IgA nephropathy (IgAN) is one of the most common primary glomerulonephritides throughout the world and a major cause of end-stage renal disease among the East Asian population. It is widely considered that genetic factors play an important role in the pathogenesis of IgAN. This article summarizes the recent achievements in the genetic studies of IgAN, focusing mainly on studies performed in East Asia, from the early association studies of candidate genes and family based designs, to the recent genome-wide association studies. There have been five large genome-wide association studies performed that have identified multiple susceptibility loci for IgAN, especially some novel loci identified in the Chinese population. Genes within these loci have provided important insights into the potential biological mechanisms and pathways that influence genetic risk to IgAN. In susceptibility loci/genes, the study of genetic interaction and structural variants (such as copy number variation) was conducted to identify more variants associated with IgAN and disease progression. Genetic studies of IgAN from East Asia have made great achievements over the years. Most susceptibility loci discovered to date encode genes involved in the response to mucosal pathogens, suggesting that an intestinal-immune network for IgA production may be involved in the pathogenesis of IgAN. Although genetic studies of the complex diseases are challenging, for future genetic studies in IgAN, new genetic techniques and methods of analysis, especially next-generation sequencing, need to be applied to push the genetic studies forward.
Keywords: IgA nephropathy (IgAN); common variants; copy number variants (CNV); genome-wide association study (GWAS); rare variants.
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