Turecki G, Rouleau G A, Mari J J, Morgan K
Centre for Research in Neuroscience, McGill University, Montreal, Canada.
Acta Psychiatr Scand. 1996 May;93(5):317-26. doi: 10.1111/j.1600-0447.1996.tb10655.x.
Genetic factors have long been implicated in the aetiology of bipolar disorder (BD). During the past two decades several linkage studies have been carried out with the aim of identifying major genes. However, remarkable discrepancies in results both between and within studies have constituted a major problem. In order to elucidate some of these conflicts, we assessed the published literature on linkage studies of bipolar disorder, focusing on methodological issues. Studies published between January 1980 and December 1994 were identified by computerized literature searches and subsequent scanning of review articles, and the reference lists of the articles primarily identified. A set of defined inclusion and exclusion criteria was used to select studies for assessment. A total of 31 variables were determined, and pre-defined codes were assigned in a structured manner. More than 200 citations were reviewed, and 60 articles were included in this study. Descriptive statistical analyses of the variables, as well as associations between variables, are presented. The findings are discussed with regard to the possibility that, beyond the genetic complexity of the disorder itself, there are several other similarly complicated study design issues which should be more carefully observed. Moreover, the need for standardization of basic criteria to use and report clinical and analytical parameters employed in linkage studies is strongly suggested.
长期以来，遗传因素一直被认为与双相情感障碍（BD）的病因有关。在过去二十年中，为了识别主要基因，已经开展了多项连锁研究。然而，研究之间以及研究内部结果的显著差异构成了一个主要问题。为了阐明其中的一些冲突，我们评估了关于双相情感障碍连锁研究的已发表文献，重点关注方法学问题。通过计算机化文献检索以及随后对综述文章和最初确定文章的参考文献列表进行筛选，确定了1980年1月至1994年12月期间发表的研究。使用一套明确的纳入和排除标准来选择进行评估的研究。总共确定了31个变量，并以结构化方式分配了预定义代码。审查了200多篇文献引用，本研究纳入了60篇文章。呈现了变量的描述性统计分析以及变量之间的关联。讨论了这些发现，考虑到除了该疾病本身的遗传复杂性之外，还有其他几个同样复杂的研究设计问题需要更仔细地观察。此外，强烈建议对连锁研究中使用和报告的临床及分析参数的基本标准进行标准化。
