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- 2017
SEPS1基因多态性与汉族人群桥本甲状腺炎的遗传关联
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Abstract:
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。
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
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