DefinePK

Abstract

Graves’ disease (GD) is an autoimmune thyroid disorder marked by hyperthyroidism and the presence of thyroid-stimulating hormone receptor (TSHR) autoantibodies. Genetic susceptibility is a key factor in GD pathogenesis, with TSHR gene polymorphisms playing a significant role. This study evaluated the association of three TSHR single nucleotide polymorphisms (SNPs)—rs74067403, rs1054708, and rs2268458—with GD in a population from Coastal Andhra Pradesh, India. A case-control design included 170 confirmed GD patients and 170 age- and sex-matched healthy controls. Genomic DNA was isolated and genotyped using allele-specific PCR. Chi-square tests and odds ratios (OR) with 95% confidence intervals (CI) assessed genotype-disease associations. The rs74067403 AG genotype was significantly associated with increased GD risk (OR = 2.38; 95% CI: 1.18–4.78; p = 0.0145), while the AA genotype appeared protective. The rs2268458 TC genotype showed a strong association with GD (OR = 11.13; p < 0.0001), and the C allele was more frequent among cases. In contrast, rs1054708 was monomorphic (TT) in all participants and showed no disease association. Additionally, both rs74067403 and rs2268458 were significantly associated with remission after radioiodine therapy and orbitopathy in GD patients. Overall, rs74067403 and rs2268458 may serve as potential genetic markers for GD risk in this region, while rs1054708 appears non-contributory. These findings underscore the importance of region-specific genetic studies in understanding autoimmune thyroid disease.