Abstract
The aim of this study was to investigate the frequency of methylenetetrahydrofolate
reductase (MTHFR) gene polymorphisms in Georgian females with hypothyroidism. Thirty-four patients
and 29 healthy individuals were recruited in this study. Polymerase chain reaction-restriction
fragment length polymorphism analyses were used for genotyping of MTHFR polymorphisms. The results of this study suggest that the MTHFR C677T variant was significantly associated with hypothyroidism. In addition, in individuals
with T allele risk of hypothyroidism significantly increased. Combination of CT/AA
genotypes was more prevalent in the hypothyroid patients than in the control group.
Thus, C677T polymorphism could be a possible genetic factor contributing to the pathophysiology
of hypothyroidism, possibly through hyperhomocysteinemia.
Keywords
hypothyroidism - hyperhomocysteinemia - MTHFR - SNPs - PCR-RFLP