Heritability estimates for cognitive factors and brain white matter integrity as markers of schizophrenia.
Heritability estimates for cognitive factors and brain white matter integrity as markers of schizophrenia.
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DOI：
10.1002/ajmg.b.31054
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发表时间：
2010-06-05
影响因子：
2.8
通讯作者：
DeLisi, Lynn E.
中科院分区：
文献类型：
--
作者：
Bertisch, Hilary;Li, Dawei;Hoptman, Matthew J.;DeLisi, Lynn E.
最近关注精神分裂症的遗传学研究提出了候选认知和神经影像变量作为该疾病的中间表型或“内表型”标记。除其他严格标准外，要成为内表型，标记必须表现出遗传性。为了探索认知和神经影像内表型选择的有效性，本研究旨在确定其遗传力的估计。 114 名受试者，包括来自 23 个多重精神分裂症家族的 27 名精神分裂症患者和 39 名未受影响的亲属，参加了全面的神经心理学测试电池和扩散张量成像 (DTI) 的结构脑成像。如果先前已证明变量能够显示精神分裂症患者与正常对照者之间的差异，则选择这些变量。整体认知功能（“g”）以及表达性和接受性语言、言语和视觉记忆、处理速度和认知抑制的遗传性的重要证据得到了证实。此外，还确定了额叶、中央、顶叶和枕叶特定区域的显着遗传力估计值。这些结果表明，所选择的变量可能是用于遗传和早期检测研究的有用的内表型，尽管应该对更大的队列进行进一步的研究，以表明这些功能和结构的缺陷也与家庭内的精神分裂症分离，从而完全满足内表型的定义。此外，这里未研究的其他认知和神经影像变量可能是精神分裂症内表型的候选者。
Recent genetics research focusing on schizophrenia has led to candidate cognitive and neuroimaging variables as intermediate phenotypes or “endophenotype” markers for the illness. Among other stringent criteria, to be an endophenotype, a marker must demonstrate heritability. In an effort to explore the validity of a selection of cognitive and neuroimaging endophenotypes, the present study was designed to determine estimates of their heritability. One hundred fourteen subjects, including 27 with schizophrenia and 39 unaffected relatives from 23 multiplex schizophrenia families, participated in a comprehensive neuropsychological test battery and structural brain imaging with diffusion tensor imaging (DTI). Variables were selected if they previously have been demonstrated to show differences between people with schizophrenia and normal controls. Significant evidence of heritability was confirmed for overall cognitive function (“g”), as well as expressive and receptive language, verbal and visual memory, processing speed and cognitive inhibition. In addition, significant heritability estimates were determined for specific regions in the frontal, central, parietal, and occipital areas. These results suggest that the variables chosen may be useful endophenotypes for genetic and early detection studies, although further work with larger cohorts should be conducted to show that deficits in these functions and structures also segregate with schizophrenia within families and thus fully satisfy the definition of an endophenotype. In addition, other cognitive and neuroimaging variables that were not studied here may be candidates for schizophrenia endophenotypes.
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DOI：
10.1080/13638490310001654790
发表时间：
2004-04-01
期刊：
Pediatric rehabilitation
影响因子：
--
作者：
Baron-Cohen, Simon
通讯作者：
Baron-Cohen, Simon
影响因子：
10.6
作者：
Aron, AR;Poldrack, RA
通讯作者：
Poldrack, RA
DOI：
10.1111/j.2517-6161.1995.tb02031.x
发表时间：
1995-01-01
影响因子：
5.8
作者：
BENJAMINI, Y;HOCHBERG, Y
通讯作者：
HOCHBERG, Y
影响因子：
4.5
作者：
Ellison-Wright, Ian;Bullmore, Edward T.
通讯作者：
Bullmore, Edward T.
影响因子：
10.6
作者：
Aukes, Maartje F.;Alizadeh, Behrooz Z.;Kahn, Rene S.
通讯作者：
Kahn, Rene S.