Evidence for association of schizophrenia with genetic variation in the 8p21.3 gene, PPP3CC, encoding the calcineurin gamma subunit

David J. Gerber, Diana Hall, Tsuyoshi Miyakawa, Sandra Demars, Joseph A. Gogos, Maria Karayiorgou, Susumu Tonegawa

Research output: Contribution to journalArticle

203 Citations (Scopus)

Abstract

Schizophrenia is a severe psychiatric disorder characterized by a complex mode of inheritance. Forebrain-specific CNB knockout mice display a spectrum of behavioral abnormalities related to altered behaviors observed in schizophrenia patients. To examine whether calcineurin dysfunction is involved in schizophrenia etiology, we undertook studies of an initial subset of calcineurin-related genes, prioritizing ones that map to loci previously implicated in schizophrenia by linkage studies. Transmission disequilibrium studies in a large sample of affected families detected association of the PPP3CC gene, which encodes the calcineurin γ catalytic subunit, with disease. Our results identify PPP3CC, located at 8p21.3, as a potential schizophrenia susceptibility gene and support the proposal that alterations in calcineurin signaling contribute to schizophrenia pathogenesis.

Original languageEnglish
Pages (from-to)8993-8998
Number of pages6
JournalProceedings of the National Academy of Sciences of the United States of America
Volume100
Issue number15
DOIs
Publication statusPublished - 22-07-2003
Externally publishedYes

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Calcineurin
Schizophrenia
Genes
Prosencephalon
Knockout Mice
Psychiatry
Catalytic Domain

All Science Journal Classification (ASJC) codes

  • General

Cite this

Gerber, David J. ; Hall, Diana ; Miyakawa, Tsuyoshi ; Demars, Sandra ; Gogos, Joseph A. ; Karayiorgou, Maria ; Tonegawa, Susumu. / Evidence for association of schizophrenia with genetic variation in the 8p21.3 gene, PPP3CC, encoding the calcineurin gamma subunit. In: Proceedings of the National Academy of Sciences of the United States of America. 2003 ; Vol. 100, No. 15. pp. 8993-8998.
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Evidence for association of schizophrenia with genetic variation in the 8p21.3 gene, PPP3CC, encoding the calcineurin gamma subunit. / Gerber, David J.; Hall, Diana; Miyakawa, Tsuyoshi; Demars, Sandra; Gogos, Joseph A.; Karayiorgou, Maria; Tonegawa, Susumu.

In: Proceedings of the National Academy of Sciences of the United States of America, Vol. 100, No. 15, 22.07.2003, p. 8993-8998.

Research output: Contribution to journalArticle

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AB - Schizophrenia is a severe psychiatric disorder characterized by a complex mode of inheritance. Forebrain-specific CNB knockout mice display a spectrum of behavioral abnormalities related to altered behaviors observed in schizophrenia patients. To examine whether calcineurin dysfunction is involved in schizophrenia etiology, we undertook studies of an initial subset of calcineurin-related genes, prioritizing ones that map to loci previously implicated in schizophrenia by linkage studies. Transmission disequilibrium studies in a large sample of affected families detected association of the PPP3CC gene, which encodes the calcineurin γ catalytic subunit, with disease. Our results identify PPP3CC, located at 8p21.3, as a potential schizophrenia susceptibility gene and support the proposal that alterations in calcineurin signaling contribute to schizophrenia pathogenesis.

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