1 Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008 Oct 147B: 1013-8
PMID 18186075
Title No association between the protein tyrosine phosphatase, receptor-type, Z Polypeptide 1 (PTPRZ1) gene and schizophrenia in the Japanese population.
Abstract NRG1-ERBB signaling influences the risk forschizophreniapathology. A recent study has reported that MAGI1,MAGI2, and protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1; located on 7q31.3) gene products regulate the NRG1-ERBB4 signaling pathway, and PTPRZ1 is associated withschizophreniain a Caucasian population. By applying a gene-based association concept, we analyzed any association between PTPRZ1 tagging SNPs andschizophreniain the Japanese population (576schizophrenics and 768 controls). After linkage disequilibrium analysis, 29 single nucleotide polymorphisms (SNPs) were genotyped using a 5'-exonuclease allelic discrimination assay. We found a significant association of one tagging SNP in a genotype-wise analysis (P = 0.007); however, this might be resulted from type I error due to multiple testing (P = 0.17 after SNPSpD correction). No association was observed betweenschizophrenicpatients and controls in either allelic, genotypic, or haplotypic analyses. Our results therefore suggest that PTPRZ1 is unlikely to be related to the development ofschizophreniain the Japanese population.
SCZ Keywords schizophrenia, schizophrenic, schizophrenics
2 Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008 Oct 147B: 1013-8
PMID 18186075
Title No association between the protein tyrosine phosphatase, receptor-type, Z Polypeptide 1 (PTPRZ1) gene and schizophrenia in the Japanese population.
Abstract NRG1-ERBB signaling influences the risk forschizophreniapathology. A recent study has reported that MAGI1,MAGI2, and protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1; located on 7q31.3) gene products regulate the NRG1-ERBB4 signaling pathway, and PTPRZ1 is associated withschizophreniain a Caucasian population. By applying a gene-based association concept, we analyzed any association between PTPRZ1 tagging SNPs andschizophreniain the Japanese population (576schizophrenics and 768 controls). After linkage disequilibrium analysis, 29 single nucleotide polymorphisms (SNPs) were genotyped using a 5'-exonuclease allelic discrimination assay. We found a significant association of one tagging SNP in a genotype-wise analysis (P = 0.007); however, this might be resulted from type I error due to multiple testing (P = 0.17 after SNPSpD correction). No association was observed betweenschizophrenicpatients and controls in either allelic, genotypic, or haplotypic analyses. Our results therefore suggest that PTPRZ1 is unlikely to be related to the development ofschizophreniain the Japanese population.
SCZ Keywords schizophrenia, schizophrenic, schizophrenics
3 Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008 Oct 147B: 1013-8
PMID 18186075
Title No association between the protein tyrosine phosphatase, receptor-type, Z Polypeptide 1 (PTPRZ1) gene and schizophrenia in the Japanese population.
Abstract NRG1-ERBB signaling influences the risk forschizophreniapathology. A recent study has reported that MAGI1,MAGI2, and protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1; located on 7q31.3) gene products regulate the NRG1-ERBB4 signaling pathway, and PTPRZ1 is associated withschizophreniain a Caucasian population. By applying a gene-based association concept, we analyzed any association between PTPRZ1 tagging SNPs andschizophreniain the Japanese population (576schizophrenics and 768 controls). After linkage disequilibrium analysis, 29 single nucleotide polymorphisms (SNPs) were genotyped using a 5'-exonuclease allelic discrimination assay. We found a significant association of one tagging SNP in a genotype-wise analysis (P = 0.007); however, this might be resulted from type I error due to multiple testing (P = 0.17 after SNPSpD correction). No association was observed betweenschizophrenicpatients and controls in either allelic, genotypic, or haplotypic analyses. Our results therefore suggest that PTPRZ1 is unlikely to be related to the development ofschizophreniain the Japanese population.
SCZ Keywords schizophrenia, schizophrenic, schizophrenics
4 PLoS ONE 2012 -1 7: e36836
PMID 22649501
Title Common variants in MAGI2 gene are associated with increased risk for cognitive impairment in schizophrenic patients.
Abstract schizophreniais a complex psychiatric disorder characterized by positive symptoms, negative symptoms, and cognitive impairment.MAGI2, a relatively large gene (?1.5 Mbps) that maps to chromosome 7q21, is involved in recruitment of neurotransmitter receptors such as AMPA- and NMDA-type glutamate receptors. A genetic association study designed to evaluate the association betweenMAGI2和认知性能rmance orschizophreniahas not been conducted. In this case-control study, we examined the relationship of single nucleotide polymorphism (SNP) variations inMAGI2and risk forschizophreniain a large Japanese sample and explored the potential relationships between variations inMAGI2and aspects of human cognitive function related to glutamate activity. Based on the result of firstschizophreniagenome-wide association study in a Japanese population (JGWAS), we selected four independent SNPs and performed an association study using a large independent Japanese sample set (cases 1624, controls 1621). Wisconsin Card Sorting Test (WCST) was used to evaluate executive function in 114 cases and 91 controls. We found suggestive evidence for genetic association of common SNPs withinMAGI2轨迹和schizophreniain Japanese population. Furthermore in terms of association betweenMAGI2和认知性能rmance, we observed that genotype effect of rs2190665 on WCST score was significant (p?=?0.034) and rs4729938 trended toward significance (p?=?0.08). In conclusion, although we could not detect strong genetic evidence for association of common variants inMAGI2and increasedschizophreniarisk in a Japanese population, these SNPs may increase risk of cognitive impairment inschizophrenicpatients.
SCZ Keywords schizophrenia, schizophrenic, schizophrenics
5 PLoS ONE 2012 -1 7: e36836
PMID 22649501
Title Common variants in MAGI2 gene are associated with increased risk for cognitive impairment in schizophrenic patients.
Abstract schizophreniais a complex psychiatric disorder characterized by positive symptoms, negative symptoms, and cognitive impairment.MAGI2, a relatively large gene (?1.5 Mbps) that maps to chromosome 7q21, is involved in recruitment of neurotransmitter receptors such as AMPA- and NMDA-type glutamate receptors. A genetic association study designed to evaluate the association betweenMAGI2和认知性能rmance orschizophreniahas not been conducted. In this case-control study, we examined the relationship of single nucleotide polymorphism (SNP) variations inMAGI2and risk forschizophreniain a large Japanese sample and explored the potential relationships between variations inMAGI2and aspects of human cognitive function related to glutamate activity. Based on the result of firstschizophreniagenome-wide association study in a Japanese population (JGWAS), we selected four independent SNPs and performed an association study using a large independent Japanese sample set (cases 1624, controls 1621). Wisconsin Card Sorting Test (WCST) was used to evaluate executive function in 114 cases and 91 controls. We found suggestive evidence for genetic association of common SNPs withinMAGI2轨迹和schizophreniain Japanese population. Furthermore in terms of association betweenMAGI2和认知性能rmance, we observed that genotype effect of rs2190665 on WCST score was significant (p?=?0.034) and rs4729938 trended toward significance (p?=?0.08). In conclusion, although we could not detect strong genetic evidence for association of common variants inMAGI2and increasedschizophreniarisk in a Japanese population, these SNPs may increase risk of cognitive impairment inschizophrenicpatients.
SCZ Keywords schizophrenia, schizophrenic, schizophrenics
6 Biol. Psychiatry 2012 May 71: 922-30
PMID 22381734
Title MAGI1 copy number variation in bipolar affective disorder and schizophrenia.
Abstract Bipolar affective disorder (BPAD) andschizophrenia(SZ) are devastating psychiatric disorders that each affect about 1% of the population worldwide. Identification of new drug targets is an important step toward better treatment of these poorly understood diseases.
Genome-wide copy number variation (CNV) was assessed and variants were ranked by co-occurrence with disease in 48 BPAD families. Additional support for involvement of the highest-ranking CNV from the family-based analysis in psychiatric disease was obtained through analysis of 4084 samples with BPAD, SZ, or schizoaffective disorder. Finally, a pooled analysis of in-house and published datasets was carried out including 10,925 cases with BPAD, SZ, or schizoaffective disorder and 16,747 controls.
In the family-based analysis, an approximately 200 kilobase (kb) deletion in the first intron of the MAGI1 gene was identified that segregated with BPAD in a pedigree (six out of six affected individuals; parametric logarithm of the odds score = 1.14). In the pooled analysis, seven additional insertions or deletions over 100 kb were identified in MAGI1 in cases, while only two such CNV events were identified in the same gene in controls (p = .023; Fisher's exact test). Because earlier work had identified a CNV in the close relativeMAGI2in SZ, the study was extended to includeMAGI2. In the pooled analysis ofMAGI2, two large deletions were found in cases, and two duplications were detected in controls.
Results presented herein provide further evidence for a role of MAGI1 andMAGI2in BPAD and SZ etiology.
SCZ Keywords schizophrenia, schizophrenic, schizophrenics
7 Schizophr. Res. 2016 Apr 172: 60-7
PMID 26851141
Title Genome-wide investigation of schizophrenia associated plasma Ndel1 enzyme activity.
Abstract Ndel1 is a DISC1-interacting oligopeptidase that cleaves in vitro neuropeptides as neurotensin and bradykinin, and which has been associated with both neuronal migration and neurite outgrowth. We previously reported that plasma Ndel1 enzyme activity is lower in patients withschizophrenia(SCZ)与健康对照组相比(高碳钢)。我们的knowledge, no previous study has investigated the genetic factors associated with the plasma Ndel1 enzyme activity. In the current analyses, samples from 83 SCZ patients and 92 control subjects that were assayed for plasma Ndel1 enzyme activity were genotyped on Illumina Omni Express arrays. A genetic relationship matrix using genome-wide information was then used for ancestry correction, and association statistics were calculated genome-wide. Ndel1 enzyme activity was significantly lower in patients with SCZ (t=4.9; p<0.001) and was found to be associated with CAMK1D,MAGI2, CCDC25, and GABGR3, at a level of suggestive significance (p<10(-6)), independent of the clinical status. Then, we performed a model to investigate the observed differences for case/control measures. 2 SNPs at region 1p22.2 reached the p<10(-7) level. ZFPM2 and MAD1L1 were the only two genes with more than one hit at 10(-6) order of p value. Therefore, Ndel1 enzyme activity is a complex trait influenced by many different genetic variants that may contribute to SCZ physiopathology.
SCZ Keywords schizophrenia, schizophrenic, schizophrenics
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