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Genetics of Kidneys in Diabetes (GoKinD) Study: A Genetics Collection Available for Identifying Genetic Susceptibility Factors for Diabetic Nephropathy in Type 1 Diabetes

机译:糖尿病肾脏的遗传学(GoKinD)研究:可用于鉴定1型糖尿病糖尿病肾病遗传易感性的遗传学集合

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摘要

The Genetics of Kidneys in Diabetes (GoKinD) study is an initiative that aims to identify genes that are involved in diabetic nephropathy. A large number of individuals with type 1 diabetes were screened to identify two subsets, one with clear-cut kidney disease and another with normal renal status despite long-term diabetes. Those who met additional entry criteria and consented to participate were enrolled. When possible, both parents also were enrolled to form family trios. As of November 2005, GoKinD included 3075 participants who comprise 671 case singletons, 623 control singletons, 272 case trios, and 323 control trios. Interested investigators may request the DNA collection and corresponding clinical data for GoKinD participants using the instructions and application form that are available at . Participating scientists will have access to three data sets, each with distinct advantages. The set of 1294 singletons has adequate power to detect a wide range of genetic effects, even those of modest size. The set of case trios, which has adequate power to detect effects of moderate size, is not susceptible to false-positive results because of population substructure. The set of control trios is critical for excluding certain false-positive results that can occur in case trios and may be particularly useful for testing gene—environment interactions. Integration of the evidence from these three components into a single, unified analysis presents a challenge. This overview of the GoKinD study examines in detail the power of each study component and discusses analytic challenges that investigators will face in using this resource.
机译:糖尿病肾脏遗传学(GoKinD)研究是一项旨在鉴定与糖尿病性肾病有关的基因的计划。筛查了大量患有1型糖尿病的个体,以识别出两个亚型,一个患有明确的肾脏疾病,另一个患有长期肾脏疾病但肾功能正常的人。那些符合其他入学条件并同意参加的人。在可能的情况下,父母双方也应报名组成家庭三人组。截至2005年11月,GoKinD包括3075名参与者,包括671个案例单例,623个控制单例,272个案例三重奏和323个控制三重奏。有兴趣的研究者可以使用上提供的说明和申请表,为GoKinD参与者索要DNA收集和相应的临床数据。与会的科学家将可以访问三个数据集,每个数据集都有各自的优势。这组1294个单例具有足够的能力来检测广泛的遗传效应,即使是中等大小的遗传效应。由于人口子结构的原因,这组病例三重奏有足够的能力来检测中等大小的影响,因此不易受到假阳性结果的影响。对照三重奏组对于排除某些可能在三重奏情况下发生的假阳性结果至关重要,并且对于测试基因与环境的相互作用特别有用。将这三个组成部分的证据整合到一个统一的分析中是一个挑战。 GoKinD研究的概述详细检查了每个研究组件的功能,并讨论了调查人员在使用此资源时将面临的分析挑战。

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