DefinePK

Abstract

Methyl tetrahydrofolate reductase (MTHFR) catalyzes the formation of tetrahydrofolate from folate. Mutation in the MTHFR gene may be the potential cause of hypothyroidism. We aimed to assess the genetic association of c.677C>T and c.1298A>C polymorphisms in the MTHFR gene with hypothyroid and hyperthyroid conditions. We registered 100 participants; 50 were clinically diagnosed with thyroid dysfunction and a control group of 50 individuals. All the samples were analyzed for serum TSH, T3, and T4 values. DNA was extracted and PCR was carried out to amplify exon 4 and 7. Restriction fragment length polymorphism (RFLP) was performed for genotype C677T and A1298C alleles and confirmed by sequencing. Serum values confirmed that 32/50 patients were with hypothyroidism and 18/50 with hyperthyroidism. Genotyping data showed no deviation from Hardy-Weinberg equilibrium in the three groups. The c.677C>T polymorphism was found significantly associated (pvalue=0.021) with hypothyroidism while no significant association (p-value=0.365) with hyperthyroidism. The genotype data of allele c.1298A>C showed no significant association with hypothyroidism (p-value=0.324) and hyperthyroidism (p-value=0.303) patients. This study concludes that c.677C>T polymorphism in the MTHFR gene is possibly associated with hypothyroidism in Pakistani thyroid disease patients and can be a potential genetic marker for early risk assessment.