Rasheed Gbadegesin, MBBS, MD, Principal Investigator

Studies of hereditary steroid resistant nephrotic syndrome (SRNS) have generated data to improve our understanding of the pathogenesis of NS, however, little progress has been made in identifying genetic factors associated with the predominant form of NS, childhood onset steroid sensitive nephrotic syndrome (SSNS).  SSNS is responsible for more than 80% of cases seen by Pediatric Nephrologists, yet the biologic basis for disparity in incidence and severity of SSNS between different ethnicities is unknown. As a first step towards understanding the more common SSNS, in the last ten years we have created a robust biorepository for childhood onset NS.  We now have phenotype and biosamples from over 1000 children with NS.  We recently used a novel study design to identify, for the first time, an unbiased genome wide risk locus for childhood SSNS in a subset of our cohort1. The locus provided an unbiased genetic evidence that adaptive immunity is important in the pathogenesis of NS. We are currently extending the study to World-Wide cohort of children from diverse racial background with the hope to identify additional loci that will establish the biologic basis of ethnic disparity in NS and hopefully lead to identification of novel therapeutic targets for SSNS.

HLA-DQA1 and PLCG2 Are Candidate Risk Loci for Childhood-Onset Steroid-Sensitive Nephrotic Syndrome