Rodriguez-Murillo Laura, Greenberg David A
Division of Statistical Genetics, Department of Biostatistics, New York State Psychiatric Institute, Colombia University Medical Center, New York, NY 10032, USA.
Int J Androl. 2008 Dec;31(6):546-56. doi: 10.1111/j.1365-2605.2008.00896.x. Epub 2008 Jun 2.
Currently, the most used approach to mapping disease genes is the genome wide association study, using large samples of cases and controls and hundreds of thousands of markers spread throughout the genome. This review focuses in explaining how an association study works, its strengths and its weaknesses, and the methods available to analyse the data. Issues related to sample size, genetic effect sizes, epistasis, replication and population stratification are specifically addressed, issues that an investigator must take into account when planning an association study of any complex disease. Finally, we include some special features concerning association studies in the Y chromosome, and we contrast the analysis characteristics of linkage and association.
目前，绘制疾病基因图谱最常用的方法是全基因组关联研究，该研究使用大量病例和对照样本以及遍布全基因组的数十万个标记。本综述着重解释关联研究的工作原理、优点和缺点，以及可用于分析数据的方法。特别讨论了与样本量、基因效应大小、上位性、重复验证和群体分层相关的问题，这些问题是研究人员在计划任何复杂疾病的关联研究时必须考虑的。最后，我们介绍了一些关于Y染色体关联研究的特殊特征，并对比了连锁分析和关联分析的特点。
