糖尿病肾病遗传学研究进展  

Advances of genetics in diabetic nephropathy

作　　者：李俊燕[1] 谭英姿[1] 冯国鄞[2] 贺林[2] 周里钢[1] 陆灏[1] 

机构地区：[1]上海中医药大学附属曙光医院内分泌科,糖尿病研究所,上海市中医临床重点实验室,上海201203 [2]上海交通大学Bio-X研究院,上海200030

出　　处：《遗传》2012年第12期1537-1544,共8页Hereditas（Beijing)

基　　金：上海市教育委员会重点学科(第五期)建设项目(编号:J50307);浦东新区卫生系统重点学科群建设(编号:PWZxkq2010-04);上海市中医临床重点实验室项目(C10dz2220200);上海浦江人才项目(编号:11PJ1408900);上海东方学者项目(2010)资助

摘　　要：糖尿病肾病是糖尿病最严重的慢性并发症之一,不同种族的发病率分析和家族聚集性研究显示遗传因素是糖尿病肾病发生、发展的重要因素。文章从3个方面对糖尿病肾病的遗传学研究进展进行综述:"候选基因"的关联研究、连锁分析和全基因组关联研究。关联研究及荟萃分析显示一些候选基因与糖尿病肾病显著相关,包括ACE、AGT和PPARG等基因;连锁分析及全基因组连锁分析发现多个糖尿病肾病的易感染色体位点;随着高通量测序技术和芯片技术的发展,全基因组关联研究已成为糖尿病肾病遗传学研究的重要途径。虽然遗传因素在糖尿病肾病发病中占据重要的位置,但还不能完全解释糖尿病肾病的发病原因,因为糖尿病肾病的发生还受环境因素的影响,然而糖尿病肾病的遗传学研究可为糖尿病肾病发病机制研究以及药物治疗靶点研究提供一定的理论依据。Diabetic nephropathy（DN） is one of the most serious chronic complications of diabetes mellitus.The observed incidence patterns in different ethnics and familial clustering have suggested that the genetic factor plays an important role in the development and progression of DN.This paper reviews the recent advances on genetics of DN,including candidate genes association studies,linkage studies and genome-wide association studies（GWASs）.Candidate genes association studies and meta-analysis showed that a few candidate genes have been reproducibly associated with DN,such as ACE,AGT and PPARG genes.Linkage studies and genome-wide linkage studies have also identified susceptibility chromosomal loci.With the development of high-throughput sequencing and chip techniques,GWAS has become an important strategy to identify variants responsible for DN.The genetic factor has been the significant contribution to the pathobiology of DN.However,it is not the only cause of the pathobiology of DN,because the environment factor also influences the pathobiology of DN.Nonetheless,genetic studies may provide valuable information for the pathobiology of nephropathy and potential targets of its treatment.

关 键 词：糖尿病肾病 遗传学 全基因组关联研究 

分 类 号：R587.2[医药卫生—内分泌]