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首页> 外文期刊>The British journal of psychiatry : >Phenotypic and genetic complexity of psychosis. Invited commentary on ... Schizophrenia: a common disease caused by multiple rare alleles.
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Phenotypic and genetic complexity of psychosis. Invited commentary on ... Schizophrenia: a common disease caused by multiple rare alleles.

机译：精神病的表型和遗传复杂性。特此评论。精神分裂症：由多个罕见等位基因引起的常见疾病。

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摘要

Psychosis, like other major psychiatric disorders, is both genetically and clinically complex. Increasingly powerful molecular genetic studies have the potential to identify DNA variation that influences susceptibility to genetically complex disorders. There is a need to use a range of genetic approaches appropriate to identifying a spectrum of risk variants from the common through to the rare. Some variants might have large effects at the level of the individual but most are likely to have modest or small effects at both population and individual level. Extensive clinical heterogeneity is likely to have a significant impact on the power of even the largest studies and, more importantly, will lead to extensive variability between studies and hamper attempts at replication. If we are to realise the potential of molecular genetics, we need to overcome the major limitations imposed by current psychiatric diagnostic classifications and identify clinical phenotypes that reflect the presence of underlying entities with biological validity.
机译：像其他主要精神疾病一样，精神病在遗传和临床上都很复杂。日益强大的分子遗传学研究有潜力识别影响遗传复杂疾病易感性的DNA变异。有必要使用各种遗传方法来鉴定从常见到罕见的各种风险变体。一些变体在个体层面上可能会产生重大影响，但大多数变体在种群和个体层面上都可能产生适度或较小的影响。广泛的临床异质性甚至可能对最大型的研究产生重大影响，更重要的是，这将导致研究之间的广泛差异，并阻碍复制尝试。如果要实现分子遗传学的潜力，我们需要克服当前精神病学诊断分类所施加的主要限制，并确定反映具有生物学有效性的基本实体的临床表型。

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