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T here are 2 risk alleles at the APOL1 gene (G1 and G2, encoding S342G and I384M substitutions and N388–Y389 deletions, respectively) that account for >70% of the increased risk… Click to show full abstract
T here are 2 risk alleles at the APOL1 gene (G1 and G2, encoding S342G and I384M substitutions and N388–Y389 deletions, respectively) that account for >70% of the increased risk for nondiabetic chronic kidney disease (CKD) in individuals of SubSaharan African ancestry. These variants have risen to high allele frequency in Trypanosomaendemic regions in Africa owing to the dominant selective advantage that restores trypanolytic activity against T brucei rhodesiense (G2) and confers protection from active illness caused by T brucei gambiense (G1). This protective effect confers a significant disadvantage that translates to increased CKD risk in individuals that harbor 2 APOL1 risk alleles. A broad spectrum of kidney disease has been associated with APOL1 risk alleles, including hypertensionattributed kidney disease, focal
Journal Title: Kidney International Reports
Year Published: 2022
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