Stassen H H, Scharfetter C, Winokur G, Angst J
Psychiatric University Hospital Zurich, Research Department, Switzerland.
Eur Arch Psychiatry Neurol Sci. 1988;237(2):115-23. doi: 10.1007/BF00382376.
A major problem with studies in the field of quantitative genetics is that of phenotypical heterogeneity. In particular, such heterogeneities show up in psychiatric investigations: index cases often tend to display more severe forms of disorders than the respective affected relatives. The principal goal of the present investigation was to test the phenotypical equivalence of the two populations of index cases and their affected relatives. Our analyses were based on 269 hospitalized patients with functional psychoses and 350 affected first degree relatives. As opposed to the majority of earlier investigations in which phenotypes were uniquely defined by diagnoses, phenotypes were represented in this study by a list of 22 psychiatric syndromes. Accordingly, multivariate statistical procedures were applied to analyze the intrinsic properties of the empirical lists. The results showed that typical syndrome patterns clearly appeared in both populations and that the phenotypical equivalence of the corresponding population sample sets lay between satisfactory and good. Furthermore, it was possible to select phenotypically homogeneous and reproducible subsets on the basis of the 22 syndromes. These subgroups can be used as basic material to study the genetic modes via current models from quantitative genetics. Nevertheless, our analyses revealed no clear breeding true of either affective disorders or schizophrenia.
数量遗传学领域研究的一个主要问题是表型异质性。特别是,这种异质性在精神病学调查中表现出来:索引病例往往比各自受影响的亲属表现出更严重的疾病形式。本研究的主要目标是检验索引病例和其受影响亲属这两组人群的表型等效性。我们的分析基于269名因功能性精神病住院的患者和350名受影响的一级亲属。与大多数早期研究(其中表型由诊断唯一确定)不同,本研究中的表型由一份包含22种精神综合征的列表表示。因此,应用多元统计程序来分析经验列表的内在属性。结果表明,典型的综合征模式在两组人群中均清晰出现,且相应人群样本集的表型等效性处于令人满意到良好之间。此外,基于这22种综合征有可能选择出表型同质且可重复的亚组。这些亚组可作为基础材料,通过数量遗传学的现有模型来研究遗传模式。然而,我们的分析未发现情感障碍或精神分裂症有明显的真实遗传现象。