Researchers from the National Institutes of Health (NIH) have uncovered a critical genetic variant that significantly increases the risk of chronic kidney disease (CKD) in individuals of West African descent. This breakthrough, published in the *New England Journal of Medicine*, offers new hope for earlier interventions and better-targeted health strategies for populations in West Africa, as well as African Americans who share this genetic ancestry.
The study, led by the Human Heredity and Health in Africa (H3Africa) Kidney Disease Research Network, focused on the APOL1 gene, which plays a key role in immune function. Variants of this gene have been previously linked to kidney disease in African Americans, but this is the first large-scale study to explore its impact specifically in West African populations, where these variants are highly prevalent.
"These findings deepen our understanding of how APOL1 affects kidney health in populations directly descended from those in West Africa," said Dr. Adebowale A. Adeyemo, deputy director and chief scientific officer of NIH’s Center for Research on Genomics and Global Health. “By studying diverse populations, we can ensure genomic medicine benefits people worldwide and better tailor health interventions.”
The study, which included over 8,000 participants from Ghana and Nigeria, found that nearly one-third of those studied carry a high-risk APOL1 variant, significantly raising their risk of CKD. Remarkably, even a single variant of APOL1 was found to increase the risk by 18%, challenging previous research suggesting that both gene copies needed to carry the variant for elevated risk.
The genetic variant was also associated with focal segmental glomerulosclerosis (FSGS), a rare kidney disease that causes scarring in kidney tissues and is linked to poorer outcomes. This condition is particularly prevalent in individuals with two high-risk APOL1 variants.
Dr. Adeyemo stressed the importance of examining genetic risk across diverse populations to ensure that genomic medicine is inclusive and equitable. "Studying a variety of ancestral groups helps us craft genomic medicine that is impactful for global health," he added.
This discovery holds significant public health implications, particularly for West Africa and countries with large African diaspora populations. Experts suggest that genetic screening and early interventions could help reduce the incidence of kidney disease in high-risk groups, offering a preventive approach to a critical health issue that often goes unaddressed.
Article by Jed Mwangi
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