Polygenic Risk Score in African populations: progress and challenges.

Humans Genetic Predisposition to Disease Genome-Wide Association Study / methods Rare Diseases Risk Factors Multifactorial Inheritance / genetics
Africa population GWAS PRS analysis Prediction medicine post-GWAS

Journal

F1000Research
ISSN: 2046-1402
Titre abrégé: F1000Res
Pays: England
ID NLM: 101594320

Informations de publication

Date de publication:
2022
Historique:
accepted: 10 02 2023
medline: 7 6 2023
pubmed: 5 6 2023
entrez: 5 6 2023
Statut: epublish

Résumé

Polygenic Risk Score (PRS) analysis is a method that predicts the genetic risk of an individual towards targeted traits. Even when there are no significant markers, it gives evidence of a genetic effect beyond the results of Genome-Wide Association Studies (GWAS). Moreover, it selects  single nucleotide polymorphisms (SNPs) that  contribute to the disease with low effect size  making it more precise at individual level risk prediction. PRS  analysis addresses the shortfall of GWAS by taking into account the SNPs/alleles with  low effect size but play an indispensable role to the observed phenotypic/trait variance.  PRS analysis has  applications that investigate the genetic basis of several traits, which includes rare diseases. However, the accuracy of PRS analysis depends on the genomic data of the underlying population. For instance, several studies  show   that obtaining higher prediction power of PRS analysis is challenging for non-Europeans. In this manuscript, we review the conventional PRS methods and their application to sub-Saharan African communities. We conclude that  lack of sufficient GWAS data and tools is  the limiting factor of applying PRS analysis to sub-Saharan populations.   We recommend developing Africa-specific PRS methods and tools for estimating and analyzing  African population data   for clinical  evaluation of PRSs of interest and predicting  rare diseases.

Identifiants

DOI: 10.12688/f1000research.76218.2 PMID: 37273966 PMC: PMC10233318
pubmed: 37273966
doi: 10.12688/f1000research.76218.2
pmc: PMC10233318
doi:

Banques de données

Dryad
['10.5061/dryad.hdr7sqvk8']

Types de publication

Journal Article Review Research Support, N.I.H., Extramural

Langues

eng

Sous-ensembles de citation

IM

Pagination

175

Subventions

Organisme : NHGRI NIH HHS
ID : U24 HG006941
Pays : United States
Organisme : FIC NIH HHS
ID : U2R TW010679
Pays : United States

Informations de copyright

Copyright: © 2023 Adam Y et al.

Déclaration de conflit d'intérêts

No competing interests were disclosed.

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Auteurs

Yagoub Adam (Y)

Covenant University Bioinformatics Research (CUBRe), Covenant University, Ota, Ogun State, 112212, Nigeria.
ORCID: 0000-0001-6874-2543

Suraju Sadeeq (S)

Covenant Applied Informatics and Communication Africa Centre of Excellence (CApIC-ACE), Covenant University, Ota, Ogun State, 112212, Nigeria.
Dept Computer & Information Sciences, Covenant University, Ota, Ogun State, 112212, Nigeria.

Judit Kumuthini (J)

South African National Bioinformatics Institute, Life Sciences Building, University of Western Cape, Cape Town, South Africa.
Centre for Proteomic and Genomic Research, Cape Town, Western Cape, South Africa.

Olabode Ajayi (O)

South African National Bioinformatics Institute, Life Sciences Building, University of Western Cape, Cape Town, South Africa.
Centre for Proteomic and Genomic Research, Cape Town, Western Cape, South Africa.

Gordon Wells (G)

South African National Bioinformatics Institute, Life Sciences Building, University of Western Cape, Cape Town, South Africa.
Centre for Proteomic and Genomic Research, Cape Town, Western Cape, South Africa.

Rotimi Solomon (R)

Covenant University Bioinformatics Research (CUBRe), Covenant University, Ota, Ogun State, 112212, Nigeria.
Covenant Applied Informatics and Communication Africa Centre of Excellence (CApIC-ACE), Covenant University, Ota, Ogun State, 112212, Nigeria.
Dept of Biochemistry, Covenant University, Ota, Ogun State, 112212, Nigeria.

Olubanke Ogunlana (O)

Covenant University Bioinformatics Research (CUBRe), Covenant University, Ota, Ogun State, 112212, Nigeria.
Covenant Applied Informatics and Communication Africa Centre of Excellence (CApIC-ACE), Covenant University, Ota, Ogun State, 112212, Nigeria.
Dept of Biochemistry, Covenant University, Ota, Ogun State, 112212, Nigeria.
ORCID: 0000-0001-5781-592X

Emmanuel Adetiba (E)

Covenant Applied Informatics and Communication Africa Centre of Excellence (CApIC-ACE), Covenant University, Ota, Ogun State, 112212, Nigeria.
Dept of Electrical & Information Engineering (EIE), Covenant University, Ota, Ogun State, 112212, Nigeria.
HRA, Institute for Systems Science, Durban University of Technology, Durban, South Africa.

Emeka Iweala (E)

Covenant Applied Informatics and Communication Africa Centre of Excellence (CApIC-ACE), Covenant University, Ota, Ogun State, 112212, Nigeria.
Dept of Biochemistry, Covenant University, Ota, Ogun State, 112212, Nigeria.

Benedikt Brors (B)

Applied Bioinformatics Division, German Cancer Research Center (DKFZ), Heidelberg, 69120, Germany.
German Cancer Consortium (DKTK), Heidelberg, Germany.

Ezekiel Adebiyi (E)

Covenant University Bioinformatics Research (CUBRe), Covenant University, Ota, Ogun State, 112212, Nigeria.
Covenant Applied Informatics and Communication Africa Centre of Excellence (CApIC-ACE), Covenant University, Ota, Ogun State, 112212, Nigeria.
Dept Computer & Information Sciences, Covenant University, Ota, Ogun State, 112212, Nigeria.
Applied Bioinformatics Division, German Cancer Research Center (DKFZ), Heidelberg, 69120, Germany.
ORCID: 0000-0002-1390-2359

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Polygenic Risk Score in African populations:...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › Polygenic Risk Score in African populations:...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Épidémiologie moléculaire › Étude d'association pangénomique › Polygenic Risk Score in African populations:...
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Caractéristiques de la maladie › Maladies rares › Polygenic Risk Score in African populations:...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Statistiques comme sujet › Probabilité › Risque › Facteurs de risque › Polygenic Risk Score in African populations:...
questionsmedicales.fr › Phénomènes génétiques › Modes de transmission héréditaire › Hérédité multifactorielle › Polygenic Risk Score in African populations:...