ISSN 1006-298X      CN 32-1425/R

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肾脏病与透析肾移植杂志 ›› 2011, Vol. 20 ›› Issue (3): 258-262.

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肾脏全基因组关联研究及发展方向

  

  • 出版日期:2011-06-30 发布日期:2011-08-08

Advance in kidney diseases with genome-wide association study

  • Online:2011-06-30 Published:2011-08-08

摘要:

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5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一有力工具。本文对GWAS在肾脏疾病方面的研究做一综述,并温习及讨论影响研究的诸因素。

关键词:  , 肾脏疾病,全基因组关联研究,影响因素,应用

Abstract:

Genetic factors play an important role in many kidney diseases such as polycystic kidney disease, Alport syndrome, Fabry disease, IgA nephropathy, diabetic nephropathy, lupus nephritis, etc. In the past few decades, a great deal of exploration had been done on these common genetic variants of kidney diseases. Although the pathogenesis of Alport syndrome, Fabry disease and other single-gene disease are clear with linkage analysis and positional cloning, the progress of complexity of clinical disease including IgA nephropathy, diabetic nephropathy, and so on is very slow on genetic research. The advance of genome-wide association study (GWAS) provides an important approach for studying susceptive genes of these diseases.In this article, the applications of GWAS in kidney diseases and their influence effects have been reviewed and discussed.