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Diagnostic accuracy and linkage analysis: how useful are schizophrenia spectrum phenotypes?
S V Faraone1, W S Kremen, M J Lyons
1Harvard Medical School Department of Psychiatry, Massachusetts Mental Health Center, Boston, USA.
The American Journal of Psychiatry
|September 1, 1995
Summary
Many schizophrenia spectrum phenotypes may not be useful for genetic studies. High false positive rates limit their diagnostic accuracy, potentially reducing the informativeness of genetic linkage data for schizophrenia research.
Area of Science:
- Psychiatry
- Genetics
- Neuroscience
Background:
- Nonschizophrenic relatives of schizophrenia patients often display distinct traits.
- These traits are considered potential
- spectrum
- phenotypes, possibly reflecting the schizophrenia genotype.
Purpose of the Study:
- To evaluate the diagnostic accuracy of proposed schizophrenia spectrum phenotypes.
- To determine if these phenotypes are sufficiently informative for genetic linkage studies of schizophrenia.
Main Methods:
- A systematic review of 30 studies examining indicators of the schizophrenia genotype.
- Analysis of 42 measures including schizotypal personality disorder, eye tracking, and cognitive impairments.
Main Results:
- All 42 measures differentiated relatives from controls.
- Diagnostic accuracy analysis revealed only six measures would enhance genetic linkage data informativeness.
Conclusions:
- Many proposed schizophrenia spectrum phenotypes exhibit poor specificity (high false positive rates).
- These phenotypes may not be suitable for linkage analysis.
- Future research must prioritize assessing diagnostic accuracy for phenotype development in genetic studies.