Recently a genetic predisposition to HIV associated nephropathy (HIVAN) has been shown in Afro-Americans: MYH9 polymorhism in 2008 and then APOL1 variants (G1 and G2 alleles) in 2010 were shown to be strongly associated with HIVAN.
Considerable attention has been focused on how the APOL1/MYH9 locus determines susceptibility to focal segmental glomerulosclerosis, including HIV-associated nephropathy (HIVAN).
Genome-wide association studies linked single-nucleotide polymorphisms (SNPs) at the MYH9 locus to chronic kidney disease among African-Americans, particularly glomerular diseases such as HIV nephropathy and idiopathic focal and segmental glomerulosclerosis (FSGS).
It is important that these novel risk factors be identified because prevention of environmental exposures and targeting of additional gene products may reduce the risk for HIVAN, even among those harboring 2 risk alleles in MYH9.
Genetic analyses in patients with essential hypertension and nephropathy attributed to hypertension, focal segmental glomerulosclerosis and HIVAN reveal that MYH9 gene polymorphisms are associated with a spectrum of kidney diseases in this ethnic group.
Neither the highly associated SNPs nor the results of resequencing MYH9 in 40 HIVAN or FSGS cases and controls revealed non-synonymous changes that could account for the disease associations.