Diagnostic accuracy and linkage analysis: how useful are schizophrenia spectrum phenotypes?
Diagnostic accuracy and linkage analysis: how useful are schizophrenia spectrum phenotypes?
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诊断准确性和连锁分析：精神分裂症谱系表型有多大用处？
DOI：
10.1176/ajp.152.9.1286
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发表时间：
1995
期刊：
影响因子：
--
通讯作者：
Tsuang,MT
中科院分区：
文献类型：
--
作者：
Faraone,SV;Kremen,WS;Lyons,MJ;Pepple,JR;Seidman,LJ;Tsuang,MT
许多研究表明，精神分裂症患者的非精神分裂症亲属表现出精神病和其他特征，将他们与正常对照对象区分开来。这些特征被认为是精神分裂症基因型的变异表现。然而，大多数这些研究没有解决一个关键的测量问题：这些光谱分类的诊断准确性是否保证他们在精神分裂症的遗传连锁研究中的使用？作者回顾了30项关于精神分裂症基因型推定指标的研究：典型人格障碍、眼动追踪功能障碍、注意力障碍、听觉诱发电位、神经系统体征、神经心理障碍和暗示性思维。结果虽然这些指标的42项测量中的每一项都能将精神分裂症患者的亲属与正常对照受试者区分开来，一个诊断准确性分析表明，只有六个这些将提高信息的遗传连锁data.ConclusionsMany提出的频谱表型精神分裂症可能是没有用的连锁分析，因为高假阳性率（特异性差）。未来的工作，旨在描述和发展连锁分析的表型，应评估建议措施的诊断准确性。
ObjectiveNumerous studies suggest that the nonschizophrenic relatives of schizophrenic patients exhibit psychiatric and other features that discriminate them from normal comparison subjects. These features have been put forth as" spectrum" phenotypes that may be variant manifestations of the schizophrenia genotype. However, most of these studies do not address a key measurement question: does the diagnostic accuracy of these spectrum classifications warrant their use in genetic linkage studies of schizophrenia?MethodThe authors reviewed 30 studies of putative indicators of the schizophrenic genotype: schizotypal personality disorder, eye tracking dysfunction, attentional impairment, auditory evoked potentials, neurological signs, neuropsychological impairment, and allusive thinking.ResultsAlthough each of 42 measures of these indicators discriminated the relatives of schizophrenic patients from the normal comparison subjects, a diagnostic accuracy analysis suggested that only six of these would improve the informativeness of genetic linkage data.ConclusionsMany proposed spectrum phenotypes for schizophrenia may not be useful for linkage analysis because of high false positive rates (poor specificity). Future work aimed at describing and developing phenotypes for linkage analysis should assess the diagnostic accuracy of proposed measures.