Neuropsychological performance as endophenotypes in extended schizophrenia families from the Central Valley of Costa Rica.
Neuropsychological performance as endophenotypes in extended schizophrenia families from the Central Valley of Costa Rica.
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DOI：
10.1097/ypg.0b013e3283202816
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发表时间：
2009-03
影响因子：
0.9
通讯作者：
Pritzker Neuropsychiatric Research Consortium
中科院分区：
文献类型：
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作者：
Bertisch H;Mesen-Fainardi A;Martin MV;Pérez-Vargas V;Vargas-Rodríguez T;Delgado G;Delgado C;Llach M;LaPrade B;Byerley W;Bunney WE;Vawter MP;DeLisi LE;Pritzker Neuropsychiatric Research Consortium
对精神分裂症等复杂的遗传性精神疾病的理解可以通过检查遗传隔离人群中的内表型来澄清，例如在哥斯达黎加中央山谷发现的人群。减少样本内的家族变异性可以使疾病的认知和症状表现与遗传基础之间的关系变得更加可观察。本研究调查了哥斯达黎加中央山谷西班牙裔人口中四个扩展多元家族的41个家庭成员的神经心理测试表现，作为遗传研究的潜在内表型。诊断为精神分裂症或分裂情感性障碍的个体与未受影响的亲属和15名没有精神分裂症家族史的无关对照进行比较。虽然样本量很小，但结果证实了先前文献中关于精神分裂症患者与对照组相比在工作记忆、执行功能、处理速度和语言流畅性方面的缺陷，以及非精神病家庭成员与对照组相比在工作记忆、执行功能、处理速度和语言流畅性方面的缺陷。我们还发现了几个暗示性的定量认知性状位点，其对数的赔率大于1.75。这些发现表明，精神分裂症的认知缺陷是该疾病的一致方面，尽管它们作为遗传研究的内表型的用处尚不清楚。
The understanding of complex heritable psychiatric disorders such as schizophrenia could be clarified by examining endophenotypes within genetically isolated populations, such as the one found in the Central Valley of Costa Rica. The reduction of familial variability within a sample could allow the relationship between the cognitive and symptomatic manifestations of the illness and the genetic underpinnings to become more observable. This study investigates the neuropsychological test performances of 41 family members from four extended multiplex families within the Spanish origin population of the Central Valley of Costa Rica as potential endophenotypes for genetic studies. Individuals with a diagnosis of schizophrenia or schizoaffective disorder were compared with unaffected relatives and 15 unrelated controls with no family history of schizophrenia. Although the sample size is small, the results confirm previous reports in the literature of deficits in working memory, executive function, processing speed, and verbal fluency in individuals with schizophrenia compared with controls and intermediate performance in nonpsychotic family members compared with controls. We also found several suggestive quantitative cognitive trait loci with log of the odds greater than 1.75. These findings suggest that the cognitive deficits in schizophrenia are consistent aspects of the illness, although their usefulness as endophenotypes for genetic studies remains unclear.