Polygenic risk scores for disease risk prediction in Africa: current challenges and future directions.
Africa
Complex diseases
Genetic diversity
Genomic architecture
Polygenic risk scores
Journal
Genome medicine
ISSN: 1756-994X
Titre abrégé: Genome Med
Pays: England
ID NLM: 101475844
Informations de publication
Date de publication:
30 10 2023
30 10 2023
Historique:
received:
04
03
2023
accepted:
12
10
2023
medline:
1
11
2023
pubmed:
31
10
2023
entrez:
31
10
2023
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 37904243
doi: 10.1186/s13073-023-01245-9
pii: 10.1186/s13073-023-01245-9
pmc: PMC10614359
doi:
Types de publication
Journal Article
Review
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
87Subventions
Organisme : Wellcome Trust
ID : 220740/Z/20/Z
Pays : United Kingdom
Organisme : NHGRI NIH HHS
ID : U24 HG006941
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG011717
Pays : United States
Informations de copyright
© 2023. The Author(s).
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