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A novel missense mutation in the transmembrane domain of neuregulin 1 is associated with schizophrenia

dc.creatorWalss Bass, Consuelo
dc.creatorLiu, Wei
dc.creatorLew, Debbie Fay
dc.creatorVillegas Palma, Ramón
dc.creatorMontero Vega, Ana Patricia
dc.creatorDassori, Albana Maria
dc.creatorLeach, Robin Jean
dc.creatorAlmasy, Laura
dc.creatorEscamilla, Michael A.
dc.creatorRaventós Vorst, Henriette
dc.date.accessioned2024-12-11T14:49:53Z
dc.date.available2024-12-11T14:49:53Z
dc.date.issued2006-05-30
dc.description.abstractBackground. Although genetic factors are known to play an important role in schizophrenia, the identification of genes involved in this disorder has remained elusive. The neuregulin 1 gene is among the few candidate genes to have been implicated in schizophrenia susceptibility in several populations. However, no causal mutations within this gene have been identified. Methods. In attempts to identify polymorphisms within the neuregulin 1 gene, we performed DNA sequencing using 12 subjects with a history of psychosis from the Central Valley of Costa Rica. DNA genotyping and association studies were then performed in an extended cohort of 142 affected individuals and their relatives from the same population. Results. We identified a novel missense mutation (Val to Leu) in exon 11, which codes for the transmembrane region of the neuregulin 1 protein. Association analysis by the Family Based Association Test (FBAT) revealed that this mutation is associated with psychosis (p = .0049) and schizophrenia (p = .0191) in this population. Conclusions. We report the finding of a missense mutation in the neuregulin 1 gene associated with schizophrenia. Additional analyses of an independent sample as well as detailed functional studies should be performed to determine the relevance of this novel polymorphism to the pathophysiology of schizophrenia.
dc.description.procedenceUCR::Vicerrectoría de Investigación::Unidades de Investigación::Ciencias Básicas::Centro de Investigación en Biología Celular y Molecular (CIBCM)
dc.description.procedenceUCR::Vicerrectoría de Docencia::Ciencias Básicas::Facultad de Ciencias::Escuela de Biología
dc.description.sponsorshipInstituto Nacional de Salud/[R01-MH61884]/NIH/Estados Unidos
dc.description.sponsorshipInternational Center for Genetic Engineering and Biotechnology/[CRP/COS98-01]/ICGEB/Italia
dc.description.sponsorshipBrain & Behavior Research Foundation/[]/BBRF/Estados Unidos
dc.identifier.doihttps://doi.org/10.1016/j.biopsych.2006.03.017
dc.identifier.issn0006-3223
dc.identifier.issn1873-2402
dc.identifier.urihttps://hdl.handle.net/10669/100251
dc.language.isoeng
dc.rightsacceso restringido
dc.sourceBiological Psychiatry, 60(6), 548-553
dc.subjectNeuregulin
dc.subjectschizophrenia
dc.subjectpsychosis
dc.subjectpolymorphism
dc.subjectCentral Valley of Costa Rica
dc.titleA novel missense mutation in the transmembrane domain of neuregulin 1 is associated with schizophrenia
dc.typeartículo original

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