IgA肾病遗传学的研究进展

Research Progress of IgA Nephropathy Genetics

IgA肾病(IgAN)是世界范围内最常见的原发性肾小球肾炎,是一种多基因、多因素决定的复杂性疾病。家族聚集起病及发病率的人种差异均提示遗传因素为重要致病机制之一。通过连锁分析和候选基因关联研究的方法找到IgAN致病易患基因图谱和明确致病突变基因已成为当前研究的热点。血清IgA1糖基化的缺陷导致免疫复合物的形成,构成了遗传性IgAN的危险因素。不断完善的基因组学方法(包括全基因组关联研究)为阐明IgAN的遗传基础提供了有力的工具。近年来IgAN动物模型研究有了许多新的进展,从不同侧面反映了IgAN的发病机制。

IgA nephropathy（IgAN）is the most common form of primary glomerulonephritis worldwide.It is a polygenic,multifactorial and complex diseases.The discovery of familial IgAN and diverse prevalence between different populations indicate a genetic mechanism in the development of IgAN.By linkage analysis and candidate-gene association studies to find IgAN susceptibility gene mapping and clear disease-causing mutation has been a hotspot of genetic studies recently.Defects in IgA1 glycosylation lead to formation of immune complexes which constitute a heritable risk factor for IgAN.Continuous improvement of genomics（including genome-wide association studies）offers promising tools for elucidating the genetic basis of IgAN.In the past few years,animal models of IgAN have made a lot of advances and have reflected the pathogenesis of IgAN from different aspects.