Evidence map›Paper›PMID 40500424›Full record

ArticleNature genetics2025

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

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 and 15 more

Abstract read
In one paragraph

Article in Nature genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Review
  2. Review
  3. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

25 authors.

Stephane E CastelVariant Bio, Seattle, WA, USA. stephane@variantbio.com.ORCID http://orcid.org/0000-0002-0707-2133
Furahini D TluwaySydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Anne-Katrin EmdeVariant Bio, Seattle, WA, USA.
Natalie SmythSydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Mohd KarimVariant Bio, Seattle, WA, USA.
Dhriti SenguptaSydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.ORCID http://orcid.org/0000-0001-6315-7804
Olivia A GrayVariant Bio, Seattle, WA, USA.ORCID http://orcid.org/0000-0002-6585-9049
Melissa HendershottVariant Bio, Seattle, WA, USA.
Sarah LeBaron von BaeyerVariant Bio, Seattle, WA, USA.ORCID http://orcid.org/0009-0005-0056-6201
Erin E BurkeVariant Bio, Seattle, WA, USA.ORCID http://orcid.org/0000-0002-7559-4961
Sarah KaewertVariant Bio, Seattle, WA, USA.
Khanh-Dung H NguyenVariant Bio, Seattle, WA, USA.
Solomon S R ChomaDepartment of Pathology, University of Limpopo, Mankweng, South Africa.
Reneilwe G MashabaDIMAMO PHRC, University of Limpopo, Mankweng, South Africa.
Lisa K MicklesfieldSAMRC/Wits Developmental Pathways for Health Research Unit, School of Clinical Medicine, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.ORCID http://orcid.org/0000-0002-4994-0779
Chodziwadziwa KabudulaSAMRC/Wits University Rural Public Health and Health Transitions Research Unit, School of Public Health, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Kathleen KahnSAMRC/Wits University Rural Public Health and Health Transitions Research Unit, School of Public Health, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
F Xavier Gomez-OliveSAMRC/Wits University Rural Public Health and Health Transitions Research Unit, School of Public Health, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.ORCID http://orcid.org/0000-0002-4876-0848
Stephen TollmanSAMRC/Wits University Rural Public Health and Health Transitions Research Unit, School of Public Health, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.ORCID http://orcid.org/0000-0003-0744-7588
Ananyo ChoudhurySydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.ORCID http://orcid.org/0000-0001-8225-9531
Phelelani T MpangaseSydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.ORCID http://orcid.org/0000-0001-8280-8940
Scott HazelhurstSydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.ORCID http://orcid.org/0000-0002-0581-149X
Kaja A WasikVariant Bio, Seattle, WA, USA.
Laura Yerges-ArmstrongVariant Bio, Seattle, WA, USA.
Michèle RamsaySydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa. michele.ramsay@wits.ac.za.ORCID http://orcid.org/0000-0002-4156-4801

Funding

Shared Core: Biobanking, Bioinformatics and Data ManagementU54HG006938 · NHGRI · WITS HEALTH CONSORTIUM (PTY), LTD · PI RAMSAY, MICHELE MICHELE · 2012 to 2022
$12.2M
Integrated modeLs for Early Risk-prediction in Africa (ILERA) studyU01HL172182 · NHLBI · WITS HEALTH CONSORTIUM (PTY), LTD · PI CHOUDHURY, ANANYO · 2023 to 2025
$750k
NHGRI NIH HHS U54 HG006938NHLBI NIH HHS U01 HL172182Wellcome Trust
6 · The paper itself

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.

Indexed as

Black PeopleGenetic VariationGenome-Wide Association StudyAfrican PeopleGenome, HumanHumansPolymorphism, Single NucleotideQuantitative Trait LociSouth AfricaTranscriptomeWhite People

Identifiers

PMID40500424
PMCPMC12283414

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.