IgA 肾病是全世界最常见的原发性肾小球肾病之一.种族和地区差异以及家族聚集支持遗传因素在IgA肾病的发病机制中起重要作用.从早期的连锁分析、候选基因关联分析,到最近的大型国际全基因组关联研究(GWAS),逐渐确定了 IgA肾病的多个易感基因,为了解IgA肾病 致病机制和诊疗提供了重要线索.随着下一代测序技术的发展、研究样本量的扩大、遗传分析方法的提高,多组学和实验技术的发展,会揭示更多的IgA肾病的相关易感基因(包括一些低频、罕见变异),进一步阐明致病变异的分子机制,并有望推动IgAN的预防和精准治疗.
Research progress on genetics of IgA nephropathy
IgA nephropathy(IgAN)is one of the most common primary glomerular nephropathy worldwide.Ethnic and regional differences as well as familial clustering all support that the genetic factors play an important role in the pathogenesis of IgAN.From early linkage analysis and candidate gene association analysis to recent large-scale international genome-wide association studies(GWAS),multiple susceptibility genes for IgAN have been gradually identified.These findings provide important clues to understand its pathogenesis and improve the diagnosis and treatment.With the advent of next-generation sequencing,the expansion of study sample size,the improvement of genetic analysis methods and the development of multi-omics and experimental techniques,more IgAN-associated susceptibility genes including some low frequency and rare variants could be revealed.Thus,the molecular mechanism of pathogenic variants will be further clarified,and the prevention and precision medicine in IgAN will be further promoted.
IgA nephropathyGenome-wide association studiesGenetic factorsPathogenesisPolygenic risk scoreDrug target
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