Leboyer M
Service de psychiatrie adulte, CHU Albert Chenevier et Henri Mondor, Université Paris XII, Créteil, France.
Dialogues Clin Neurosci. 2001 Jun;3(2):99-108. doi: 10.31887/DCNS.2001.3.2/mleboyer.
Genetic epidemiology has provided consistent evidence that schizophrenia has a genetic component It is now clear that this genetic component is complex and polygenic, with several genes interacting in epistasis. Although molecular studies have failed to identify any DNA variant that clearly contributes to vulnerability to schizophrenia, several regions have been implicated by linkage studies. To overcome the difficulties in the search for schizophrenia genes, it is necessary (i) to use methods of analysis that are appropriate for complex multifactorial disorders; (ii) to gather large enough clinical samples; and (iii) in the absence of genetic validity of the diagnostic classification currently used, to apply new strategies in order to better define the affected phenotypes. For this purpose, we describe here two strategies: (i) the candidate symptom approach, which concerns affected subjects and uses proband characteristics as the affected phenotype, such as age at onset, severity, and negative/positive symptoms; and (ii) the endophenotypic approach, which concerns unaffected relatives and has already provided positive findings with phenotypes, such as P50 inhibitory gating or eye-movement dysfunctions.
遗传流行病学已提供了一致的证据,表明精神分裂症具有遗传因素。现在很清楚的是,这种遗传因素是复杂且多基因的,有几个基因在上位效应中相互作用。尽管分子研究未能确定任何能明确导致精神分裂症易感性的DNA变异,但连锁研究已表明了几个相关区域。为克服寻找精神分裂症基因的困难,有必要:(i)使用适合复杂多因素疾病的分析方法;(ii)收集足够大的临床样本;以及(iii)鉴于目前使用的诊断分类缺乏遗传有效性,应用新策略以便更好地定义受影响的表型。为此,我们在此描述两种策略:(i)候选症状方法,该方法针对受影响的个体,并将先证者特征用作受影响的表型,如发病年龄、严重程度以及阴性/阳性症状;(ii)内表型方法,该方法针对未受影响的亲属,并且已在内表型(如P50抑制性门控或眼球运动功能障碍)方面取得了阳性结果。