Researchers from the National Institutes of Health (NIH) have uncovered that a single genetic variant in the APOL1 gene notably raises the risk of chronic kidney disease (CKD) in people of West African descent. The study, carried out with support from the H3Africa Kidney Disease Research Network and published in The New England Journal of Medicine, reveals that these specific APOL1 gene variants increase the likelihood of both CKD and focal segmental glomerulosclerosis (FSGS).
While earlier research linked APOL1 genetic variants with a higher risk of CKD among African Americans, there has been limited data on their impact on individuals in West Africa—a region that shares genetic ties with many African Americans.
“This study offers valuable insights on West African populations and enhances our understanding of the APOL1 gene's role in chronic kidney disease risk,” explained Dr. Adebowale A. Adeyemo, deputy director at the NIH’s Center for Research on Genomics and Global Health. This research aims to contribute to better risk assessments for kidney disease in communities with West African heritage, which could be beneficial for many people in the U.S.
For the study, over 8,000 participants from Ghana and Nigeria were recruited, with nearly 5,000 having been diagnosed with CKD and over 800 undergoing kidney biopsies to confirm their diagnosis. Results revealed that around one-third of participants carried APOL1 variants linked to an increased risk of CKD (43% had one variant, while 29.7% had two). Notably, possessing just one APOL1 risk variant was associated with a heightened CKD risk, diverging from prior studies in African Americans that suggested two copies of the variant were necessary for elevated risk.
Beyond CKD, the study found that APOL1 variants also significantly raised the likelihood of developing FSGS, a rare kidney disorder marked by tissue scarring. Those with two APOL1 risk alleles faced an 84% higher risk of FSGS, and those with one variant had a 61% greater risk.
“Research findings from one group are often generalized, but diversity within ancestry groups can be substantial,” Dr. Adeyemo added. “This study underscores the value of studying global populations to advance equitable genomic medicine.”
Chronic kidney disease is a major health issue, affecting over 37 million adults in the U.S. alone. It is more common among African American, Hispanic American, and Native American populations, influenced by both genetic and environmental factors. CKD’s complex progression, often without clear early symptoms, highlights the importance of early detection and intervention, especially in people with diabetes or hypertension.
Dr. Paul Kimmel, program director at the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) and a co-author of the study, noted, “Research with U.S. participants will further clarify APOL1’s impact on kidney health. We hope these insights will help improve care for patients at risk of or already experiencing kidney disease.”
The study’s significance extends globally, with APOL1 variants also found in populations from Europe, Asia, and the Americas.
