Международный журнал неотложной психической помощи и устойчивости человека

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The Importance of Research on the Relatives of Schizophrenia Patients - Towards Endophenotypic Markers

Tamás Tényi MD., PhD, András Hajnal MD. and Györgyi Csábi MD., PhD

The endophenotype concept of schizophrenia represents an important approach in the exploration of the neurobiology of the illness. Gottesman and Shields (2003) described an endophenotype as an internal, intermediate phenotype (i.e., not obvious to the unaided eye) that fills the gap between genes and diseases. Endophenotypes should be: (1) associated with the illness in the population, (2) heritable, (3) state-independent, (4) found in unaffected family members at a higher rate than in the general population, and (5) shown to cosegregate with the illness within families. As we can see an important characteristic of an endophenotype, that it can be found among the healthy, first-degree relatives of patients with schizophrenia. Minor physical anomalies (MPAs) and social cognition (SG) are suggested as endophenotypes on account of the findings that MPAs and SG deficits are more common in schizophrenia patients than in healthy controls, which can be found also in remission and in few studies higher prevalences were found in healthy first-degree relatives