Gene Mapping Studies in Kidney Disease
We focus on the mapping and identification of genes underlying kidney disease-related traits in humans. These efforts include a range of study designs: from family-based studies (such as linkage and sequencing in pedigrees), to population-based studies (such as GWAS, CNV and rare variant association approaches). Most of our work has been focused on the genetics of IgA nephropathy (IgAN).
IgAN has a complex genetic architecture. Linkage studies demonstrate significant locus heterogeneity. Population-based studies support additive contributions of multiple common variants. Our recent GWAS involving >20,000 individuals implicated both adaptive and innate immunity in the disease pathogenesis, and defined the “Immune Network of Intestinal IgA Production” as one of the key pathogenic disease pathways.
Our ongoing studies concentrate on refining the genetic architecture of IgAN by fine-mapping of the known loci and discovery of additional genetic risk variants.