全基因组荟萃分析确定了与克罗地亚人甲状腺抗体水平相关的新的性别特异性位点。
Genome-wide meta-analysis identifies novel gender specific loci associated with thyroid antibodies level in Croatians.
机构信息
Department of Medical Biology, University of Split, School of Medicine, Šoltanska 2, Split, Croatia.
MRC Human Genetics Unit, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh, United Kingdom.
出版信息
Genomics. 2019 Jul;111(4):737-743. doi: 10.1016/j.ygeno.2018.04.012. Epub 2018 Apr 18.
Autoimmune thyroid diseases (AITD) are multifactorial endocrine diseases most frequently accompanied by Tg and TPO autoantibodies. Both antibodies have a higher prevalence in females and act under a strong genetic influence. To identify novel variants underlying thyroid antibody levels, we performed GWAS meta-analysis on the plasma levels of TgAb and TPOAb in three Croatian cohorts, as well as gender specific GWAS and a bivariate analysis. No significant association was detected with the level of TgAb and TPOAb in the meta-analysis of GWAS or bivariate results for all individuals. The bivariate analysis in females only revealed a genome-wide significant association for the locus near GRIN3A (rs4457391, P = 7.76 × 10). The same locus had borderline association with TPOAb levels in females (rs1935377, P = 8.58 × 10). In conclusion, we identified a novel gender specific locus associated with TgAb and TPOAb levels. Our findings provide a novel insight into genetic and gender differences associated with thyroid antibodies.
自身免疫性甲状腺疾病（AITD）是一种多因素内分泌疾病，最常伴有甲状腺球蛋白（Tg）和甲状腺过氧化物酶（TPO）自身抗体。这两种抗体在女性中更为常见，并受强烈的遗传影响。为了确定甲状腺抗体水平的新型变异体，我们对三个克罗地亚队列的 TgAb 和 TPOAb 血浆水平进行了 GWAS 荟萃分析，以及性别特异性 GWAS 和双变量分析。在全基因组关联分析或所有个体的双变量结果的荟萃分析中，未发现 TgAb 和 TPOAb 水平与任何显著关联。在女性的双变量分析中，仅在 GRIN3A 附近的位点（rs4457391，P=7.76×10）发现与 TPOAb 水平具有全基因组显著关联。同一基因座与女性的 TPOAb 水平也有边缘关联（rs1935377，P=8.58×10）。总之，我们确定了一个与 TgAb 和 TPOAb 水平相关的新型性别特异性基因座。我们的研究结果为与甲状腺抗体相关的遗传和性别差异提供了新的见解。
Zotero 插件