Genetic aspects of familial focal segmental glomerulosclerosis

Abstract

Focal Segmental Glomerulosclerosis (FSGS) participates in different clinical presentations therefore involved in underlying pathophysiological etiologies. Numerous reports have proposed that vulnerability to develop FSGS has an important genetic component. These studies comprise familial aggregation, differences in the incidence of FSGS between different ethnic groups, and segregation analysis. Genetic methods have been used to classify genes that contribute towards genetic predisposition. Various studies revealed the precise role of “candidate genes”, which may cause FSGS with different pathogenesis. New studies to assess the role of associated genes have shown contradictory results. These results may be due to the fact that some of the previously reported genes may play only a moderate role. Presently genome wide studies have been carried out and these studies have contributed in finding out the location chromosomal positions. Interestingly novel, unrecognized genes to FSGS have been found. We have focused on different genetic studies including exact role and function of these genes on FSGS and have discussed the strength and weaknesses of these studies. Understanding of the development of FSGS may track future therapies and outcomes.