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Phenotypic Dimensions in Psychosis

Faculty of Medicine, University of Coimbra
Project classification

Scientific area

5.1 Psychology


Psychology, special (including therapy for learning, speech, hearing, visual and other physical and mental disabilities)

Project description

Project title

Phenotypic Dimensions in Psychosis

Scientific Coordinator's name:

Ana Telma Pereira

Scientific Coordinator's e-mail:

Principal R&D Unit:

Department of Psychological Medicine, Faculty of Medicine, University of Coimbra

Other R&D Units involved in the project:

Cytogenetics and GenomicsLaboratory Coimbra Hospital and University Centre

Project keyword(s)

Schizophrenia, Bipolar Disorder, Psychosis, Symptom dimensions, Subphenotypes

Short abstract and comments

Schizophrenia/SZ and Bipolar Disorder/BD are characterized by phenotypic and genetic heterogeneity (1). We have developed methodologies and expertise in diagnostic instruments, which are standard in the field (2,3). On the molecular side our work also generated relevant reports, in SZ and BD(eg.4-6), including CNV studies (7,8). The ever-increasing sample sized required by DNA microarrays and GWAS have brought the problem of increased phenotypic heterogeneity. For most complex traits, it will be difficult to reliably identify the hundreds of small effect genes that explain only a small portion of the heritability (9). Association studies are only powerful if the risk alleles are common, or if the OR can be increased by focusing on disease subphenotypes pr symptom dimensions (1), which is the core of this proposal. In psychosis, epidemiologic and molecular genetic studies have revealed a partial genetic overlap between SZ and BD, showing that DSM and ICD categories do not represent etiologic valid entities (10). It is our intention to assess 200 SZ and BD probands and analyse its key phenotypic components/symptom dimensions in order to contribute to a better phenotypic refinement.

Potential uses/indications

In the sample of SZ, BP and SA probands we found OPCRIT-based symptom dimensions such as delusions/hallucinations, disorganization, depression, mania, negative symptoms and disorganization. The symptom dimensions showed reasonable degree of familial aggregation, usefulness and validity as alternative phenotypes for molecular genetic studies of psychoses.



Partner Status: Seeking Partners?


Grant number (QREN, FP7, Eureka, etc)

GAI-FMUC Pereira04.01.13

Last edited on

2015-09-02 11:00:09

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