The APOL1 Gene

What is theAPOL1 Gene?

APOL1 (Apolipoprotein L1) is a gene that produces a protein that helps the body defend against certain parasites. In populations of African descent, certain variants of the APOL1 gene, known as the G1 and G2 risk variants, developed historically as a defense against African trypanosomiasis, also known as African sleeping sickness. However, these same variants significantly increase the risk of developing chronic kidney disease (CKD) and kidney failure.

Approximately 13% of African Americans carry both high-risk APOL1 variants (known as having two copies or being "high-risk"). This genetic configuration creates a 3–5 times greater likelihood of developing kidney failure compared to individuals without these variants.

Despite this significant risk, APOL1-mediated kidney disease is vastly underdiagnosed. Many individuals — and even many healthcare providers — are unaware of this genetic risk factor, leading to delayed intervention and worse outcomes.

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Am I at Risk?

Who Carries APOL1 Risk Variants?

The high-risk APOL1 variants are found almost exclusively in people of African descent — including African Americans, Afro-Caribbeans, and others with West or Central African ancestry. This reflects the geographic origin of the genetic variants thousands of years ago.

You may be at elevated risk if:

  • You are of African, Afro-Caribbean, or West/Central African descent
  • You have a family history of kidney disease, kidney failure, or early-onset dialysis
  • You have been diagnosed with hypertension-related kidney disease, focal segmental glomerulosclerosis (FSGS), or lupus nephritis
  • A family member has been diagnosed with APOL1-related kidney disease

Having high-risk APOL1 variants does not mean you will develop kidney disease — but it significantly elevates your risk. Early detection through genetic testing can open the door to monitoring, lifestyle adjustments, and emerging precision medicine therapies.

 

Know Your Risk — Learn About Genetic Testing

Know Your Risk -- Learn About Genetic Testing
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Disease Course, Diagnosis & Treatment

How APOL1-Mediated Kidney DiseaseProgresses

DISEASE COURSE:
  • APOL1 high-risk variants are associated with earlier onset of CKD — most patients experience disease onset before age 50.
  • Individuals with high-risk variants experience faster disease progression, often initiating dialysis nearly a decade earlier than those without the variants.
  • Early clinical signs include protein leakage in the urine (proteinuria) or declining kidney filtration rate.
  • Advanced-stage symptoms include swelling in extremities, fatigue, infrequent urination, loss of appetite, shortness of breath, and fluid retention.
DIAGNOSIS:
  • APOL1-mediated kidney disease is largely asymptomatic until it reaches advanced stages — most affected individuals do not know they have it
  • Standard CKD workup (urine test, biopsy) cannot identify APOL1 KD — a genetic test is required for diagnosis.
  • Genetic testing for APOL1 is not currently routine in nephrology practice, leading to many missed diagnoses.
TREATMENT (Current Landscape):
  • There are currently no FDA-approved targeted therapies specifically for APOL1 kidney disease.
  • Current management uses RAAS inhibitors (renin-angiotensin-aldosterone system) to slow progression, control blood pressure, and reduce proteinuria.
  • Multiple pharmaceutical companies — including Vertex Pharmaceuticals and Maze Therapeutics — are advancing targeted APOL1 therapies through clinical trials.
  • AAA actively connects patients to clinical trial opportunities and research enrollment programs.

Join a Clinical Trial — Contact Us

Join a Clinical Trial — Contact Us
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