Allelic Distribution of A1298C and C677T Polymorphisms of MTHFR in Central India BC05-BC09
Dr. Suprava Patel,
Associate Professor, Department of Biochemistry, AIIMS, Raipur, Chhattisgarh, India.
Introduction: A 5,10-Methylene Tetra Hydrofolate Reductase (MTHFR) is known for its metabolic implications involved in biosynthesis of various active metabolites involved in gene expression and modulating protein functions. The variants, A1298C and C677T, have been studied globally for its association with various disorders. The prevalence for the polymorphisms of the two variants has not been much studied in Central region, especially in children.
Aim: To know the prevalence of MTHFR variants in children in central region.
Materials and Methods: The cross-sectional study was conducted on 375 children aged 5-15 years. All children in the study population, irrespective of their health status, were recruited from Outpatient Department (OPD) and Inpatient Department (IPD) of the institute during the sampling period of three months. The collected samples were analysed for MTHFR C677 (rs1801133) and A1298 (rs1801131) polymorphism by RT-PCR using TaqMan SNP genotyping assay. Percentage calculation for allele and genotype frequency, Hardy-Weinberg Equilibrium (HWE) and Linkage Disequilibrium (LD) were calculated using Microsoft Excel.
Results: The wild type CC677 (72.3%) was the most commonly occurring genotype in the study group. The frequency of wild type alleles for A1298C and C677T was 0.59 and 0.86, respectively and the minor allele (homozygous mutant variant) frequency was 0.41 and 0.14, respectively in the study population. High prevalence of mutant CÂ´ allele (41%) of A1298C and high prevalence of combined genotype CC/ACÂ´ (35.2%) together contribute to higher frequency of heterozygous (46.9%) and homozygous mutant (17.9%) forms of A1298C as compared to the variants of C677T. The allelic frequencies did not follow HWE and exhibited significant but low LD (Dâ€™=0.12, p=0.04).
Conclusion: The mutant allele of A1298C was more frequently occurring. Fresh incorporation of the mutant allele into the population might be responsible for disrupting the HWE and low LD.