| 1 | Hum. Mol. Genet. 2011 Oct 20: 4076-81 |
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| PMID | 21791550 |
| Title | Common variants at VRK2 and TCF4 conferring risk of schizophrenia. |
| Abstract | Common sequence variants have recently joined rare structural polymorphisms as genetic factors with strong evidence for association withschizophrenia. Here we extend our previous genome-wide association study and meta-analysis (totalling 7 946 cases and 19 036 controls) by examining an expanded set of variants using an enlarged follow-up sample (up to 10 260 cases and 23 500 controls). In addition to previously reported alleles in the major histocompatibility complex region, near neurogranin (NRGN) and in an intron of transcription factor 4 (TCF4), we find two novel variants showing genome-wide significant association: rs2312147[C], upstream of vaccinia-related kinase 2 (VRK2) [odds ratio (OR) = 1.09, P = 1.9 � 10(-9)] and rs4309482[A], between coiled-coiled domain containing 68 (CCDC68) and TCF4, about 400 kb from the previously described risk allele, but not accounted for by its association (OR = 1.09, P = 7.8 � 10(-9)). |
| SCZ Keywords | schizophrenia |
| 2 | Neurochem. Int. 2013 May 62: 870-2 |
| PMID | 23439384 |
| Title | 表达和微分响应se to haloperidol treatment of Cyclon/CCDC86 mRNA in schizophrenia patients. |
| Abstract | A gene known as Cyclon (cytokine-induced protein with coiled-coil domain) or CCDC86 (coiled-coil domain-containing protein 86) is known for its expression in leukocytes in mice, where it regulates the immune response. We investigated whether Cyclon/CCDC68is expressed in leukocytes ofschizophreniapatients and whether it might be used as a biological marker for the disease endophenotype segregation. We examined the level of mRNA of Cyclon/CCDC68in white blood cells obtained fromschizophreniapatients in relapse and remission as well as in healthy controls. The mRNA of Cyclon/CCDC68was expressed by white blood cells of bothschizophreniapatients and healthy controls. There was a dichotomous change in the levels of Cyclon/CCDC68of relapsed patients before and after treatment. High Cyclon/CCDC68levels were associated with a recent disease and presence of psychotic symptoms, while low levels were associated with a long duration of the disease and an absence of psychotic symptoms. These data indicate that Cyclon/CCDC68levels correlate with the clinical presentation of relapsedschizophrenia. Cyclon/CCDC68might be involved in the immune system disturbances observed inschizophrenia. |
| SCZ Keywords | schizophrenia |
| 3 | Behav Brain Funct 2013 -1 9: 40 |
| PMID | 24160291 |
| Title | The impact of the genome-wide supported variant in the cyclin M2 gene on gray matter morphology in schizophrenia. |
| Abstract | Genome-wide significant associations ofschizophreniawith eight SNPs in the CNNM2, MIR137, PCGEM1, TRIM26, CSMD1, MMP16, NT5C2 andCCDC68genes have been identified in a recent mega-analysis of genome-wide association studies. To date, the role of these SNPs on gray matter (GM) volumes remains unclear. After performing quality control for minor-allele frequency?>?5% using a JPT HapMap sample and our sample, a genotyping call rate?>?95% and Hardy-Weinberg equilibrium testing (p?>?0.01), five of eight SNPs were eligible for analysis. We used a comprehensive voxel-based morphometry (VBM) technique to investigate the effects of these five SNPs on GM volumes between major-allele homozygotes and minor-allele carriers in Japanese patients withschizophrenia(n?=?173) and healthy subjects (n?=?449). The rs7914558 risk variant at CNNM2 was associated with voxel-based GM volumes in the bilateral inferior frontal gyri (right T?=?4.96, p?=?0.0088, left T?=?4.66, p?=?0.031). These peak voxels, which were affected by the variant, existed in the orbital region of the inferior frontal gyri. Individuals with the risk G/G genotype of rs7914558 had smaller GM volumes in the bilateral inferior frontal gyri than carriers of the non-risk A-allele. Although several effects of the genotype and the genotype-diagnosis interaction of other SNPs on GM volumes were observed in the exploratory VBM analyses, these effects did not remain after the FWE-correction for multiple tests (p?>?0.05). Our findings suggest that the genetic variant in the CNNM2 gene could be implicated in the pathogenesis ofschizophreniathrough the GM volumetric vulnerability of the orbital regions in the inferior frontal gyri. |
| SCZ Keywords | schizophrenia |