南非威特沃特斯兰德大学Michèle Ramsay课题组宣布他们研制了南非人血液调节变异图谱使GWAS得以解释。相关论文于2025年6月11日发表在《自然—遗传学》杂志上。

在这里，该团队提出南非血液调节（SABR）阻力，血液调节变异的地图，包括三个东南班图语群体。利用来自600多个个体的配对全基因组和血液转录组数据，该课题组人员绘制了40个血细胞性状的遗传结构，这些性状来自反褶积分析，以及表达、剪接和细胞型相互作用的定量性状位点。研究组将SABR与基因型组织表达项目进行了全面比较，并描述了仅在非洲血统个体中观察到的调节变异的需求。最后，该研究团队证明了SABR在解释非洲血统关联研究中的实用性，通过对泛英国生物银行血液相关性状的共定位分析，确定了推定的热基因和分子机制。重要的是，该课题组人员公开了完整的SABR汇总统计数据，以支持非洲基因组学社区。

据悉，功能基因组学资源是解释人类遗传研究的关键，但目前它们主要来自欧洲血统的个体。

附：英文原文

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

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

Issue&Volume: 2025-06-11

Abstract: 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.

DOI: 10.1038/s41588-025-02223-0

Source: https://www.nature.com/articles/s41588-025-02223-0