# Genome-wide association studies on malaria in Sub-Saharan Africa: A scoping review

**Authors:** Morine Akoth, John Odhiambo, Bernard Omolo

PMC · DOI: 10.1371/journal.pone.0309268 · PLOS One · 2025-05-16

## TL;DR

This review maps genome-wide studies on malaria in Sub-Saharan Africa, highlighting a need for more research.

## Contribution

The study provides a comprehensive overview of GWAS on malaria in SSA, identifying gaps in research.

## Key findings

- 89 studies on malaria GWAS were identified in Sub-Saharan Africa between 2000 and 2024.
- Most studies used case-control designs and focused on genetic variants related to malaria susceptibility and resistance.
- Research is concentrated in Kenya and Gambia, with a notable increase in publications since 2012.

## Abstract

Background: Malaria remains one of the leading causes of death in Sub-Saharan Africa (SSA). The scoping review mapped evidence in research on existing studies on malaria genome-wide association studies (GWAS) in SSA.

Methods: A scoping review was conducted to map existing studies in genome-wide association on malaria in SSA, with a review period between 1st January 2000 and 31st December 2024. The searches were made with the last search done in January 2025. The extracted data were analyzed using R software and SRplot. Relevant studies were identified through electronic searching of Google Scholar, Pubmed, Scopus, and Web of Science databases. Two independent reviewers followed the inclusion-exclusion criteria to extract relevant studies. Data from the studies were collected and synthesized using Excel and Zotero software.

Results: We identified 89 studies for inclusion. Most of these studies (n = 42, 47%) used a case-control study design, while the rest used cross-sectional, cohort, longitudinal, family-based, and experimental study designs. These studies were conducted between 2000 and 2024, with a noticeable increase in publications from 2012. Most studies were carried out in Kenya (n = 23), Gambia (n = 18), Cameroon (n = 15), and Tanzania (n = 9), primarily exploring genetic variants associated with malaria susceptibility, resistance, and severity.

Conclusion: Many case-control studies in Kenya and Gambia reported genetic variants in malaria susceptibility, resistance, and severity. GWAS on malaria is scarce in SSA, and even fewer studies are model-based. Consequently, there is a pressing need for more genome-wide research on malaria in SSA.

Keywords: Genome-wide association studies, malaria, Sub-Saharan Africa, scoping review.

## Linked entities

- **Diseases:** malaria (MONDO:0005136)

## Full-text entities

- **Genes:** G6PD (glucose-6-phosphate dehydrogenase) [NCBI Gene 2539] {aka CNSHA1, G6PD1}
- **Diseases:** sickle cell anemia (MESH:D000755), death (MESH:D003643), Malaria (MESH:D008288), Infectious Diseases (MESH:D003141)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** rs149085856, rs2967790, rs5488069, rs4898389, rs12946796, rs16942900, rs2949632, rs8109875, rs453079, rs6675815, rs3821869, rs11013140, rs17640520, rs1384057, rs1050828, rs7123288, rs334, -592 C/A, rs2046784, rs9296359, rs2515905, rs16957052, rs10757705, rs915942, rs12405994, rs971990, rs17728971, rs10890361, rs10905522, rs316414, rs113449872, rs7694946, rs915941, rs7879049, rs10192428, rs17624383, -308 G/A, rs762515, rs6682413, rs10249420, rs3832816, rs144312177, rs11679441

## Full text

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## Figures

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## References

124 references — full list in the complete paper: https://tomesphere.com/paper/PMC12083797/full.md

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Source: https://tomesphere.com/paper/PMC12083797