Integrating case-control and TDT studies
Integrating case-control and TDT studies
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DOI：
10.1046/j.1529-8817.2005.00156.x
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发表时间：
2005-05-01
影响因子：
1.9
通讯作者：
Farrall, M
中科院分区：
文献类型：
--
作者：
Kazeem, GR;Farrall, M
人们普遍期望遗传关联研究能够揭示复杂疾病的遗传基础。基于人群的病例对照研究是一种常用的关联研究方法，但存在人群混杂的问题。因此，从这些研究中获得的疾病标志物相关性的证据，理想地可以通过其他方法得到证实。传播/不平衡检验（TDT）适用于评估从病例对照研究中获得的关联证据。由于越来越多的来自同一疾病标志物关联的病例对照和TDT研究的数据，因此获得疾病标志物关联的综合估计是有用的。优势比是一种常用的衡量疾病标志物关联程度的方法，可以在病例对照研究中轻松获得。在这里，我们展示了如何从TDT结果中获得优势比估计值及其相关的标准误差。此外，我们建议将病例对照研究和TDT的结果整合起来，以提供疾病标志物相关性的综合估计。这样的综合估计可以用来对比两项研究的结果，并提供归因于这种多态性的效应大小的总体情况。一个说明性的应用程序作出了公布的数据集关于2型糖尿病。
Genetic-association studies are widely expected to unravel the genetic basis of complex diseases. The population-based case-control study, a commonly used approach for association studies, is subject to the problem of population admixture. Consequently, evidence of disease-marker associations obtained from such studies is ideally confirmed by alternative methods. The Transmission/Disequilibrium Test (TDT) is suitable to assess evidence of association obtained from case-control studies. Since data are increasingly available from both case-control and TDT studies of the same disease-marker association, it is useful to obtain a combined estimate of disease-marker association. The odds ratio is a commonly used measure of the magnitude of a disease-marker association that can be easily obtained in case-control studies. Here we show how an odds ratio estimate and its' associated standard error can be obtained from TDT results. Furthermore, we suggest a method for integrating results from case-control studies and the TDT to provide a combined estimate of disease-marker association. Such combined estimates can be used to contrast the results of the two studies and provides an overall picture of the effect size attributable to such polymorphism. An illustrative application is made to a published data set on type 2 diabetes.