Population-based genetic studies initially identifiedMYH9as a major susceptibility locus for diabetes-unrelated kidney diseases in persons of West African ancestry, but further research found more strongly associated mutations in the neighboring APOL1 gene. This Review describes how evolutionary selection pressure of an infectious pathogen in West Africa favored the spread of APOL1 variants that protect against a lethal form of African sleeping sickness but are associated with an increased risk of kidney disease. The authors discuss lessons that can be learned for future population genetics research.
- Saharon Rosset
- Shay Tzur
- Karl Skorecki