| Title: | Examining the relationship between APOL1 and chronic kidney disease |
| Lead Institution: | University of Glasgow |
| Principal investigator: | Dr Walt Adamson |
Application 66821
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About
There are two mutations (changes to the genetic sequence) in the APOL1 gene that are common in individuals with recent African genetic ancestry, but not present in humans who do not have this ancestry. Carrying one copy of the mutant APOL1 gene has been shown to give protection against human African trypanosomiasis (sleeping sickness). The frequency of these mutations has previously been calculated in various populations in Africa and in populations with recent African heritage in the Americas. Due to the benefit that this provides to carriers, natural selection has resulted in these mutations being common in areas where sleeping sickness is present, and in populations descended from such areas. However, previous studies of chronic kidney disease in African Americans have indicated that individuals who have two copies of mutant APOL1 have an increase susceptibility to chronic kidney disease. We will determine the frequency of these mutations among individuals in the UK Biobank who have black ethnicity, and examine whether people in the UK Biobank who have two copies of mutant APOL1 are more likely to have impaired kidney function. We will also investigate whether there is a link between having one or two copies of the mutant APOL1 gene and other illnesses (such as heart conditions, strokes, and neurodegenerative diseases). Additionally we will investigate how factors that are responsible for chronic kidney disease differ across ethnicities. We estimate that carrying out this analysis in full will take two years. Having a greater understanding of the genetic basis of chronic kidney disease and how this and other relevant factors vary across ethnicities will enable predictions to be made about the likelihood that an individual might develop it, enable treatments and preventative measures to be better targeted, and provide information on inequalities between ethnicities in relation to health.1 Publication
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 8778 | Phenome-wide analysis reveals epistatic associations between APOL1 variants and chronic kidney disease and multiple other disorders | Walt E Adamson (+10) | 2024 | EBioMedicine |
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