HQ Team
October 29, 2024: Researchers have found genomic variants in one-third of people from the West African countries of Ghana and Nigeria that significantly increase the risk of developing kidney diseases.
A study by researchers from the Human Heredity and Health in Africa (H3Africa) Kidney Disease Research Network revealed that having one risk variant in a gene known as APOL1 can result in chronic kidney disease.
These risk variants also drastically increase the likelihood of developing a rare kidney condition called focal segmental glomerulosclerosis, which is scarring of the kidney tissues.
The APOL1 gene is important for the body’s immune system, and its variants pose a danger to the body. Previous research among African Americans has linked the faulty gene to kidney diseases, but no study was done in West Africa, where many African Americans derive their ancestry.
More than 8,000 people from Ghana and Nigeria participated in the study, including nearly 5,000 people with chronic kidney disease of various stages and more than 800 people who had kidney biopsies that confirmed their disease.
Other regions
The study found that nearly one-third of individuals in these two nations carry APOL1 variants that increase the risk of chronic kidney disease, according to a statement from the National Institutes of Health.
While these variants are seen most often in people of West African descent, other studies have found these variants in people from Europe, Asia, and Central and South America.
“Our study provides data about West Africans that will help us better understand the risk of chronic kidney disease associated with APOL1 variants,” said Adebowale A. Adeyemo, MBBS, who is a co-author of the study and is the deputy director and chief scientific officer of the Center for Research on Genomics and Global Health at NIH’s National Human Genome Research Institute (NHGRI).
“By comparing this study to previous studies involving the African American population, we can gain a deeper understanding of the effects of these high-risk APOL1 variants.
“Knowing your genetic risk for a disease, such as kidney disease, can help you make more informed decisions about your health and potentially lead to earlier interventions,” he said.
Risk variant in one copy enough
Having a risk variant in one copy of the APOL1 gene increases the risk of developing chronic kidney disease, contrary to previous studies in the African American population suggesting that both copies of APOL1 needed to contain such variants to increase the overall risk.
One risk variant increases the risk of chronic kidney disease by 18%, while two risk variants, one on each copy of APOL1, increase the risk by 25%.
“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,” said 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.”
Stroke, heart attack
People with kidney disease may not have noticeable symptoms in the early stages of the disease. Additionally, for people with diabetes or hypertension, there is a greater risk of developing kidney disease.
As the kidneys are slowly damaged over time, they are unable to filter blood properly, leading to a buildup of waste in the body.
As the disease progresses, additional kidney functions are affected, such as stimulating red blood cell production and maintaining the body’s calcium balance. The disease can lead to other health issues such as stroke and heart attacks.
The NHGRI is one of the 27 institutes and centres at the National Institutes of Health, an agency of the Department of Health and Human Services in the US.
The NHGRI Division of Intramural Research develops and implements technology to understand, diagnose and treat genomic and genetic diseases.
