Protein: apolipoprotein L-1
APOL1 variants are associated with increased susceptibility to focal segmental glomerulosclerosis (FSGS4; OMIM 612551) when two risk alleles are present.
Focal segmental glomerulosclerosis is clinically associated with:
- Nephrotic syndrome
- Progressive loss of renal function leading to end-stage renal disease
Individuals of African descent are at a greater risk to develop chronic kidney disease than individuals of European descent. Studies have shown that specific variants in APOL1 confer nearly all of this increased risk. These variants, classified as G1 and G2 are prevalent in African Americans, and have not been identified in European Americans.
APOL1 variants are also associated with increased risk of hypertension-attributed end stage renal disease, sickle cell-associated kidney disease, and shortened graft survival of kidney transplants based on the donor genotype.
Inheritance pattern: Autosomal recessive