Evidence map›Paper›PMID 37904243›Full record

ReviewGenome medicine2023

Polygenic risk scores for disease risk prediction in Africa: current challenges and future directions.

Segun Fatumo, Dassen Sathan, Chaimae Samtal, Itunuoluwa Isewon, Tsaone Tamuhla, Chisom Soremekun, James Jafali, Sumir Panji, Nicki Tiffin, Yasmina Jaufeerally Fakim

Open access · goldAbstract readReview
In one paragraph

Review in Genome medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
24citing papers in PubMed, 1 pooled it
8.5field-weighted citation impact, top 2% of its field
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

24 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.

  1. Genetic and environmental risk factors for dementia in African adults: A systematic review.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025
    Pooled it
  2. Review
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  4. Polygenic risk scores in clinical applications - opportunities and challenges.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026
    Article
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  14. Somatic and Stem Cell Bank to study the contribution of African ancestry to dementia: African iPSC Initiative.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025
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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

10 authors at 8 institutions in 7 countries.

Segun FatumoThe African Computational Genomics (TACG) Research Group, MRC/UVRI and LSHTM, Entebbe, Uganda. segun.fatumo@lshtm.ac.uk.ORCID 0000-0003-4525-3362
Dassen SathanH3Africa Bioinformatics Network (H3ABioNet) Node, University of Mauritius, Reduit, Mauritius.
Chaimae SamtalLaboratory of Biotechnology, Environment, Agri-Food and Health, Faculty of Sciences Dhar El Mahraz-Sidi Mohammed Ben Abdellah University, 30000, Fez, Morocco.
Itunuoluwa IsewonDepartment of Computer and Information Sciences, Covenant University, P. M. B. 1023, Ota, Ogun State, Nigeria.
Tsaone TamuhlaDivision of Computational Biology, Integrative Biomedical Sciences Department, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
Chisom SoremekunThe African Computational Genomics (TACG) Research Group, MRC/UVRI and LSHTM, Entebbe, Uganda.
James JafaliMalawi-Liverpool-Wellcome Trust Clinical Research Programme, Blantyre, Malawi.
Sumir PanjiComputational Biology Group, Department of Integrative Biomedical Sciences, Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, 7925, South Africa.
Nicki TiffinSouth African Medical Research Council Bioinformatics Unit, South African National Bioinformatics Institute, University of the Western Cape, Bellville, South Africa.
Yasmina Jaufeerally FakimH3Africa Bioinformatics Network (H3ABioNet) Node, University of Mauritius, Reduit, Mauritius.
South African Medical Research Council · ZAUniversity of Mauritius · MUAfrican Field Epidemiology Network · NGCovenant University · NGLondon School of Hygiene & Tropical Medicine · GBSidi Mohamed Ben Abdellah University · MAUniversity of Cape Town · ZAUniversity of Liverpool · GB

Funding

H3ABioNet: informatics solutions for H3AfricaU24HG006941 · NHGRI · UNIVERSITY OF CAPE TOWN · PI MULDER, NICOLA · 2017 to 2021
$12.9M
Polygenic Risk Score (PRS) Methods and Analysis for Populations of Diverse Ancestry - Study SitesU01HG011717 · NHGRI · UNIVERSITY OF MARYLAND BALTIMORE · PI ADEBAMOWO, SALLY NNEOMA, TAYO, BAMIDELE OLUSEGUN · 2021 to 2025
$4.6M
Medical Research Council MC_PC_22007Medical Research Council MC_PC_MR/T037733/1NHGRI NIH HHS U01 HG011717NHGRI NIH HHS U24 HG006941Wellcome TrustWellcome Trust 220740/Z/20/Z
6 · The paper itself

Abstract

Early identification of genetic risk factors for complex diseases can enable timely interventions and prevent serious outcomes, including mortality. While the genetics underlying many Mendelian diseases have been elucidated, it is harder to predict risk for complex diseases arising from the combined effects of many genetic variants with smaller individual effects on disease aetiology. Polygenic risk scores (PRS), which combine multiple contributing variants to predict disease risk, have the potential to influence the implementation for precision medicine. However, the majority of existing PRS were developed from European data with limited transferability to African populations. Notably, African populations have diverse genetic backgrounds, and a genomic architecture with smaller haplotype blocks compared to European genomes. Subsequently, growing evidence shows that using large-scale African ancestry cohorts as discovery for PRS development may generate more generalizable findings. Here, we (1) discuss the factors contributing to the poor transferability of PRS in African populations, (2) showcase the novel Africa genomic datasets for PRS development, (3) explore the potential clinical utility of PRS in African populations, and (4) provide insight into the future of PRS in Africa.

Indexed as

Black PeopleGenetic Predisposition to DiseaseAfricaGenome-Wide Association StudyHumansRisk AssessmentRisk FactorsAfricaComplex diseasesGenetic diversityGenomic architecturePolygenic risk scores

Identifiers

PMID37904243
PMCPMC10614359
OpenAlexW4388021717

What OpenQuestion holds

Textmetadata
LicenceCC BY
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 OpenQuestion graph.