Birkett P, Sigmundsson T, Sharma T, Toulopoulou T, Griffiths T D, Reveley A, Murray R
University of Sheffield, Sheffield, South Yorkshire, United Kingdom.
Am J Med Genet B Neuropsychiatr Genet. 2008 Apr 5;147(3):285-93. doi: 10.1002/ajmg.b.30594.
Executive cognitive impairment has been found in families affected by schizophrenia and is a putative endophenotype. We wished to explore its genetic basis further by studying the association between impairment and genetic loading for schizophrenia. We studied 30 schizophrenia patients with a family history of schizophrenia, 53 of their nonpsychotic first-degree relatives (familial), 32 patients with schizophrenia but no known family history of psychosis, 52 of their first-degree relatives (nonfamilial), and 47 normal controls. They were tested using the National Adult Reading Test (NART), Trails A and B, Verbal fluency tasks, and a computerized version of the Wisconsin Card Sorting Test (WCST). Familial, but not nonfamilial, relatives were impaired on NART, letter fluency, Trails B, and WCST total errors. They were inferior to nonfamilial relatives on letter fluency and Trails A. Both sets of relatives were impaired on Trails B controlling for Trails A, and on WCST categories achieved. There were no significant differences between schizophrenia patients with and without a family history. Our results suggest that executive deficits qualitatively similar to those seen in those with schizophrenia reflect familial susceptibility, even taking early IQ and education into consideration, consistent with a genetic mechanism.
在受精神分裂症影响的家族中已发现执行认知功能障碍,它被认为是一种潜在的内表型。我们希望通过研究这种障碍与精神分裂症遗传负荷之间的关联,进一步探索其遗传基础。我们研究了30名有精神分裂症家族史的精神分裂症患者、他们53名无精神病的一级亲属(家族性)、32名有精神分裂症但无已知精神病家族史的患者、他们52名一级亲属(非家族性)以及47名正常对照者。使用国家成人阅读测验(NART)、连线测验A和B、言语流畅性任务以及威斯康星卡片分类测验(WCST)的计算机版本对他们进行测试。家族性亲属而非非家族性亲属在NART、字母流畅性、连线测验B和WCST总错误数方面存在障碍。他们在字母流畅性和连线测验A上不如非家族性亲属。在控制了连线测验A的情况下,两组亲属在连线测验B以及达到的WCST类别方面均存在障碍。有家族史和无家族史的精神分裂症患者之间没有显著差异。我们的结果表明,即使考虑到早期智商和教育情况,与精神分裂症患者所见性质相似的执行功能缺陷反映了家族易感性,这与遗传机制一致。