| 1 | Mol. Psychiatry 2011 Nov 16: 1117-29 |
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| PMID | 20838396 |
| Title | GWA研究数据挖掘和独立replication identify cardiomyopathy-associated 5 (CMYA5) as a risk gene for schizophrenia. |
| Abstract | We conducted data-mining analyses using the Clinical Antipsychotic Trials of Intervention Effectiveness (CATIE) and molecular genetics ofschizophreniagenome-wide association study supported by the genetic association information network (MGS-GAIN)schizophreniadata sets and performed bioinformatic prioritization for all the markers with P-values ?0.05 in both data sets. In this process, we found that in theCMYA5gene, there were two non-synonymous markers, rs3828611 and rs10043986, showing nominal significance in both the CATIE and MGS-GAIN samples. In a combined analysis of both the CATIE and MGS-GAIN samples, rs4704591 was identified as the most significant marker in the gene. Linkage disequilibrium analyses indicated that these markers were in low LD (3?828?611-rs10043986, r(2)=0.008; rs10043986-rs4704591, r(2)=0.204). In addition,CMYA5was reported to be physically interacting with the DTNBP1 gene, a promising candidate forschizophrenia, suggesting thatCMYA5may be involved in the same biological pathway and process. On the basis of this information, we performed replication studies for these three single-nucleotide polymorphisms. The rs3828611 was found to have conflicting results in our Irish samples and was dropped out without further investigation. The other two markers were verified in 23 other independent data sets. In a meta-analysis of all 23 replication samples (family samples, 912 families with 4160 subjects; case-control samples, 11?380 cases and 15?021 controls), we found that both markers are significantly associated withschizophrenia(rs10043986, odds ratio (OR)=1.11, 95% confidence interval (CI)=1.04-1.18, P=8.2 � 10(-4) and rs4704591, OR=1.07, 95% CI=1.03-1.11, P=3.0 � 10(-4)). The results were also significant for the 22 Caucasian replication samples (rs10043986, OR=1.11, 95% CI=1.03-1.17, P=0.0026 and rs4704591, OR=1.07, 95% CI=1.02-1.11, P=0.0015). Furthermore, haplotype conditioned analyses indicated that the association signals observed at these two markers are independent. On the basis of these results, we concluded thatCMYA5is associated withschizophreniaand further investigation of the gene is warranted. |
| SCZ Keywords | schizophrenia |
| 2 | Schizophr. Res. 2011 Jul 129: 217-9 |
| PMID | 21295948 |
| Title | A common variant of the cardiomyopathy associated 5 gene (CMYA5) is associated with schizophrenia in Chinese population. |
| Abstract | -1 |
| SCZ Keywords | schizophrenia |
| 3 | Prog. Neuropsychopharmacol. Biol. Psychiatry 2013 Oct 46: 64-9 |
| PMID | 23778016 |
| Title | 遗传分析的常见变异CMYA5 (cardiomyopathy-associated 5) gene with schizophrenia. |
| Abstract | Recently,CMYA5was suggested as a susceptibility gene forschizophreniabased on two independent studies utilizing different ethnic samples. We designed a case-control study to examine whether 21 SNPs contained withinCMYA5were associated with the disorder in a western Han Chinese sample comprised of 488schizophreniapatients and 516 healthy control subjects. The allele distribution of SNPs rs7714250, rs16877135 and rs13158477 showed significant association withschizophrenia(Puncorrected=0.008, Puncorrected=0.04, and Puncorrected=0.009, respectively) as well as the genotype distribution in the Cochran-Armitage trend test (Puncorrected=0.008, Puncorrected=0.037 and Puncorrected=0.011, respectively). After Bonferroni correction, rs7714250 showed a trend of association withschizophreniaboth in allele distribution (Pcorrected=0.088) and genotype distribution (Pcorrected=0.088). Furthermore, significant associations were found in several two-, three-, four-, and five-SNP tests of haplotype analyses. Replications of the association ofCMYA5withschizophreniaacross various studies suggest that it is very likely a potential commonschizophrenia-related gene worldwide. Functional studies correlatingCMYA5with DTNBP1 and PKA warrant further investigation of the molecular basis of this gene in relationship to the signal transduction pathway(s) underlying the pathogenesis ofschizophrenia. |
| SCZ Keywords | schizophrenia |
| 4 | Psychiatr. Genet. 2013 Aug 23: 179-80 |
| PMID | 23528614 |
| Title | An association analysis of the cardiomyopathy-associated 5 (CMYA5) gene with schizophrenia in a Japanese population. |
| Abstract | -1 |
| SCZ Keywords | schizophrenia |
| 5 | World J. Biol. Psychiatry 2014 Sep 15: 553-60 |
| PMID | 24988482 |
| Title | The CMYA5 gene confers risk for both schizophrenia and major depressive disorder in the Han Chinese population. |
| Abstract | A recent genome-wide association study (GWAS) of the European population implicated theCMYA5gene inschizophrenia. Previous functional studies showed that theCMYA5protein can interact with DTNBP1 and PKA, providing further support for a role ofCMYA5in the pathogenesis ofschizophrenia. However, this association requires additional validation in independent populations. To validate the association betweenCMYA5andschizophreniaand major depressive disorder, we genotyped 16 SNPs within theCMYA5gene and performed case-control studies in 1330schizophreniapatients, 1045 patients with major depressive disorder, and 1235 normal controls. All patients were of Han Chinese origin. rs6883197 and rs259127 were significantly associated withschizophrenia, and rs12514461, rs259127, and rs7343 were associated with major depressive disorder. Additionally, one risk haplotype of rs16877109-rs3828611 (G-G) was associated with bothschizophrenia(P = 0.0000784, after correction) and major depressive disorder (P = 0.00230, after correction). Our findings support the idea that specific alleles and haplotype in theCMYA5confer genetic risk for bothschizophreniaand major depressive disorder in the Han Chinese population. |
| SCZ Keywords | schizophrenia |
| 6 | Asian J Psychiatr 2014 Feb 7: 95-6 |
| PMID | 24524722 |
| Title | The cardiomyopathy-associated 5 (CMYA5) gene and risk of schizophrenia: meta-analysis of rs3828611 and rs4704591 in East Asian populations. |
| Abstract | -1 |
| SCZ Keywords | schizophrenia |
| 7 | Early Interv Psychiatry 2015 Sep -1: -1 |
| PMID | 26403435 |
| Title | Association between CMYA5 gene polymorphisms and risk of schizophrenia in Uygur population and a meta-analysis. |
| Abstract | Previous evidence has found that some single nucleotide polymorphisms (SNPs) in cardiomyopathy-associated 5 gene (CMYA5) were associated withschizophreniain the Caucasian and Chinese Han populations. In this study, we aimed to investigate the relationship betweenCMYA5gene polymorphisms andschizophreniain Chinese Uygur population and perform a meta-analysis to synthetically analyse the association ofCMYA5gene polymorphisms withschizophreniain Asian populations. We retrospectively analysed 985schizophreniacases and 1123 healthy controls in Chinese Uygur population. Four SNPs (rs259127, rs3828611, rs4704591 and rs6883197) ofCMYA5were genotyped using TaqMan SNP genotyping assay. Meta-analysis was conducted across Asian studies by Review Manager 5.2. Results showed no significant difference in either allelic or genotypic frequency in four SNPs of theCMYA5gene between cases and controls (P?>?0.05). However, the age of onset and the PANSS positive-factor subscale score were significantly lower inschizophreniapatients with the A/A genotype of rs6883197 than those with A/G and G/G genotypes (P?schizophrenia(P?=?0.03, OR?=?0.92, 95% CI: 0.91-0.99). Our results support the association betweenCMYA5?rs6883197 andschizophreniain Chinese Uygur population. Meta-analysis demonstrated that rs3828611 was significantly associated withschizophreniain Asian population. Genetic heterogeneity among populations may be the main reason of results conflict between studies. In conclusion, association betweenCMYA5gene polymorphisms andschizophreniawas confirmed in Asian population. |
| SCZ Keywords | schizophrenia |