%0 Journal Article
%T SEPS1基因多态性与汉族人群桥本甲状腺炎的遗传关联<br>SEPS1 gene variants reveal their relative importance as genetic susceptibility factors for Hashimoto’s thyroiditis in the Han population
%A 李
%A 苗
%A 刘百灵
%A 张
%A 晨
%A 黄丽丽
%A 姜
%A 珏
%A 周
%A 琦
%J 西安交通大学学报(医学版)
%D 2017
%R 10.7652/jdyxb201702016
%X 摘要：目的 研究汉族群体中SEPS1基因变异与桥本氏甲状腺炎(HT)潜在的联系，评估SEPS1单倍型对免疫介导性炎症疾病易感性的影响。方法 对1013例HT病例样本和2998例健康对照MAF值≥0.05的7个SNP进行基因分型。结果 在女性群体和整个群体中rs28665122与HT显著相关(等位基因P分别为0.002644和0.000518，基因型P分别为0.010326和0.002731)。进一步基于单体型的分析表明，rs2009895-rs28665122单体型也仅在女性群体中与HT显著相关(P=0.0036)，而在男性群体中不相关。结论 SEPS1基因在HT的发病机制和病因中起着一定的作用。<br>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
%K 单核苷酸多态性
%K 炎症
%K 桥本氏甲状腺炎
%K 遗传分析
%K 汉族&lt
%K br&gt
%K single-nucleotide polymorphism
%K inflammation
%K Hashimoto’s thyroiditis
%K genetic analysis
%K Han population
%U http://yxxb.xjtu.edu.cn//oa/darticle.aspx?type=view&id=201702016