Massachusetts Mental Health Center Public Psychiatry Division of the Beth Israel Deaconess Medical Center, Harvard Medical School Department of Psychiatry, Boston, MA 02215, USA.
Schizophr Res. 2011 May;128(1-3):102-10. doi: 10.1016/j.schres.2011.01.005. Epub 2011 Feb 1.
Genetic studies of schizophrenia focus increasingly on putative endophenotypes because their genetic etiology may be simpler than clinical diagnosis. The Consortium on the Genetics of Schizophrenia (COGS), a multisite family study, aims to identify the genetic basis of several endophenotypes including verbal declarative memory (VDM), a neurocognitive function that shows robust impairment in schizophrenia. We present data on one type of measure of VDM, the California Verbal Learning Test, Second Edition (CVLT-II), in schizophrenia probands (n=305), their full biological siblings (n=449) and parents (n=232), and in community comparison subjects (CCS; n=509) across seven sites. Probands performed more poorly on each of five CVLT-II measures compared to related sibling and parent groups and CCS. Siblings and parents performed significantly worse than CCS on one measure (Discriminability), but with smaller effect sizes and less impairment than observed previously. The results raise questions about the homogeneity of VDM as an endophenotype, about methodological issues related to sampling, and about psychometric issues that impact the utility of the CVLT for detecting VDM deficits in nonpsychotic relatives of persons with schizophrenia.
精神分裂症的遗传学研究越来越关注假定的内表型，因为它们的遗传病因可能比临床诊断更简单。精神分裂症遗传学联合会（COGS）是一项多地点的家族研究，旨在确定包括言语陈述性记忆（VDM）在内的几种内表型的遗传基础，VDM 是一种神经认知功能，在精神分裂症中表现出明显的损伤。我们在七个地点提供了有关 VDM 的一种测量方法——加利福尼亚言语学习测验第二版（CVLT-II）的精神分裂症先证者（n=305）、其全血缘兄弟姐妹（n=449）和父母（n=232）以及社区对照组（CCS；n=509）的数据。与相关的兄弟姐妹和父母群体以及 CCS 相比，先证者在 CVLT-II 的五个测量指标中的每一个上的表现都较差。兄弟姐妹和父母在一个指标（辨别力）上的表现明显比 CCS 差，但效应大小较小，损伤程度也低于之前的观察结果。这些结果对内表型的 VDM 的同质性、与采样相关的方法学问题以及对 CVLT 用于检测精神分裂症患者非精神病亲属的 VDM 缺陷的心理计量学问题提出了质疑。
