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《Journal of Xi'an Jiaotong University(Medical Sciences)》 2017-02
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SEPS1gene variants reveal their relative importance as genetic susceptibility factors for Hashimoto's thyroiditis in the Han population

LI Miao;LIU Bai-ling;ZHANG Chen;HUANG Li-li;JIANG Jue;ZHOU Qi;Department of Ultrasound,the Second Affiliated Hospital of Xi'an Jiaotong University;Department of Ultrasound,Xi'an Children's Hospital;Department One of Orthopedics,the Second Affiliated Hospital of Xi'an Jiaotong University;  
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 and2 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.
【Fund】: 国家自然科学基金资助项目(No.81301562);; 陕西省社会发展科技攻关项目(No.2016SF057)~~
【CateGory Index】: R581.4
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