Genetic Epidemiology and Associated Diseases of APOL1: A Narrative Review
M M Coker1,2,3, R O Akinyemi1,2,4, A A Bakare2,3
1Neuroscience and Ageing Research Unit, Institute for Advanced Medical Research and Training.
Background:
The Apolipoprotein 1 (APOL1) protein is a product of the human APOL1 gene located on chromosome 22q13.1 and performs functions including lipid transport and metabolism, programmed cell death, autophagy and innate immunity against intracellular pathogens. It is unique among its gene family in its possession of a signal peptide that confers on it the ability for export out of the cell and into the blood stream. The aim of this review is to explore the genetic epidemiology and biology of the APOL1 gene, describe its association with different renal and extra-renal disorders and highlight the timelines of the discoveries of the various associations.
Methods:
A literature search was carried out using combination of terms including "apolipoproteins", "apolipoprotein L", "APOL1", "genetics of APOL1", "Chronic Kidney Disease (CKD) and APOL1"," APOL1 and associated diseases" covering the period January 1990 to April 2020.
Results:
High frequency of the APOL1 gene arose as a result of natural selection in East and West Africa, regions endemic for Trypanosoma brucei infection. High frequencies are also reported among individuals of African ancestry in North America. APOL1 G1 and G2 variants protect against Trypanosoma brucei rhodesiense having overcome their virulence through the serum trypanolytic factor. Although protective against infection from trypanosomes, these alleles have also been shown to increase the risk of several disorders including various forms of chronic kidney diseases, schizophrenia, stroke, cancer, and pre - eclampsia.
Conclusion:
The elucidation of the APOL1 gene has deepened understanding of racial disparities in health and disease. Growing understanding of the genetics and functions of APOL1 has potential to enhance translational benefits for development of new biomarkers, preventive and therapeutic interventions in the context of precision medicine.
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