A recent study has uncovered a major genetic risk factor for kidney disease among individuals from Ghana and Nigeria. This research highlights that possessing even a single risk variant in a gene called APOL1 can significantly elevate the likelihood of developing kidney disease. The APOL1 gene plays a crucial role in the immune system and is associated with a heightened risk of chronic kidney disease. The findings were published in the *New England Journal of Medicine*, conducted by the Human Heredity and Health in Africa (H3Africa) Kidney Disease Research Network.
A recent investigation by researchers at the National Institutes of Health (NIH), alongside their partners, has identified a major genetic risk factor for kidney disease in populations from Ghana and Nigeria. Their findings indicate that even having one risk variant in the APOL1 gene can considerably raise the chances of developing kidney disease. The APOL1 gene is vital for immune response, and its variants are connected to an increased risk of chronic kidney conditions. These results are detailed in the New England Journal of Medicine, following research from the H3Africa Kidney Disease Research Network.
Previous studies have demonstrated that genetic variants in APOL1 can heighten the risk of chronic kidney disease among African Americans. However, the impacts of these genetic variations on populations from West African nations, where many African Americans trace their ancestry, remain less understood. Researching the implications of these variants in West Africans and those with West African ancestry could also provide insights into kidney disease risks faced by many Americans.
“This research offers valuable data about West Africans, enhancing our comprehension of the chronic kidney disease risk linked to APOL1 variants,” stated Adebowale A. Adeyemo, M.B.B.S., a co-author of the study and deputy director and chief scientific officer at NIH’s National Human Genome Research Institute (NHGRI). “By contrasting our findings with previous studies focused on African Americans, we can better understand how these high-risk APOL1 variants wield their effects. Being aware of one’s genetic predisposition to conditions like kidney disease can empower individuals to make informed health choices and possibly enable earlier interventions.”
The study involved over 8,000 participants from Ghana and Nigeria, including nearly 5,000 individuals at various stages of chronic kidney disease and more than 800 subjects who underwent kidney biopsies to confirm their condition.
It was found that nearly one-third of the individuals in these two African nations possess APOL1 variants that raise their risk for chronic kidney disease. While these variants are predominantly found in people of West African origin, they have also been identified in populations across Europe, Asia, Central, and South America.
Research revealed that possessing a risk variant in one copy of the APOL1 gene escalates the risk of chronic kidney disease, challenging previous studies that indicated both copies needed to carry risk variants for an increased overall risk. A single risk variant boosts chronic kidney disease risk by 18%, while having risk variants on both copies amplifies that risk to 25%.
Moreover, these APOL1 risk variants markedly heighten the chances of developing a rare kidney disorder known as focal segmental glomerulosclerosis, characterized by scarring of kidney tissues.
“Results from specific studies or particular ancestral groups are often generalized to apply universally, even though considerable diversity exists within specific ancestry or ethnic groups,” remarks Dr. Adeyemo. “This study underscores the need for examining diverse populations worldwide in genomic research to ensure equitable benefits for all people from genomic medicine.”
Currently, over 1 in 7 adults in the U.S. are affected by chronic kidney disease—approximately 37 million Americans. The risk of developing this disease is notably higher in African American, Hispanic American, and Native American communities. Both genetic predispositions and environmental influences, including social factors like smoking, physical inactivity, poor diet, and limited healthcare access, contribute to kidney disease risks. Often, individuals with kidney disease exhibit no obvious symptoms in the early stages. Additionally, those with conditions like diabetes or high blood pressure face increased susceptibility to kidney issues. As kidney function deteriorates over time, their ability to filter blood diminishes, resulting in an accumulation of waste in the body.
As the condition worsens, further kidney functions, such as red blood cell production and the regulation of calcium levels, may become impaired. This illness can lead to serious health complications including strokes and heart attacks.
“Additional research with participants in the U.S. can clarify how APOL1 variants impact kidney health,” states Paul Kimmel, M.D., program director at the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) and a co-author of the study. “Ultimately, we aim for these insights to enhance the health outcomes for patients at risk for or living with kidney disease.”
