关键词: IgA肾病 , 基因研究

Abstract:

Primary IgA Nephropathy is the most common glomerulonephritis in the world. The discovery of familial IgAN and diverse prevalence between different populations indicates a genetic mechanism in the development of IgAN. Whereas no causal gene was identified, promising results were found which benefitted from the improvement of genetic study approaches, especially the appearance and extending the use of the highly density gene chip and the complete of the Human Genome Project. Four predisposing loci were identified in familial IgAN by linkage analysis. Association studies suggested genes which coding key enzymes in the process of glycosylation of IgA1 might correlate with IgAN. Serial genes have been discovered by blood white cells and kidney tissue expression profile analysis. Functional studies of these candidate genes can be carried out by using animal models. Genome wide association study (GWAS) has been a hotspot of genetic studies recently, by using highly density gene chip; GWA approach is “hypothesis-free”, and powerful in detecting genes exerting relatively modest effect. Two GWAS of IgAN have been released. While genetic studies for complex traits are challenging, applying new genetic techniques and analysis methods, especially the Next-Generation Sequencing, will push the genetic studies of IgAN forward.

Key words: IgA Nephropathy   , genetic studies