deCODE Genetics/Amgen, Sturlugata 8, 101, Reykjavik, Iceland.
School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland.
Commun Biol. 2021 Sep 27;4(1):1132. doi: 10.1038/s42003-021-02642-9.
Platelets play an important role in hemostasis and other aspects of vascular biology. We conducted a meta-analysis of platelet count GWAS using data on 536,974 Europeans and identified 577 independent associations. To search for mechanisms through which these variants affect platelets, we applied cis-expression quantitative trait locus, DEPICT and IPA analyses and assessed genetic sharing between platelet count and various traits using polygenic risk scoring. We found genetic sharing between platelet count and counts of other blood cells (except red blood cells), in addition to several other quantitative traits, including markers of cardiovascular, liver and kidney functions, height, and weight. Platelet count polygenic risk score was predictive of myeloproliferative neoplasms, rheumatoid arthritis, ankylosing spondylitis, hypertension, and benign prostate hyperplasia. Taken together, these results advance understanding of diverse aspects of platelet biology and how they affect biological processes in health and disease.
血小板在止血和血管生物学的其他方面发挥着重要作用。我们使用 536974 名欧洲人的血小板计数 GWAS 数据进行了荟萃分析，确定了 577 个独立的关联。为了寻找这些变体影响血小板的机制，我们应用 cis-expression 数量性状基因座、DEPICT 和 IPA 分析，并使用多基因风险评分评估血小板计数与各种性状之间的遗传共享。我们发现血小板计数与除红细胞以外的其他血细胞计数之间存在遗传共享，此外还有其他几种数量性状，包括心血管、肝脏和肾脏功能、身高和体重的标志物。血小板计数多基因风险评分可预测骨髓增生性肿瘤、类风湿关节炎、强直性脊柱炎、高血压和良性前列腺增生。总之，这些结果提高了我们对血小板生物学的不同方面以及它们如何影响健康和疾病中生物过程的理解。
