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More evidence supports the association of PPP3CC with schizophrenia.
Liu, Y L; Fann, C S J; Liu, C M; Chang, C C; Yang, W C; Hung, S I; Yu, S L; Hwang, T J; Hsieh, M H; Liu, C C; Tsuang, M M; Wu, J Y; Jou, Y S; Faraone, S V; Tsuang, M T; Chen, W J; Hwu, H-G.
Afiliação
  • Liu YL; Division of Mental Health and Substance Abuse Research, National Health Research Institutes, Taipei, Taiwan.
Mol Psychiatry ; 12(10): 966-74, 2007 Oct.
Article em En | MEDLINE | ID: mdl-17339875
ABSTRACT
Calcineurin is a calcium/calmodulin-dependent protein phosphatase composed of two subunits, a regulatory subunit of calcineurin B (CNB) and a catalytic subunit of calcineurin A (CNA). PPP3CC is the gamma isoform of CNA located at the chromosome 8p21.3 region. To evaluate the association between PPP3CC and schizophrenia in the Taiwanese population, 10 single nucleotide polymorphism (SNP) markers across the gene were genotyped by the method of MALDI-TOF in 218 schizophrenia families with at least two affected siblings. One SNP (rs2272080) located around the exon 1 untranslated region was nominally associated with schizophrenia (P=0.024) and significantly associated with the expression of PPP3CC in lymphoblast cell line; the TT and TG genotype had significantly higher relative expression levels than the GG genotype (P=0.0012 and 0.015, respectively). In further endophenotype stratification, the single locus of rs2272080 and the haplotypes of both two-SNP haplotype (rs7833266-rs2272080) and seven-SNP haplotype (rs2461491-rs2469758-rs2461489-rs2469770-rs2449340-rs1482337-rs2252471) showed significant associations with the subgroup of schizophrenia with deficits of the sustained attention as tested by the continuous performance test (CPT, P<0.05) and the executive functioning as tested by the Wisconsin Card Sorting Test (WCST, P<0.05). The results suggest that PPP3CC gene may be a true susceptibility gene for schizophrenia.
Assuntos
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Esquizofrenia / Calcineurina / Predisposição Genética para Doença / Polimorfismo de Nucleotídeo Único Tipo de estudo: Observational_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Mol Psychiatry Assunto da revista: BIOLOGIA MOLECULAR / PSIQUIATRIA Ano de publicação: 2007 Tipo de documento: Article País de afiliação: Taiwan
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Esquizofrenia / Calcineurina / Predisposição Genética para Doença / Polimorfismo de Nucleotídeo Único Tipo de estudo: Observational_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Mol Psychiatry Assunto da revista: BIOLOGIA MOLECULAR / PSIQUIATRIA Ano de publicação: 2007 Tipo de documento: Article País de afiliação: Taiwan