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<p>Functional genomics resources are critical for interpreting human genetic studies, but currently they are predominantly from European-ancestry individuals. Here we present the South African Blood Regulatory (SABR) resource, a map of blood regulatory variation that includes three South Eastern Bantu-speaking groups. Using paired whole-genome and blood transcriptome data from over 600 individuals, we map the genetic architecture of 40 blood cell traits derived from deconvolution analysis, as well as expression, splice and cell-type interaction quantitative trait loci. We comprehensively compare SABR to the Genotype Tissue Expression Project and characterize thousands of regulatory variants only observed in African-ancestry individuals. Finally, we demonstrate the increased utility of SABR for interpreting African-ancestry association studies by identifying putatively causal genes and molecular mechanisms through colocalization analysis of blood-relevant traits from the Pan-UK Biobank. Importantly, we make full SABR summary statistics publicly available to support the African genomics community.</p>

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A map of blood regulatory variation in South Africans enables GWAS interpretation

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年6月11日

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  • Stephane E. Castel,
  • Furahini D. Tluway,
  • Anne-Katrin Emde,
  • Natalie Smyth,
  • Mohd Karim,
  • Dhriti Sengupta,
  • Olivia A. Gray,
  • Melissa Hendershott,
  • Sarah LeBaron von Baeyer,
  • Erin E. Burke,
  • Sarah Kaewert,
  • Khanh-Dung H. Nguyen,
  • Solomon S. R. Choma,
  • Reneilwe G. Mashaba,
  • Lisa K. Micklesfield,
  • Chodziwadziwa Kabudula,
  • Kathleen Kahn,
  • F. Xavier Gomez-Olive,
  • Stephen Tollman,
  • Ananyo Choudhury,
  • Phelelani T. Mpangase,
  • Scott Hazelhurst,
  • Kaja A. Wasik,
  • Laura Yerges-Armstrong,
  • Michèle Ramsay

摘要

Functional genomics resources are critical for interpreting human genetic studies, but currently they are predominantly from European-ancestry individuals. Here we present the South African Blood Regulatory (SABR) resource, a map of blood regulatory variation that includes three South Eastern Bantu-speaking groups. Using paired whole-genome and blood transcriptome data from over 600 individuals, we map the genetic architecture of 40 blood cell traits derived from deconvolution analysis, as well as expression, splice and cell-type interaction quantitative trait loci. We comprehensively compare SABR to the Genotype Tissue Expression Project and characterize thousands of regulatory variants only observed in African-ancestry individuals. Finally, we demonstrate the increased utility of SABR for interpreting African-ancestry association studies by identifying putatively causal genes and molecular mechanisms through colocalization analysis of blood-relevant traits from the Pan-UK Biobank. Importantly, we make full SABR summary statistics publicly available to support the African genomics community.