APOL1 rs60910145: Understanding the G1 Risk Haplotype
The rs60910145 variant is a genetic change within the APOL1 gene that serves as a defining component of the G1 risk haplotype. This haplotype is strongly associated with an increased susceptibility to certain forms of chronic kidney disease in individuals of recent African ancestry.
What each genotype means
Typical APOL1 profile
This genotype represents the reference sequence for this position, often referred to as the G0 allele. It is not associated with the increased risk of kidney disease linked to the G1 haplotype. You should discuss any concerns regarding kidney health with your healthcare provider.
This is the most common genotype in populations without recent African ancestry and is also found frequently in individuals of African descent.
Single G1 risk allele
This genotype indicates you carry one copy of the G1 risk haplotype, which is defined by the T allele at this position. Carrying a single risk allele is generally considered to have little to no effect on kidney disease risk, as the high-risk association typically requires two risk alleles. Please consult your clinician for personalized health guidance.
This genotype is commonly observed in individuals of West African ancestry.
Increased kidney disease risk
This genotype is associated with the APOL1 G1 risk haplotype, which has been linked to an elevated susceptibility to certain forms of chronic kidney disease and end-stage renal disease. Because this risk is complex and depends on other genetic and environmental factors, you should discuss these results with a medical professional or genetic counselor to understand your specific health context.
This genotype is found at a significant frequency in populations of West African ancestry and is extremely rare in populations lacking recent African ancestry.
What is rs60910145?
The rs60910145 variant is a single nucleotide polymorphism (SNP) located within the APOL1 gene on chromosome 22. Specifically, it involves a substitution where the nucleotide thymine (T) is replaced by guanine (G). This change results in an amino acid substitution, specifically isoleucine to methionine at position 384 (p.I384M) of the APOL1 protein. This SNP does not act alone; it is inherited as part of a specific group of variants known as the G1 haplotype, which also includes the rs73885319 variant. Because these variants are in near-perfect linkage disequilibrium, they are almost always inherited together as a single functional unit. This haplotype is a significant focus of genetic research because it alters the structure and function of the protein it encodes, particularly in the C-terminal domain, which is essential for the protein's biological activity.
The Role of the APOL1 Gene
The APOL1 gene encodes the apolipoprotein L1 protein, which is a member of the apolipoprotein family. This protein plays a critical role in the human innate immune system, specifically in providing protection against certain species of trypanosomes, the parasites responsible for African sleeping sickness. The protein functions by forming pores in the membranes of these parasites, effectively neutralizing them. While this function is highly beneficial in regions where these parasites are endemic, the evolution of the G1 and G2 risk haplotypes has created a complex trade-off. These variants enhance the protein's ability to kill parasites but are also associated with a toxic gain-of-function that can damage kidney cells. This evolutionary adaptation highlights how genetic traits that provide survival advantages in one environment can lead to increased disease susceptibility in others.
Research and Clinical Associations
Extensive research has established that the G1 haplotype, which includes rs60910145, is a major genetic risk factor for various forms of non-diabetic chronic kidney disease (CKD). These include focal segmental glomerulosclerosis (FSGS), HIV-associated nephropathy, and hypertension-attributed kidney failure. The risk follows a recessive model, meaning that individuals typically only face a significantly elevated risk if they inherit two copies of the risk haplotype (e.g., G1/G1, G2/G2, or G1/G2). While the association between these genotypes and kidney disease is strong, it is important to note that not everyone with a high-risk genotype will develop kidney disease. Other genetic and environmental factors likely act as modifiers, influencing whether the disease manifests. Current research continues to investigate these 'second hits' to better understand why some individuals with the high-risk genotype remain healthy while others experience rapid progression of kidney dysfunction.
Population Frequency
The rs60910145 variant and the broader G1 haplotype are found almost exclusively in populations with recent African ancestry. This distribution is a direct result of the evolutionary pressure exerted by African trypanosomiasis, which favored the survival of individuals carrying these protective variants. In many West African populations, the frequency of the G1 haplotype is high, often ranging between 20% and 35%. Conversely, the variant is extremely rare or absent in populations lacking recent African ancestry, such as those of European or East Asian descent. Because of this ancestry-specific distribution, the clinical implications of this variant are most relevant for individuals of African descent. Understanding this frequency is essential for clinicians and researchers when evaluating the genetic architecture of kidney disease disparities across different global populations.
What You Can Do With This Information
Genetic information regarding the APOL1 rs60910145 variant is intended for educational and research purposes. It is not a diagnostic tool, and the presence of a high-risk genotype does not mean that an individual will inevitably develop kidney disease. If you are concerned about your kidney health or have a family history of renal issues, the most important step is to consult with a healthcare professional or a nephrologist. They can perform standard clinical tests, such as blood pressure monitoring, urine analysis, and blood tests for kidney function (e.g., creatinine and eGFR), which are the gold standards for assessing kidney health. Never use genetic test results to make medical decisions or to self-diagnose. Always discuss any findings from genetic testing with a qualified clinician who can interpret the results within the context of your overall health and medical history.
How common is this variant?
The rs60910145 variant is common in West African ancestry groups, with frequencies typically between 20% and 35%, but it is extremely rare in populations without recent African ancestry.
Frequently asked questions
Does having the G1 risk genotype mean I will get kidney disease?
No, having the high-risk genotype does not guarantee that you will develop kidney disease. Many people with two copies of the risk haplotype never experience kidney failure, suggesting that other genetic and environmental factors are required for the disease to develop.
Is there a test for APOL1-associated kidney disease?
Genetic testing can identify the presence of APOL1 risk variants, but it is not a routine diagnostic test for kidney disease. Doctors typically rely on clinical markers like blood pressure, urine protein levels, and blood creatinine levels to assess kidney function.
Why is this variant common in some populations?
The APOL1 risk variants provide a survival advantage by protecting against African trypanosomiasis, a parasitic infection. This evolutionary benefit led to the high frequency of these variants in populations where the parasite was historically endemic.
Can I change my risk if I have the G1 genotype?
While you cannot change your genetics, you can manage your overall kidney health by maintaining a healthy lifestyle. This includes controlling blood pressure, managing blood sugar if you have diabetes, and having regular check-ups with your doctor.
Sources & further reading
Educational information only, last refreshed 9/26/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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A variant in the APOL1 gene (G1 risk allele) associated with chronic kidney disease in individuals of African ancestry.
Defines the APOL1 G2 allele (two-amino-acid deletion N388_Y389del) that provides protection against Trypanosoma brucei rhodesiense while conferring increased risk of chronic kidney disease.
Known as the G1 risk allele, this variant significantly increases the risk of chronic kidney disease, especially in those with African ancestry.