SAT-428 Sex-Specific Risk Gene of Graves’ Disease

Abstract Graves’ disease is one of the most common forms of autoimmune thyroid disease, with several susceptibility single nucleotide polymorphisms identified by the case-control association studies. In this study, we aim to determine whether any observed differences in genetic associations are influenced by sex in Chinese Han populations. A total of 8,835 patients with Graves’ disease and 9,936 sex-matched healthy controls were enrolled in the study. We conducted sex specific analysis among 20 Graves’ disease susceptibility loci confirmed by two-stage association analysis. A significant sex-gene interaction was detected primarily at rs5912838 on Xq21.1 between the GPR174 and ITM2A gene, whereby men patients with Graves’ disease possessed a significantly higher frequency of risk alleles than women. Interestingly, men patients with Graves’ disease had a higher cumulative genetic risk than women. Our findings suggest one potential sex-specific link of Graves’ disease on Xq21.1, which could increase our understanding of the pivotal mechanisms behind Graves’ disease and ultimately the provision of possible therapeutic targets.