If you or a family member has been diagnosed with kidney disease, you may have heard the term APOL1. This gene has become one of the most important discoveries in kidney medicine in recent decades.
What Is the APOL1 Gene?
Apolipoprotein L1, APOL1, produces a protein that destroys certain parasites in the bloodstream. Most people carry low-risk variants. However, certain high-risk variants evolved in West African populations as protection against African sleeping sickness.
Those protective variants came at a cost: people carrying two copies of the high-risk variants face a significantly elevated risk of developing focal segmental glomerulosclerosis (FSGS) and hypertension-associated kidney disease.
Who Is Most Affected?
An estimated 13% of Black Americans carry two high-risk APOL1 variants. Research shows these individuals are at 4 to 17 times greater risk of certain kidney diseases compared to people without these variants. This genetic difference contributes significantly to the well-documented disparities in kidney disease rates between Black and white Americans.
Carrying high-risk variants does not mean you will develop kidney disease, but your kidneys may be more vulnerable to triggers like infections, high blood pressure, and certain medications.
The Two High-Risk Variants
The variants most studied are called G1 and G2. Carrying one copy (heterozygous) does not significantly raise risk. Carrying two copies, homozygous G1/G1, G2/G2, or compound G1/G2, is associated with substantially higher risk.
Genetic testing can identify which variants you carry, increasingly available through nephrologists and genetic counselors.
What Is Being Done About It?
Several pharmaceutical companies are developing medications specifically designed to reduce harm caused by APOL1 high-risk variants, targeting the APOL1 protein itself to slow kidney damage at a molecular level.
NuLine Clinical Trial Center participates in APOL1-related kidney research. If you are of African descent with a personal or family history of kidney disease, you may be eligible. See our current studies or contact our team.
What You Can Do Right Now
- Ask your doctor about APOL1 genetic testing
- Monitor blood pressure carefully
- Have your eGFR and creatinine checked regularly if you are at elevated risk
- Learn about clinical trial participation