Genetics of kidney disease

Abstract

Multiple lines of evidence suggest that susceptibility to develop end-stage renal disease (ESRD) has a significant genetic component. These studies include familial aggregation studies, comparisons of incidence rates between different racial or ethnic populations, and segregation analysis. Multiple approaches have been employed in an effort to identify genes that contribute to this genetic susceptibility. Many studies have now been carried out assessing the contribution of specific "candidate genes," that is, genes with functions consistent with involvement in renal pathogenesis. Independent evaluations of specific candidate genes have frequently provided contradictory results. This may be due, in part, to the modest contribution to genetic susceptibility that these genes impart. In contrast to the focused analysis of candidate genes, the genome scan approach employs a comprehensive evaluation of inheritance throughout the genome. The great potential advantage of the genome scan is the ability to identify chromosomal regions harboring novel, previously unrecognized, genes that contribute to renal disease. Results from whole genome scans of family collections are now beginning to appear and give the promise that multiple comprehensive genetic evaluations of end-stage renal disease will soon be available for evaluation.