1298C MTHFR gene polymorphism
might be a risk factor by affecting homocysteine metabolism in mothers of
Algerian children with NTDs.