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遗传因素在许多常见的肾脏疾病(如多囊肾病、Alport综合征、Fabry病、IgA肾病、糖尿病肾病、狼疮性肾炎等)中起着重要作用。以往数十年里,研究者为寻找这些常见肾脏疾病的基因变异,进行了大量的探索,通过连锁分析和定位克隆等技术研究明确了Alport综合征、Fabry病等单基因病的致病机制。但是,对临床上更为常见的复杂性疾病(IgA肾病、糖尿病肾病等)的基因研究进展却非常缓慢。近五年发展的全基因组关联研究(genome-wide association study,GWAS)为寻找这些疾病的易感基因提供了有力工具。
Genetic factors play an important role in many common kidney diseases such as polycystic kidney disease, Alport syndrome, Fabry’s disease, IgA nephropathy, diabetic nephropathy and lupus nephritis. In the past few decades, researchers explored gene mutations in search of these common kidney diseases. The mechanisms of single gene diseases such as Alport syndrome and Fabry disease were identified through techniques such as linkage analysis and positional cloning. However, genetic research on more complex and clinically complex diseases (IgA nephropathy, diabetic nephropathy, etc.) has progressed very slowly. The genome-wide association study (GWAS), developed over the last five years, provides a powerful tool for finding susceptible genes for these diseases.