Xie Jingyuan, Shapiro Samantha, Gharavi Ali
Department of Nephrology, Ruijin Hospital, Shanghai Jiao Tong University, School of Medicine, Shanghai, PR China.
Contrib Nephrol. 2013;181:52-64. doi: 10.1159/000348652. Epub 2013 May 8.
Primary IgA nephropathy (IgAN) is the most common glomerulonephritis in the world. It is most common in Asian populations, followed by Caucasians, yet relatively infrequent amongst African populations. The striking difference in the prevalence of IgAN between world populations, together with the known familial aggregation of disease, suggests an inherited mechanism. Recently three genome-wide association studies (GWAS) of IgAN have identified seven susceptibility loci, providing initial insight into the genetic architecture of this trait. While genetic studies of complex traits are challenging, applying new techniques and methods of analysis, especially Next-Generation Sequencing, will push the genetic studies of IgAN forward.
原发性IgA肾病(IgAN)是全球最常见的肾小球肾炎。它在亚洲人群中最为常见,其次是白种人,而在非洲人群中相对少见。世界不同人群中IgAN患病率的显著差异,以及已知的疾病家族聚集性,提示存在遗传机制。最近三项IgA肾病的全基因组关联研究(GWAS)已确定了七个易感基因座,为这一特征的遗传结构提供了初步见解。虽然复杂性状的遗传学研究具有挑战性,但应用新技术和分析方法,尤其是新一代测序技术,将推动IgA肾病的遗传学研究向前发展。