SEPS1 gene variants reveal their relative importance as genetic susceptibility factors for Hashimoto's thyroiditis in the Han population

Objective: To investigate the potential association between SEPS1 variants and Hashimoto's thyroiditis (HT) in the Chinese Han population and evaulate the effects of SEPS1 haplotypes on the susceptibility to immunity-mediated diseases. Methods: We analyzed 7 SNPs with minor allele frequency (MAF) ≥0.05 in a cohort of 1 013 HT patients and 2 998 healthy controls from genetically independent Han Chinese individuals. Single SNP, haplotype and gender-specific associations were performed. Results: We found that rs28665122 was significantly associated with HT, and SNP was associated with HT in females. Further haplotypic analysis indicated that a haplotype block (rs2009895-rs28665122) spanning the promoter of SEPS1 gene was highly associated with HT. Additionally, the haplotype CA in the block had an almost 1.5-fold increase in these cases, which remained significantly associated with HT in females. Conclusion: SEPS1 plays a role in the pathogenesis and etiology of HT.