Department of Psychiatry, University of California at San Diego, 9500 Gilman Drive, La Jolla, CA 92093-0804, USA.
World Psychiatry. 2008 Feb;7(1):11-8. doi: 10.1002/j.2051-5545.2008.tb00140.x.
The search for the genetic architecture of schizophrenia has employed multiple, often converging strategies. One such strategy entails the use of tracing the heritability and neurobiology of endophenotypes. Endophenotypes are quantifiable traits not visible to the eye, which are thought to reflect an intermediate place on the path from genes to disorder. Endophenotype abnormalities in domains such as neurophysiology or neurocognition occur in schizophrenia patients as well as their clinically "unaffected" relatives, and reflect polymorphisms in the DNA of schizophrenia spectrum subjects which create vulnerability to developing schizophrenia. By identifying the single nucleotide polymorphisms (SNPs) associated with endophenotypes in schizophrenia, psychiatric neuroscientists can select new strong inference based molecular targets for the treatment of schizophrenia.
寻找精神分裂症的遗传结构采用了多种策略，这些策略往往是相互融合的。其中一种策略是利用追踪可遗传性和神经生物学的内表型。内表型是不可见的量化特征，被认为反映了从基因到疾病的中间途径。在神经生理学或神经认知等领域，精神分裂症患者及其临床“未受影响”的亲属存在内表型异常，反映了精神分裂症谱系受试者的 DNA 多态性，这些多态性导致他们易患精神分裂症。通过识别与精神分裂症内表型相关的单核苷酸多态性（SNPs），精神神经科学家可以选择新的、基于强推断的分子靶点来治疗精神分裂症。
