Endocrine Abstracts

Graves’ disease (GD) is an autoimmune disease caused by autoantibodies binding to and activating the thyroid-stimulating hormone receptor (TSHR). Chronic stimulation of the TSHR results in a hyperactive thyroid gland and hyperthyroidism. The purpose of this study was to determine the association between Rho-kinase (ROCK1 and ROCK2) gene polymorphisms and GD in a Turkish population. A total of 142 patients with HT and 163 healthy control subjects were included to this study. Genomic DNA was analyzed using the dynamic array system (Fluidigm, CA, USA). The Chi-square or Fisher’s exact tests were used for calculation of the significance of differences in frequencies. Bonferroni correction for multiple testing was used for polymorphism studies, and P < 0.0083 (0.05/6) was considered statistically significant. There were marked changes in TT genotype (0.0%, P < 0.0001) and T allele (1.4%, P < 0.0001) frequencies for the ROCK1 gene rs35996865 polymorphism in GD group when compared to controls (TT 12.9%, T 14.4%). For ROCK2 gene rs965665 polymorphism, CG genotype frequency (6.9%, P = 0.0034) was markedly low among GD cases when compared to the controls (CG 20.0%). However, no associations were found with ROCK1 rs73963110, ROCK2 rs726843, ROCK2 rs2290156, and ROCK2 rs10178332 polymorphisms. This is the first study showing that ROCK1 rs35996865 and ROCK2 gene rs965665 polymorphisms were associated with GD in the Turkish population. This study was supported by a project (SBAG-213S021) from the TUBITAK, Turkey.