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挖掘基因组以探寻糖尿病肾病易感性:大规模研究与合作联盟的作用

Mining the genome for susceptibility to diabetic nephropathy: the role of large-scale studies and consortia.

作者信息

Iyengar Sudha K, Freedman Barry I, Sedor John R

机构信息

Department of Epidemiology and Biostatistics, Case Western Reserve University, 2103 Cornell Road, Cleveland, OH 44106, USA.

出版信息

Semin Nephrol. 2007 Mar;27(2):208-22. doi: 10.1016/j.semnephrol.2007.01.004.

Abstract

Approximately 30% of individuals with type 1 and type 2 diabetes develop persistent albuminuria, lose renal function, and are at increased risk for cardiovascular and other microvascular complications. Diabetes and kidney diseases rank within the top 10 causes of death in Westernized countries and cause significant morbidity. Given these observations, genetic, genomic, and proteomic investigations have been initiated to better define basic mechanisms for disease initiation and progression, to identify individuals at risk for diabetic complications, and to develop more efficacious therapies. In this review we have focused on linkage analyses of candidate genes or chromosomal regions, or coarse genome-wide scans, which have mapped either categorical (chronic kidney disease or end-stage renal disease) or quantitative kidney traits (albuminuria/proteinuria or glomerular filtration rate). Most loci identified to date have not been replicated, however, several linked chromosomal regions are concordant between independent samples, suggesting the presence of a diabetic nephropathy gene. Two genes, carnosinase (CNDP1) on 18q, and engulfment and cell motility 1 (ELMO1) on 7p14, have been identified as diabetic nephropathy susceptibility genes, but these results require authentication. The availability of patient data sets with large sample sizes, improvements in informatics, genotyping technology, and statistical methodologies should accelerate the discovery of valid diabetic nephropathy susceptibility genes.

摘要

1型和2型糖尿病患者中约30%会出现持续性蛋白尿,肾功能丧失,并面临心血管及其他微血管并发症风险增加的问题。糖尿病和肾脏疾病位列西方国家十大死因之内,且会导致严重的发病率。鉴于这些观察结果,已启动遗传、基因组和蛋白质组学研究,以更好地界定疾病发生和发展的基本机制,识别有糖尿病并发症风险的个体,并开发更有效的治疗方法。在本综述中,我们重点关注了候选基因或染色体区域的连锁分析,或粗略的全基因组扫描,这些研究绘制了分类(慢性肾病或终末期肾病)或定量肾脏特征(蛋白尿/蛋白尿或肾小球滤过率)图谱。然而,迄今为止确定的大多数基因座尚未得到重复验证,不过,几个连锁的染色体区域在独立样本之间是一致的,这表明存在糖尿病肾病基因。已确定位于18q的肌肽酶(CNDP1)和位于7p14的吞噬与细胞运动蛋白1(ELMO1)这两个基因为糖尿病肾病易感基因,但这些结果需要验证。具备大样本量的患者数据集、信息学的改进、基因分型技术和统计方法,应能加速有效糖尿病肾病易感基因的发现。

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