https://scholars.lib.ntu.edu.tw/handle/123456789/198579
標題: | More Evidence Supports the Association of Ppp3cc with Schizophrenia | 作者: | LIU, YU-LI FANN, CATHY SHENG-JIUAN LIU, CHIH-MIN 陳為堅 |
關鍵字: | calcineurin;PPP3CC;calcineurin A gamma;8p21.3;SNP | 公開日期: | 2007 | 卷: | v.12 | 期: | n.10 | 起(迄)頁: | 966-974 | 來源出版物: | MOLECULAR PSYCHIATRY | 摘要: | 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, ten 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 (rs 2272080) 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 p=0.015, respectively). In further endophenotype stratification, the single locus of rs2272080 and the haplotypes of both two-SNP haplotype (rs7833266-rs 2272080) and seven-SNP haplotype (rs 2461491- rs2469758- rs 2461489- 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. |
URI: | http://ntur.lib.ntu.edu.tw//handle/246246/89580 |
顯示於: | 醫學系 |
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