NIH Study Uncovers Key Genetic Risk Factor for Kidney Disease in West Africans
A groundbreaking study from the National Institutes of Health (NIH) has identified a significant genetic risk factor for kidney disease in individuals from Ghana and Nigeria. Research reveals that carrying just one risk variant of the **APOL1 gene** significantly increases the likelihood of developing kidney disease.
APOL1, a gene crucial for immune function, has been previously linked to an increased risk of chronic kidney disease in African Americans. However, this study delves deeper into how these genetic variants affect people of West African descent.
#### Studying Genetics and Disease
The study, conducted by the Human Heredity and Health in Africa (H3Africa) Kidney Disease Research Network, involved over 8,000 participants from Ghana and Nigeria, including nearly 5,000 individuals with chronic kidney disease and more than 800 who underwent kidney biopsies to confirm their diagnosis.
The results were impactful: nearly one-third of those studied carried APOL1 variants that increase the risk of chronic kidney disease. While these variants are most common in people of West African descent, they have also been found in individuals from Europe, Asia, Central and South America
These APOL1 risk variants are strongly linked to a rare kidney condition known as **focal segmental glomerulosclerosis**, which involves scarring of the kidney tissues.
“Findings in a particular study or with a specific ancestral group are often taken to be true for all humankind, but there is often substantial diversity even within specific ancestry or ethnic groups,” says Dr. Adeyemo. “This study highlights the importance of studying diverse populations around the globe when studying the genomics of human disease so that genomic medicine can equitably benefit people worldwide.”
#### Implications for Kidney Health Globally
Kidney disease is a serious health issue, affecting more than 1 in 7 U.S. adults. African American, Hispanic American, and Native American populations are particularly vulnerable.
**What are the risk factors for kidney disease?**
* Genetics
* Social factors: smoking, lack of exercise, unhealthy diet, lack of access to healthcare
* Diabetes and hypertension (high blood pressure)
Early stages of kidney disease often have no noticeable symptoms. As damage progresses, the kidneys lose their ability to filter blood effectively, leading to a build-up of waste products in the body. Complications can arise, including stroke, heart attacks, and problems with red blood cell production and calcium balance.
“Further research conducted with participants in the United States can help us understand how APOL1 variants affect the kidney,” says Paul Kimmel, M.D., program director at the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). “Overall, we hope that these findings can provide insight into improving the health of patients at risk for and with kidney disease.”
Reference: “APOL1 Bi- and Monoallelic Variants and Chronic Kidney Disease in West Africans” by Rasheed A. Gbadegesin, Ifeoma Ulasi, Samuel Ajayi, Yemi Raji, Timothy Olanrewaju, Charlotte Osafo, Adebowale D. Ademola, Adanze Asinobi, Cheryl A. Winkler, David Burke, Fatiu Arogundade, Ivy Ekem, Jacob Plange-Rhule, Manmak Mamven, Michael Matekole, Olukemi Amodu, Richard Cooper, Sampson Antwi, Adebowale A. Adeyemo, Titilayo O. Ilori, Victoria Adabayeri, Alexander Nyarko, Anita Ghansah, Toyin Amira, Adaobi Solarin, Olugbenga Awobusuyi, Paul L. Kimmel, Frank Chip Brosius, Muhammad Makusidi, Uzoma Odenigbo, Matthias Kretzler, Jeffrey B. Hodgin, Martin R. Pollak, Vincent Boima, Barry I. Freedman, Nicholette D. Palmer, Bernard Collins, Milind Phadnis, Jill Smith, Celia I. Agwai, Ogochukwu Okoye, Aliyu Abdu, Jillian Wilson, Winfred Williams, Babatunde L. Salako, Rulan S. Parekh, Bamidele Tayo, Dwomoa Adu and Akinlolu Ojo, 25 October 2024, New England Journal of Medicine.
DOI: 10.1056/NEJMoa2404211
The study was funded by the National Human Genome Research Institute and the National Institute of Diabetes and Digestive and Kidney Diseases.