多血统荟萃分析确定了5个缺血性中风的新基因座，并揭示了性别和血统之间效应的异质性。
Multi-ancestry meta-analysis identifies 5 novel loci for ischemic stroke and reveals heterogeneity of effects between sexes and ancestries.
作者信息
Surakka Ida, Wu Kuan-Han, Hornsby Whitney, Wolford Brooke N, Shen Fred, Zhou Wei, Huffman Jennifer E, Pandit Anita, Hu Yao, Brumpton Ben, Skogholt Anne Heidi, Gabrielsen Maiken E, Walters Robin G, Hveem Kristian, Kooperberg Charles, Zöllner Sebastian, Wilson Peter W F, Sutton Nadia R, Daly Mark J, Neale Benjamin M, Willer Cristen J
机构信息
Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA.
Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.
出版信息
Cell Genom. 2023 Jun 19;3(8):100345. doi: 10.1016/j.xgen.2023.100345. eCollection 2023 Aug 9.
Stroke is the second leading cause of death and disability worldwide. Stroke prevalence varies by sex and ancestry, possibly due to genetic heterogeneity between subgroups. We performed a genome-wide meta-analysis of 16 biobanks across multiple ancestries to study the genetics of ischemic stroke (60,176 cases, 1,310,725 controls) as part of the Global Biobank Meta-analysis Initiative (GBMI) and further combined the results with previously published MegaStroke. Five novel loci for ischemic stroke (, , , , and ) were identified after replication in four additional datasets. One previously reported locus showed significant ancestry heterogeneity (), and one showed significant sex heterogeneity (). The association was male specific (males p = 1.67e-24, females p = 0.126) and was additionally observed only in the East Asian ancestry (male) samples. These findings emphasize the need for more diverse datasets with large sample sizes to further understand the genetic predisposition of stroke in different ancestry and sex groups.
中风是全球第二大致死和致残原因。中风患病率因性别和血统而异，这可能是由于亚组之间的基因异质性。作为全球生物样本库荟萃分析倡议（GBMI）的一部分，我们对多个血统的16个生物样本库进行了全基因组荟萃分析，以研究缺血性中风的遗传学（60176例病例，1310725例对照），并进一步将结果与之前发表的MegaStroke研究相结合。在另外四个数据集中进行复制后，确定了五个缺血性中风的新基因座（、、、和）。一个先前报道的基因座显示出显著的血统异质性（），另一个显示出显著的性别异质性（）。该关联是男性特异性的（男性p = 1.67e-24，女性p = 0.126），并且仅在东亚血统（男性）样本中额外观察到。这些发现强调需要更多具有大样本量的多样化数据集，以进一步了解不同血统和性别群体中风的遗传易感性。
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