Association of TSHR gene single nucleotide intronic polymorphism with the risk of hypothyroid and hyperthyroid disorders in Yazd province

The present study was carried out, for the first time, to evaluate the association of rs2268458 polymorphism, biochemical and environmental factors on hypothyroid and hyperthyroid disorders in thyroid patients and healthy individuals in Yazd province, Iran. In this study, blood samples were collected from a total of 100 cases, including 60 hypothyroid, 20 hyperthyroid and 20 normal individuals. DNA was extracted from blood samples and the rs2268458 single nucleotide intronic polymorphism was evaluated using Restriction Fragment Length Polymorphism PCR (RFLP-PCR). The results have shown that 59 individuals were homozygote (TT), 40 cases were heterozygote (TC) and one homozygote (CC) case. Of 59 TT homozygote cases, 25 cases were hypothyroid females and 7 hypothyroid male patients. While, heterozygote TC group consisted of 20 hypothyroid females and 7 hypothyroid male cases. Furthermore, only 1 (CC) homozygote male hypothyroid patient was observed in this study. The hyperthyroid population consisted of 7 (TT) homozygote hyperthyroid female cases, 8 (TC) heterozygote hyperthyroid female cases, 3 (TT) homozygote hyperthyroid male cases and 2 (TC) heterozygote hyperthyroid male cases. According to our study, heterozygote cases (TC) showed less severe symptoms, while homozygote cases (TT) showed no serious symptoms and the (CC) homozygote case showed severe thyroid abnormalities. So, it can be concluded that the TSHR-related rs2268458 polymorphism is associated with hypothyroidism and hyperthyroidism in the male and female populations of Yazd Province, Iran and C allele can be a risk factor for some physio-biochemical and hormonal imbalance in the thyroid disorder patients.