Susceptibility genes in common complex kidney disease.
OBJECTIVE
This paper reviews recent efforts to identify genetic variants conferring risk for chronic kidney disease. A brief overview of methods for identifying gene variants is provided, along with genetic associations and new avenues under exploration.


RESULTS
The role of renal failure susceptibility genes, including MYH9, ELMO1, UMOD and ACTN4, has become clearer over the past 18 months. The spectrum of MYH9-associated kidney disease, including focal segmental glomerulosclerosis, global glomerulosclerosis and collapsing glomerulopathy, related entities contributing to approximately 43% of end-stage renal disease in African-Americans, has come to light.


CONCLUSIONS
MYH9 will re-categorize focal segmental glomerulosclerosis and related disorders, and has clarified the relationship between hypertension and kidney disease. MYH9 polymorphisms account for much of the excess risk of HIV-associated nephropathy and nondiabetic kidney disease in African-Americans. Kidney disease associations with ELMO1 and UMOD have been replicated and applications of genome-wide association studies based on expression data are providing novel insights on renal protein expression. These breakthroughs will alter our approach to kidney disease surveillance and lead to new therapeutic options.
Divers
Jasmin
J
Division of Public Health Sciences, Wake Forest University School of Medicine, Winston-Salem, North Carolina 27157-1053, USA.
Freedman
Barry I
BI
D016263:AIDS-Associated Nephropathy / Q000235:genetics; D000185:Actinin / Q000235:genetics; D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D001741:Black or African American / Q000235:genetics; D002874:Chromosome Mapping; D003928:Diabetic Nephropathies / Q000235:genetics; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D055106:Genome-Wide Association Study; D006801:Humans; D007668:Kidney / Q000502:physiology; D007674:Kidney Diseases / Q000235:genetics* / Q000503:physiopathology; D015810:Linkage Disequilibrium; D020409:Molecular Motor Proteins / Q000235:genetics; D009088:Mucoproteins / Q000235:genetics; D018995:Myosin Heavy Chains / Q000235:genetics; D010641:Phenotype; D058949:Uromodulin
C111453:ACTN4 protein, human; D048868:Adaptor Proteins, Signal Transducing; C465214:ELMO1 protein, human; C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D009088:Mucoproteins; C548612:UMOD protein, human; D058949:Uromodulin; D000185:Actinin; D018995:Myosin Heavy Chains