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Polygenic risk scores for disease risk prediction in Africa

Fatumo, S. and Sathanandam, T. and Samtal, Chaimae and Isewon, Itunuoluwa and Tamuhla, Tsaone and Soremekun, Opeyemi S. and Jafali, James and Panji, Sumir and Tiffin, Nikki and Fakim, Jaufeerally Yasmina (2023) Polygenic risk scores for disease risk prediction in Africa. Polygenic risk scores for disease risk prediction in Africa, 15 (87).

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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.

Item Type: Article
Uncontrolled Keywords: Polygenic risk scores  Africa  Genetic diversity  Genomic architecture  Complex diseases
Subjects: Q Science > QA Mathematics > QA75 Electronic computers. Computer science
R Medicine > RA Public aspects of medicine > RA0421 Public health. Hygiene. Preventive Medicine
Divisions: Faculty of Engineering, Science and Mathematics > School of Electronics and Computer Science
Faculty of Medicine, Health and Life Sciences > School of Biological Sciences
Depositing User: Patricia Nwokealisi
Date Deposited: 06 Aug 2024 09:59
Last Modified: 06 Aug 2024 09:59
URI: http://eprints.covenantuniversity.edu.ng/id/eprint/18363

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