A landmark genetic study involving over 110,000 people of African ancestry has discovered new gene variants associated with kidney function. This research, the largest of its kind on the continent, offers new opportunities for earlier diagnosis and improved treatment of kidney disease across Africa.
Published in Nature Communications, the study was led by the KidneyGenAfrica Consortium, bringing together scientists from Eastern, Western, and Southern Africa, as well as African-ancestry populations in the diaspora. Researchers analysed genetic data from roughly 26,000 Africans living on the continent and more than 81,000 individuals abroad to explore how genetics influence kidney function.
“Kidney disease disproportionately affects populations of African ancestry, yet most genetic studies have focused on Europeans,” the study notes, highlighting a major gap in research.
The team conducted a genome-wide association study (GWAS) examining estimated glomerular filtration rate (eGFR), a key indicator of kidney health. Their analysis identified multiple new gene regions, or loci, associated with kidney function in African populations. In a meta-analysis of continental African data, four independent loci reached genome-wide significance, including two previously unreported variants. When combining data from Africa and the diaspora, 19 loci were identified, three of which had not been reported before.
Several of these variants are common in African populations but rare or absent in Europeans and Asians, emphasizing the unique genetic diversity of the continent. The study also explored the APOL1 gene, long linked to kidney disease risk among African Americans. Researchers found that high-risk APOL1 variants are less frequent and have weaker effects in continental African populations, suggesting distinct genetic mechanisms.
The study additionally tested polygenic scores—tools that estimate disease risk based on multiple genes—and found that scores derived from genetically similar African populations were far more accurate than those developed from distant cohorts.
“These findings demonstrate the necessity of conducting genomic research across diverse African populations to enable equitable health outcomes,” the researchers wrote.