Piras Doloretta, Zoledziewska Magdalena, Cucca Francesco, Pani Antonello
Divisione di Nefrologia e Dialisi, Azienda Ospedaliera G. Brotzu, Cagliari, Italy.
Istituto di Ricerca Genetica e Biomedica (IRGB-CNR), Cagliari, Italy.
Kidney Dis (Basel). 2017 Dec;3(3):106-110. doi: 10.1159/000481886. Epub 2017 Nov 18.
In recent years, the very high worldwide prevalence of chronic kidney disease (CKD) has led some authors to talk of an "epidemic." The progression of CKD varies considerably among individuals despite similar aetiologies, optimal blood pressure, and glycaemic control. Over the last decade, through genome-wide association studies (GWAS), more than 50 genetic loci have been identified in association with CKD. Understanding the genetic basis of CKD could provide a better knowledge of the biology of the involved pathways, thus potentially leading to novel tools for the diagnosis, prevention, and therapy of CKD. In this review, we will analyse the role of GWAS in the study of CKD.
近年来,全球慢性肾脏病(CKD)的极高患病率使得一些作者称其为一种“流行病”。尽管病因相似、血压控制理想且血糖控制良好,但CKD在个体间的进展差异很大。在过去十年中,通过全基因组关联研究(GWAS),已确定了50多个与CKD相关的基因位点。了解CKD的遗传基础可以更好地认识相关通路的生物学特性,从而有可能带来用于CKD诊断、预防和治疗的新工具。在本综述中,我们将分析GWAS在CKD研究中的作用。