SEPS1 gene variants reveal their relative importance as genetic susceptibility factors for Hashimoto's thyroiditis in the Han population / 西安交通大学学报(医学版)

ABSTRACT

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 1013 HT patients and 2998 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.