Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia

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dc.contributor.authorVacic, Vladimir
dc.contributor.authorMcCarthy, Shane
dc.contributor.authorMalhotra, Dheeraj
dc.contributor.authorMurray, Fiona
dc.contributor.authorChou, Hsun-Hua
dc.contributor.authorPeoples, Aine
dc.contributor.authorMakarov, Vladimir
dc.contributor.authorYoon, Seungtai
dc.contributor.authorBhandari, Abhishek
dc.contributor.authorCorominas, Roser
dc.contributor.authorIakoucheva, Lilia M.
dc.contributor.authorKrastoshevsky, Olga
dc.contributor.authorKrause, Verena
dc.contributor.authorLarach-Walters, Verãnica
dc.contributor.authorWelsh, David K.
dc.contributor.authorCraig, David
dc.contributor.authorKelsoe, John R.
dc.contributor.authorGershon, Elliot S.
dc.contributor.authorLeal, Suzanne M.
dc.contributor.authorAquila, Marie Dell
dc.contributor.authorMorris, Derek W.
dc.contributor.authorGill, Michael
dc.contributor.authorCorvin, Aiden
dc.contributor.authorInsel, Paul A.
dc.contributor.authorMcClellan, Jon
dc.contributor.authorKing, Mary-Claire
dc.contributor.authorKarayiorgou, Maria
dc.contributor.authorLevy, Deborah L.
dc.contributor.authorDelisi, Lynn E.
dc.contributor.authorSebat, Jonathan
dc.date.accessioned2024-06-27T00:33:44Z
dc.date.available2024-06-27T00:33:44Z
dc.date.issued2011-03-24
dc.descriptionINDEXACIÓN: SCOPUS.
dc.description.abstractRare copy number variants (CNVs) have a prominent role in the aetiology of schizophrenia and other neuropsychiatric disorders. Substantial risk for schizophrenia is conferred by large (>500-kilobase) CNVs at several loci, including microdeletions at 1q21.1 (ref. 2), 3q29 (ref. 3), 15q13.3 (ref. 2) and 22q11.2 (ref. 4) and microduplication at 16p11.2 (ref. 5). However, these CNVs collectively account for a small fraction (2-4%) of cases, and the relevant genes and neurobiological mechanisms are not well understood. Here we performed a large two-stage genome-wide scan of rare CNVs and report the significant association of copy number gains at chromosome 7q36.3 with schizophrenia. Microduplications with variable breakpoints occurred within a 362-kilobase region and were detected in 29 of 8,290 (0.35%) patients versus 2 of 7,431 (0.03%) controls in the combined sample. All duplications overlapped or were located within 89 kilobases upstream of the vasoactive intestinal peptide receptor gene VIPR2. VIPR2 transcription and cyclic-AMP signalling were significantly increased in cultured lymphocytes from patients with microduplications of 7q36.3. These findings implicate altered vasoactive intestinal peptide signalling in the pathogenesis of schizophrenia and indicate the VPAC2 receptor as a potential target for the development of new antipsychotic drugs. © 2011 Macmillan Publishers Limited. All rights reserved.
dc.identifier.citationNature, Volume 471, Issue 7339, Pages 499 - 503, 24 March 2011
dc.identifier.doi10.1038/nature09884
dc.identifier.issn1476-4687
dc.identifier.urihttps://repositorio.unab.cl/handle/ria/57999
dc.language.isoen
dc.publisherNature Research
dc.rights.licenseCC BY 4.0 ATRIBUCIÓN 4.0 INTERNACIONAL Deed
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/deed.es
dc.subjectCell Line
dc.subjectChromosomes, Human, Pair 7
dc.subjectCohort Studies
dc.subjectCyclic AMP
dc.subjectDNA Copy Number Variations
dc.subjectFemale
dc.subjectGene Dosage
dc.subjectGenes, Duplicate
dc.subjectGenetic Predisposition to Disease
dc.subjectGenome-Wide Association Study
dc.subjectHumans
dc.subjectInheritance Patterns
dc.subjectMale
dc.subjectPedigree
dc.subjectReceptors, Vasoactive Intestinal Peptide, Type II
dc.subjectReproducibility of Results
dc.subjectSchizophrenia
dc.subjectSignal Transduction
dc.subjectTranscription, Genetic
dc.titleDuplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia
dc.typeArtículo
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