Opportunities and Challenges of Genotyping Patients With Nephrotic Syndrome in the Genomic Era

Abstract

Both targeted and genome-wide linkage and association studies have identified a number of genes and genetic variants associated with nephrotic syndrome (NS). Genotype-phenotype studies of patients with these variants have identified correlations of clear clinical significance. Combined with improved genomic technologies, this has resulted in increasing, and justifiable, enthusiasm for incorporating our patients' genomic information into our clinical management decisions. Here, we summarize our understanding of NS-associated genetic factors, namely rare causal mutations or common risk alleles in apolipoprotein L1. We discuss the complexities inherent in trying to ascribe risk or causality to these variants, particularly as we seek to extend genetic testing to a broader group of patients, including many with sporadic disease. Overall, the thoughtful application and interpretation of these genetic tests will maximize the benefits to our patients with NS in the form of more precise clinical care.

Keywords: Podocyte; SRNS; focal segmental glomerulosclerosis; risk allele.