Two APOL1 Variants on a 23andMe Test: What Chronic Kidney Disease (APOL1-Related) Risk Actually Means

Two APOL1 Variants on a 23andMe Test: What Chronic Kidney Disease (APOL1-Related) Risk Actually Means

This article is for educational purposes only. It is not a substitute for advice from a licensed physician, board-certified medical geneticist, or board-certified genetic counselor. For any decisions about testing, treatment, or care, consult a qualified clinician. In emergencies, call 911.

Bottom line: A 23andMe “variant detected” result for Chronic Kidney Disease (APOL1-Related) means two copies of the G1 or G2 risk variants turned up in your APOL1 gene. Carrying two copies is often called being a “two-variant carrier.” That simply means someone inherited one risk variant from each parent. This is a real, well-studied risk factor. It is not a diagnosis. Research shows that most two-variant carriers never develop clinically significant kidney disease in their lifetime. Disease usually needs an extra trigger on top of the genetic risk, such as a viral infection. No drug is yet FDA-approved specifically for this mechanism. A treatment called inaxaplin showed promising early trial results. Standard kidney care already helps, regardless of APOL1 status.

What you’ll learn

• Why APOL1 risk comes from two specific gene variants, not one classic mutation, and why that pattern evolved in West African-descended populations
• How to translate a “two-variant” genetic result into an honest sense of real-world risk, instead of a certainty
• What a 23andMe report can and cannot tell you compared with the actual kidney tests a doctor orders
• Why no APOL1-targeted drug is FDA-approved yet, and what that means for treatment today

How APOL1-Related Kidney Disease Is Inherited: Two Risk Variants, Not One Broken Gene

Some genetic kidney diseases come from a single rare mutation passed down in a simple pattern. APOL1-related kidney disease works differently.

APOL1 is one gene on chromosome 22. It normally helps protect podocytes, tiny cells that form the kidney’s filtering barrier. Disease risk does not come from a random, one-off mutation. It comes from two specific variants that change how the APOL1 protein behaves:

• G1: combines two coding changes, written as S342G and I384M
• G2: a small deletion of two amino acids, written as N388del/Y389del

Both variants are common, not rare, in people with West African ancestry.

The inheritance pattern works something like an autosomal-recessive condition. That means a person generally needs two copies of a risk variant, not just one, to be at meaningfully higher risk. Scientists usually call it a risk-variant pattern rather than a classic Mendelian disease. A person needs two risk variants, in some combination, G1/G1, G2/G2, or one of each, to fall into the high-risk group. Researchers call this group “two-variant carriers” — people who carry two copies of a risk variant, whether the same one twice or one of each. Carrying only one risk variant does not put someone in that same higher-risk group.

This pattern exists for a reason that surprises many readers. G1 and G2 rose in frequency in West African populations because they gave some protection against Trypanosoma brucei rhodesiense, the parasite that causes African sleeping sickness. Researchers first identified this connection in a landmark 2010 study. That paper remains the foundational research on APOL1 kidney risk. It is a textbook example in human genetics: a variant that helped survival against one disease while raising risk for another, centuries later, once the original threat had mostly disappeared.

Think of it like a lock that changed shape long ago to keep out one specific intruder. That new shape worked well against the original threat. Decades later, under the right conditions, it also lets in a different kind of trouble.

Because this is a risk-variant pattern and not one dramatic mutation, a genetic counselor can help explain how G1 and G2 combine in your specific case. A genetic counselor is a healthcare professional trained to explain genetic test results and family risk in plain language. Ask about this before or after any DNA test result arrives.

It also helps to be clear about what APOL1 is not. It is not a rare disease gene in the way some inherited kidney conditions are, where a single family carries a private mutation found nowhere else. G1 and G2 are common variants. They are present in a meaningful share of an entire ancestry group. That population-level pattern is part of why large-scale research on APOL1 has been possible. It is also why APOL1 risk gets discussed differently from an ultra-rare inherited kidney syndrome that affects only a handful of families worldwide.

Section recap: APOL1 risk comes from two specific variants, G1 and G2, in a recessive-like pattern that needs two risk alleles. These variants likely rose in frequency because they protected against African sleeping sickness, which explains why risk concentrates in people of West African ancestry.

From a 13% Carrier Rate to Your Actual Risk: Why Most Two-Variant Carriers Never Get Sick

A “variant detected” result can sound alarming without context. Here is the context.

An estimated 13% of African Americans carry two APOL1 risk variants, the genotype group linked to higher kidney disease risk. That means roughly 13 out of every 100 African Americans fall into this higher-risk group. That is true whether or not they ever develop symptoms. It describes a starting population, not a diagnosis for any one person in it.

Studies comparing two-variant carriers with people who carry zero or one risk variant found clear differences:

• Substantially higher rates of focal segmental glomerulosclerosis (FSGS), a scarring pattern in the kidney’s filters
• Faster progression toward kidney failure once kidney disease is already present
• Yet the large majority of two-variant carriers still never develop clinically significant kidney disease during their lifetime

The first two findings are real and have been replicated across studies. The third point matters just as much: carrying the genotype raises the odds, but it does not set the outcome.

The reason for that gap is what researchers call the “second hit” model. Genetic susceptibility from APOL1 typically needs an added trigger to unmask kidney injury. HIV infection is the best-studied example. Two-variant carriers who acquire HIV face a much higher risk of a severe kidney condition called HIV-associated nephropathy than two-variant carriers who never contract HIV. COVID-19, interferon-based medications, and other inflammatory triggers have been linked to similar patterns. Without that second hit, most carriers’ kidneys work normally for decades.

This helps explain a pattern many Black families notice: one sibling develops kidney failure while another, with a similar family history, never does. Shared genetic background sets a shared starting point. It does not guarantee a shared outcome, because the second hit differs from person to person.

A useful comparison is a smoke detector on a wall. The detector being present does not mean a fire will start. It means that if a fire does start, something is in place to react to it. APOL1 risk works the same way. It changes what happens if a trigger occurs. It does not decide whether one definitely will.

Ask your primary care physician or a nephrologist to walk through your personal and family risk factors alongside your genetic result. Reading the result alone leaves out too much context.

It is also worth naming the population-level side of this honestly. Roughly 13 out of 100 African Americans carry two risk variants. That is part of why Black Americans experience higher overall rates of kidney failure than white Americans. That population-level burden is real and documented. It exists alongside, not instead of, the individual-level truth that most two-variant carriers personally stay healthy. Both statements are true at the same time. Confusing one for the other, in either direction, misrepresents the science.

Section recap: About 13 out of 100 African Americans carry two APOL1 risk variants, but the large majority never develop clinically significant kidney disease. Disease usually requires an added “second hit,” such as HIV infection, on top of the genetic risk.

DNA Test vs. Diagnosis: What 23andMe Detects vs. What a Nephrologist Actually Checks

A genetic test and a kidney diagnosis answer two very different questions.

The 23andMe Health Predisposition report for Chronic Kidney Disease (APOL1-Related) looks specifically for the G1 and G2 haplotypes in your DNA. It tells you your genetic risk category. It does not measure how your kidneys are functioning right now. It was never designed to.

The table below shows how the two approaches differ:

	DTC genetic test (e.g. 23andMe)	Clinical diagnostic workup
What it measures	G1/G2 variant status in your DNA	Current kidney function and damage
Key tests	One saliva sample	Urine ACR, blood eGFR, blood pressure, sometimes biopsy
Can it diagnose CKD?	No	Yes, when combined with clinical judgment
Who orders it	You, directly	A physician, often after a referral
Typical cost	One-time out-of-pocket purchase	Usually covered by insurance or a provincial plan

The actual clinical workup starts with a urine test measuring the albumin-to-creatinine ratio (ACR). This detects protein leaking into urine, an early sign of kidney filter damage. It also includes a blood test to estimate glomerular filtration rate (eGFR), a measure of how well the kidneys clear waste. Blood pressure is checked too, since high blood pressure both damages kidneys and results from kidney damage. When proteinuria is significant, a kidney biopsy, read by a pathologist under a microscope, can confirm a diagnosis like FSGS directly.

Nephrologists are also increasingly ordering APOL1 genotyping directly, separate from any consumer DNA kit. They do this for two main reasons: to help explain unexplained proteinuric kidney disease, and as part of evaluating potential living kidney donors. These clinician-ordered tests are typically covered by health insurance or provincial health plans, unlike a direct-to-consumer kit.

Picture the difference like a home water-testing strip versus a full laboratory water analysis. The strip gives a quick, useful signal about one thing. The full analysis tells you what is actually happening and what to do about it.

If you received a 23andMe “variant detected” result and have not had a urine ACR or eGFR test recently, treat that as a reason to schedule a visit. It is not a stopping point.

Cost and access are part of this comparison too, beyond what the table shows. A direct-to-consumer kit is a one-time purchase a person orders on their own schedule. The clinical workup usually needs a referral or a primary care visit instead. The individual tests are routine and inexpensive. They are generally covered by insurance or a provincial health plan when a physician orders them for a documented reason, such as family history. That is one more reason a genetic result works best as a prompt for a covered clinical visit, not a stand-alone answer.

Section recap: A 23andMe report detects the G1/G2 genetic risk variants only. An actual CKD or FSGS diagnosis requires urine ACR testing, blood eGFR testing, and blood pressure checks. Sometimes it also requires a kidney biopsy — a clinical evaluation a DNA kit cannot replace.

Reading Your Result: Variant Carrier Status, an Actual CKD Diagnosis, and What Stays Uncertain

Once you know a DNA result and a diagnosis are different things, the next question is what each one actually means for you.

Three categories matter here, and mixing them up causes most of the confusion:

• Variant detected (two-variant) result — reports genetic risk status only, not current kidney health
• Actual CKD or FSGS diagnosis — comes only from the lab and imaging workup described above
• Genuinely uncertain findings — some results, on either side, do not yet have a clear answer

A “variant not detected,” or one-variant, result does not fully clear someone of kidney disease risk. Diabetes, high blood pressure, and other kidney conditions remain common causes of CKD regardless of APOL1 status. A negative or low-risk APOL1 result is not a green light to skip a checkup if urine or blood pressure results look abnormal.

The reverse also holds. A two-variant result in someone with completely normal urine ACR and eGFR does not mean kidney disease is present now. It means a higher-risk genetic background exists. That is a reason for more attentive monitoring going forward, not a current diagnosis.

This gap between a genetic result and a diagnosis matters most for people with a strong family history. Consider someone whose mother and brother both experienced kidney failure. That family pattern is a real, useful signal on its own. It does not mean the same rapid course is guaranteed. The second-hit trigger that unmasked disease in a parent or sibling may or may not ever occur for another family member.

Think of a two-variant result as a weather forecast showing higher storm probability for the season. It is not a report that a storm is already overhead. It changes how closely you watch the sky. It does not mean you need an umbrella today.

Bring any 23andMe result, high-risk or not, to a primary care physician or nephrologist. It should be read alongside your actual lab values and family history, not interpreted alone.

Section recap: A genetic result, a clinical diagnosis, and genuine uncertainty are three separate categories. Neither a “variant detected” nor a “variant not detected” result on its own confirms or rules out current kidney disease; only lab testing can do that.

Prevention and Surveillance: What Actually Protects Your Kidneys Today

The APOL1 variants themselves cannot be removed or prevented. What can change is how closely kidney health gets watched and managed.

Current nephrology practice for people known to carry two APOL1 risk variants centers on a few concrete steps:

• Regular screening: periodic urine ACR and eGFR testing, often annually, to catch protein leakage or declining kidney function early
• Blood pressure control: RAAS blockade (ACE inhibitor or ARB medications) when proteinuria is present, to reduce strain on kidney filtering units
• Newer drug options: SGLT2 inhibitors such as dapagliflozin, FDA-approved in 2021 to slow kidney function decline in CKD, including non-diabetic proteinuric forms
• Avoiding known triggers: HIV prevention and prompt treatment, since HIV is the best-documented second-hit trigger for genetically susceptible people

The CDC recommends this kind of routine screening generally for populations at elevated CKD risk. That includes people with APOL1 risk variants and a family history of kidney failure.

Certain interferon-based medications carry similar second-hit risk. They warrant a conversation with a prescribing physician about alternatives.

None of this eliminates the underlying genetic susceptibility. The practical value of knowing a two-variant result is earlier, more consistent monitoring. It also means a faster response to warning signs. It is not primary prevention of the variant itself.

A helpful comparison is a family history of glaucoma. The genetic risk cannot be erased. More frequent eye pressure checks catch problems while they are still treatable, rather than after vision loss has occurred.

Ask a primary care physician or nephrologist how often urine and blood testing should happen, given your specific genetic and family history. Do not assume a one-size-fits-all schedule applies.

None of this needs to wait for a formal diagnosis or a documented complication. A family history of dialysis is, on its own, a reasonable reason to ask for baseline ACR and eGFR testing at a next physical. The same is true for an unexplained finding, like protein in a routine urine test, similar to what prompted a sibling’s FSGS diagnosis in some families. Earlier baseline testing gives a doctor something concrete to compare future results against, rather than starting from zero once symptoms appear.

Section recap: The APOL1 variants cannot be prevented. But regular urine ACR and eGFR screening, blood pressure control with RAAS blockade, and avoiding known triggers like HIV meaningfully protect kidney health in two-variant carriers.

Current Treatment Landscape for APOL1-Mediated Kidney Disease, and Its Regulatory Status

Here is a fact worth stating plainly: no drug carries FDA approval specifically for the APOL1 mechanism itself, as of this article’s writing.

Standard CKD care remains the backbone of treatment regardless of APOL1 status. The table below summarizes where things stand:

Treatment	What it does	Regulatory status
RAAS blockade (ACE inhibitors/ARBs)	Lowers blood pressure and proteinuria	Long-established standard of care
SGLT2 inhibitors (e.g. dapagliflozin)	Slows kidney function decline	FDA-approved 2021-04-30 for CKD; Health Canada separately authorized dapagliflozin (marketed in Canada as FORXIGA) for CKD in 2021
Inaxaplin (VX-147)	Targets the APOL1 mechanism directly	Investigational only; not approved by the FDA or Health Canada

Standard care includes RAAS blockade for blood pressure and proteinuria control. It also includes blood sugar management for anyone with diabetes. SGLT2 inhibitors such as dapagliflozin round out the standard toolkit. The FDA approved dapagliflozin on 2021-04-30 specifically to slow kidney function decline in chronic kidney disease. Health Canada separately authorized dapagliflozin for chronic kidney disease in 2021, based on the same DAPA-CKD trial evidence.

A mechanism-specific drug is under active study. Inaxaplin (VX-147) was tested in a phase 2a trial published in the New England Journal of Medicine on 2023-03-16. Thirteen participants with two APOL1 variants and biopsy-confirmed FSGS completed the 13-week primary analysis. The trial met its main goal: a mean 47.6% reduction in urinary protein-to-creatinine ratio, a marker of kidney filter damage, by week 13. No participants stopped the drug due to a serious side effect. That is a meaningful early signal. But a 13-person study is small, and it does not equal regulatory approval.

A larger follow-up trial is underway. The adaptive phase 2/3 AMPLITUDE trial (NCT05312879) is enrolling roughly 466 participants globally. All have two APOL1 variants and proteinuric kidney disease. The trial is testing whether inaxaplin slows the rate of eGFR decline compared with placebo. Interim data supported a 45 milligram once-daily dose for the phase 3 portion. The trial’s sponsor reported completing enrollment of its interim-analysis group in a September 2025 announcement. Inaxaplin remains investigational. It has not received FDA approval, and no timeline for approval is yet known.

The KDIGO 2024 international kidney guideline explicitly supports genetic testing, including APOL1 genotyping, for figuring out the cause of unexplained proteinuric kidney disease. That guideline still recommends RAAS blockade and SGLT2 inhibitors as backbone therapy, regardless of what a genetic test finds.

Think of current APOL1 treatment like a building under active construction. A promising blueprint is already drawn, but no finished, approved structure exists yet to move into. Standard kidney care is the reliable shelter available right now.

Discuss any interest in clinical trial enrollment directly with a nephrologist. Eligibility criteria for trials like AMPLITUDE are specific and change over time.

It is worth being specific about why the AMPLITUDE trial matters beyond its size. A 13-person phase 2a study, like the one that tested inaxaplin in 2023, can show a real biological signal. It showed a meaningful drop in urinary protein. But it cannot show whether that signal translates into slower long-term kidney failure across a broader population. AMPLITUDE is designed specifically to answer that harder question. It uses eGFR-slope decline, a direct measure of long-term kidney function loss, as its outcome. It tests this across hundreds of participants rather than a dozen. That is the kind of evidence regulators like the FDA typically require before approving a new mechanism-specific drug.

Section recap: No drug is FDA- or Health Canada-approved for the APOL1 mechanism itself. Standard CKD care, including SGLT2 inhibitors like dapagliflozin (FDA-approved 2021, Health Canada-authorized 2021), remains the current standard. Inaxaplin shows promising but still investigational early trial results.

Family Implications: Cascade Risk for Your Children and Living-Kidney-Donor Evaluation

APOL1 risk does not spread through families the way a simple dominant condition does. That changes what family guidance should look like.

The risk pattern behaves like an autosomal-recessive condition. If one parent carries two APOL1 risk variants, every child of that parent is an obligate carrier of at least one risk variant. Whether a child ends up in the higher-risk two-variant group depends on the other parent’s carrier status too. This is not a simple 50% risk to each child, the way some single-gene conditions work. Actual genetic testing of children, guided by a genetic counselor, gives a real answer. Assuming a specific percentage does not.

Two family scenarios deserve special attention:

• Cascade testing for children: an adult child of a two-variant parent already carries at least one risk variant by definition. Only the child’s own testing, ideally with genetic counseling, shows whether they carry two
• Living kidney donation: APOL1 genotyping is increasingly built into donor risk evaluation, particularly for Black donor candidates. Two-variant donors face measurably higher long-term kidney-failure risk after donating

Transplant centers and national organ-allocation policy have been formalizing guidance around this in recent years. They treat APOL1 genotype as one input into donor counseling, not an automatic disqualification.

For someone evaluating whether to donate a kidney to a family member, an APOL1 result changes the conversation. It does not necessarily end it. A transplant team can walk through what a two-variant genotype means specifically for donor safety in that person’s individual case.

A useful comparison is a home inspection before buying a house next to a floodplain. The inspection does not forbid the purchase. It gives specific, actionable information that changes how the decision gets made.

Bring any known APOL1 result to a transplant evaluation team early, if kidney donation is being considered. Do not wait until later in the process.

For adult children specifically, the practical starting point is usually awareness, not immediate testing. An adult child of a two-variant parent already knows they carry at least one risk variant, by definition. Whether they carry two, and fall into the higher-risk group themselves, is a separate question. Only their own testing, ideally with genetic counseling support, can answer it. Sharing a parent’s or sibling’s APOL1 result at a next physical gives a physician useful context, even without testing yet. That context helps guide that adult child’s own kidney health monitoring going forward.

Section recap: APOL1 risk in children depends on both parents’ carrier status, not a simple fixed percentage, and genetic testing gives real answers where assumptions cannot. APOL1 genotyping is also increasingly part of living-kidney-donor risk evaluation, especially for Black donor candidates.

GINA, Insurance Gaps, and the Psychosocial Weight of a Race-Linked Genetic Result

Beyond the biology, an APOL1 result raises two other real concerns: legal protection, and how it feels to receive this kind of information.

Here is how legal protections compare in the US and Canada:

• United States (GINA, 2008): blocks employers and health insurers from using genetic results, including APOL1 status, to discriminate
• GINA’s gap: does not extend to life insurance, disability insurance, or long-term-care insurance
• Canada (Genetic Non-Discrimination Act, 2017): blocks insurers from requiring genetic testing or disclosure as a condition of coverage, upheld as constitutional by the Supreme Court of Canada in 2020

In the United States, GINA prohibits employers and health insurers from using a genetic result, including APOL1 status, to discriminate. Employers cannot factor it into hiring or firing decisions. Health insurers cannot use it to deny coverage or raise premiums.

GINA has a real, documented gap worth knowing before testing, or before disclosing a result for underwriting purposes. Its protections do not extend to life insurance, disability insurance, or long-term-care insurance. Those insurers may still be able to consider a genetic result in many circumstances.

Canadian readers have a broader federal protection. The Genetic Non-Discrimination Act, passed in 2017, makes it an offense to require genetic testing or disclosure of results as a condition of providing goods, services, or contracts. That includes many insurance contexts. The Supreme Court of Canada upheld this law as constitutional in 2020.

The psychosocial dimension deserves equal attention. APOL1 risk is concentrated by ancestry. That can bring added weight for Black readers navigating a family history of dialysis or kidney failure, alongside broader, well-documented historical mistrust of genetic research in Black communities. Deciding whether and how to disclose a result to siblings, parents, or adult children is a real, sometimes difficult, family conversation. It is not a small detail.

A genetic counselor can help with exactly this kind of conversation, covering both the science and the family-disclosure side of it. You can find one through the National Society of Genetic Counselors at NSGC.org.

Think of GINA and Canada’s law as solid roofs that still leave some walls exposed. They cover real, important ground. Knowing exactly where the coverage stops matters before a decision involving other kinds of insurance comes up.

Talk with a primary care physician or a genetic counselor about both the medical and emotional sides of an APOL1 result. Neither the insurance questions nor the family-disclosure decisions need to be sorted out alone.

There is no single right way to have a family disclosure conversation, and that is worth saying out loud. Some families find it easiest to share a result directly and factually, focused on next steps like screening. Others prefer to process it privately first before bringing it to siblings or adult children. Either approach is reasonable. What tends to help most, according to genetic counseling practice generally, is treating the conversation as ongoing rather than a single announcement. Questions and reactions often surface over weeks or months, not all at once.

Section recap: GINA (US) and the Genetic Non-Discrimination Act (Canada) both block genetic discrimination in employment and health insurance, but neither covers life, disability, or long-term-care insurance. The psychosocial weight of a race-linked result is real and worth discussing with a genetic counselor.

Frequently asked questions

If my 23andMe result shows two APOL1 risk variants, does that mean I will definitely get kidney disease?

No. A two-variant result places you in a higher-risk genetic group. But research shows that most two-variant carriers never develop clinically significant kidney disease in their lifetime. Disease usually requires an added trigger, such as HIV infection, on top of the genetic risk.

Will my children inherit this APOL1 risk from me?

Every child of a two-variant parent is an obligate carrier of at least one risk variant. But whether a child ends up in the higher-risk two-variant group also depends on the other parent’s carrier status. This is not a simple 50% risk per child. Genetic testing, guided by a counselor, gives an actual answer.

Could a positive APOL1 result affect my health or life insurance?

In the US, GINA blocks health insurers and employers from using a genetic result like this against you. But it does not cover life, disability, or long-term-care insurance. In Canada, the federal Genetic Non-Discrimination Act blocks insurers from requiring genetic testing or results as a condition of coverage.

Can my employer find out about my APOL1 result?

GINA specifically prohibits employers with 15 or more employees from requesting or using a genetic test result like an APOL1 finding. That protection covers hiring, firing, and promotion decisions. Canadian federal law provides similarly strong protection against compelled disclosure.

Should I get a second opinion or bring my DNA result to a specialist?

Yes. A 23andMe result is a genetic risk finding, not a diagnosis. Bring it to a primary care physician or nephrologist so it can be weighed against your actual urine, blood, and family-history findings. A board-certified genetic counselor, findable through NSGC.org, can also help explain what the result does and does not mean.

Summary

Chronic Kidney Disease (APOL1-Related) comes from two specific risk variants, G1 and G2, in the APOL1 gene. It follows a recessive-like pattern that requires two risk alleles. About 13% of African Americans carry two risk variants. Yet the large majority never develop clinically significant kidney disease, because disease typically requires an added “second hit,” such as HIV infection.

A 23andMe report detects the G1/G2 variants only. It cannot replace the actual clinical workup: urine ACR testing, blood eGFR testing, and sometimes a kidney biopsy, that a nephrologist uses to diagnose CKD or FSGS. No drug is FDA- or Health Canada-approved for the APOL1 mechanism itself. Inaxaplin has shown promising phase 2a results and is now in a larger phase 2/3 trial. Standard CKD care, including dapagliflozin, remains the current backbone of treatment.

Family implications go beyond simple inheritance math. They include living-kidney-donor risk evaluation for Black donor candidates. GINA and Canada’s Genetic Non-Discrimination Act both offer real, if incomplete, legal protection. The psychosocial weight of a race-linked result deserves the same attention as the medical facts. Bring any APOL1 result to a primary care physician, nephrologist, or genetic counselor rather than interpreting it alone.

This article is for educational purposes only. It is not a substitute for advice from a licensed physician, board-certified medical geneticist, or board-certified genetic counselor. For any decisions about testing, treatment, or care, consult a qualified clinician. In emergencies, call 911.

References

1. Genovese G, Friedman DJ, Ross MD, et al. Association of Trypanolytic ApoL1 Variants with Kidney Disease in African Americans. Science. 2010 Aug 13;329(5993):841-845. PMID 20647424. https://pubmed.ncbi.nlm.nih.gov/20647424/
2. Kopp JB, Nelson GW, Sampath K, et al. APOL1 Genetic Variants in Focal Segmental Glomerulosclerosis and HIV-Associated Nephropathy. J Am Soc Nephrol. 2011. PMID 21997394. https://pubmed.ncbi.nlm.nih.gov/21997394/
3. Parsa A, Kao WH, Xie D, et al. APOL1 Risk Variants, Race, and Progression of Chronic Kidney Disease. N Engl J Med. 2013. PMID 24206458. https://pubmed.ncbi.nlm.nih.gov/24206458/
4. Friedman DJ, Pollak MR. APOL1 and Kidney Disease: From Genetics to Biology. Annu Rev Physiol. 2020. PMID 31804090. https://pubmed.ncbi.nlm.nih.gov/31804090/
5. Egbuna O, Zimmerman B, Manos G, et al. Inaxaplin for Proteinuric Kidney Disease in Persons with Two APOL1 Variants. N Engl J Med. 2023 Mar 16;388(24):2266-2276. PMID 36920755. DOI 10.1056/NEJMoa2202396. https://pubmed.ncbi.nlm.nih.gov/36920755/
6. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), National Institutes of Health. APOL1 and Kidney Disease. https://www.niddk.nih.gov/health-information/kidney-disease/apol1-kidney-disease
7. Centers for Disease Control and Prevention. Chronic Kidney Disease Basics. https://www.cdc.gov/kidney-disease/about/index.html
8. Genetic Information Nondiscrimination Act of 2008, Public Law 110-233. US Equal Employment Opportunity Commission. https://www.eeoc.gov/statutes/genetic-information-nondiscrimination-act-2008
9. Genetic Non-Discrimination Act, S.C. 2017, c. 3. Government of Canada, Justice Laws Website. https://laws-lois.justice.gc.ca/eng/acts/g-2.5/
10. US Food and Drug Administration. FDA Approves Treatment for Chronic Kidney Disease (dapagliflozin), 2021-04-30. https://www.fda.gov/drugs/news-events-human-drugs/fda-approves-treatment-chronic-kidney-disease
11. KDIGO 2024 Clinical Practice Guideline for the Evaluation and Management of Chronic Kidney Disease. Kidney Int. 2024;105(4S):S117-S314. PMID 38490803. https://pubmed.ncbi.nlm.nih.gov/38490803/
12. AMPLITUDE trial investigators. AMPLITUDE: an adaptive phase 2/3 trial of inaxaplin in APOL1-mediated kidney disease (NCT05312879). J Am Soc Nephrol (ASN Kidney Week abstract). 2024;35(10S):1770. https://clinicaltrials.gov/study/NCT05312879
13. Organ Procurement and Transplantation Network (OPTN) / UNOS. Guidance on APOL1 genotyping in living kidney donor risk evaluation. https://optn.transplant.hrsa.gov/policies-bylaws/policies/
14. National Kidney Foundation. APOL1-Mediated Kidney Disease. https://www.kidney.org/atoz/content/apol1-mediated-kidney-disease
15. Health Canada. Drug Product Database — dapagliflozin (FORXIGA), chronic kidney disease indication, authorized 2021. https://health-products.canada.ca/dpd-bdpp/index-eng.jsp

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Last updated: 2026-09-08

Author: Yu Mizuno (Editor-in-Chief, non-physician), GeneLumen editorial team. This article aggregates 15 sources from peer-reviewed medical literature and public health agencies (tier 1=11 / tier 2=3 / tier 3=1). Sources include NIH (NIDDK), CDC, the US Equal Employment Opportunity Commission, the Government of Canada, Health Canada, the FDA, KDIGO, and OPTN/UNOS. Editorial lead: Yu Mizuno, non-physician research editor.

This article is for educational purposes only and is not a substitute for medical advice from a licensed physician, board-certified medical geneticist, or board-certified genetic counselor. In emergencies, call 911 (US/Canada) or 119 (Japan).

Related: Genetic Diseases category

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