| 1 | 哼。摩尔。基因。2006年3月15日：743-9 |
|---|---|
| PMID | 16434481 |
| Title | 躁郁症和精神分裂症中的DNA拷贝数分析揭示了与谷氨酸信号传导有关的基因的畸变。 |
| Abstract | Using bacterial artificial chromosome (BAC) array comparative genome hybridization (aCGH) at approximately 1.4 Mbp resolution, we screened post-mortem brain DNA from bipolar disorder cases,schizophreniacases and control individuals (n=35 each) for DNA copy-number aberrations. DNA copy number is a largely unexplored source of human genetic variation that may contribute risk for complex disease. We report aberrations at four loci which were seen in affected but not control individuals, and which were verified by quantitative real-time PCR. These aberrant loci contained the genes encoding EFNA5, GLUR7,CACNG2和akap5;所有在神经元功能中具有已知或假定作用的脑表达蛋白质，其中三个（glur7，CACNG2和AKAP5）参与谷氨酸信号传导。还使用efna5，glur7，CACNG2and AKAP5, and samples with aberrant copy number were found at three of the four loci (GLUR7,CACNG2and AKAP5). Further scrutiny of these regions may reveal insights into the etiology and genetic risk factors for these complex psychiatric disorders. |
| SCZ Keywords | schizophrenia, schizophrenic |
| 2 | Schizophr. Res. 2007 Nov 96: 93-9 |
| PMID | 17826036 |
| Title | Gene copy number variation in schizophrenia. |
| Abstract | The possibility that gene copy number variations play a role in the development of complex disorders is a topic of considerable interest. Recent reports have highlighted the large number of such variations that exist and that their occurrence varies considerably between populations. A recent report has suggested that copy number variations in four genes (GRIK3, EFNA5, AKAP5 andCACNG2) may be associated withschizophrenia。该研究领域的一个问题是验证高通量方法，例如比较基因组杂交，因为后者不可避免地会产生误报。我们已经使用了两种对比方法来确定上面报告的发现的有效性，如果True将对的发病机理产生重大影响schizophrenia。Samples from a UK population were tested using a method of allele quantification by DNA pooling and samples from Belgium and northern Sweden were tested using Multiplex Amplicon Quantification (MAQ). Both methods were used to test DNA samples used in the original investigation. No copy number variations were found for any of the genes in any samples. Our data suggests that more reliable methods need to be used to validate the existence of CNVs before full scale association studies are carried out. |
| SCZ Keywords | schizophrenia, schizophrenic |
| 3 | 欧元。J. Hum。基因。2008年6月16日：750-8 |
| PMID | 18322454 |
| Title | 在患有精神分裂症，癫痫和听力障碍的家庭中纯合性映射。 |
| Abstract | Homozygosity mapping within consanguineous families is a powerful method of localising genes for autosomal recessive disease. We investigated a family from Punjab, Pakistan, a region where consanguineous marriages are frequent. The parents have no detectable clinical disorders. However, five out of six children present withschizophrenia，单独或合并癫痫或听力障碍。第一个表亲的几个后代中这种异常的表型强烈暗示着一种罕见的孟德尔隐性疾病。最初使用低密度微卫星最初使用两次全基因组扫描，随后使用高密度的SNP标记来绘制受影响个体的纯合区域。随后对这些基因座中的候选基因进行筛选以进行突变。研究了纯合性分析和近交系数，以估计血污。将两个推定的疾病基因座映射到22q12.3-Q13.3和2P24.3。2p24染色体上的候选基因座与耳聋基因座DFNB47重叠，与常染色体隐性听力障碍有关schizophrenia在我们的第二个候选基因座中，在22q13.1的4-5厘米区域中聚类。三个候选基因的序列分析（KCNF1（2p）； ATF4，CACNG2(22q)) did not reveal any exonic mutations. Inbreeding coefficients calculated for each family member support a very high degree of ancestral and recent inbreeding. The screening of other candidate genes located within these newly identified disease intervals on Chr2p24.3 and 22q12.3-q13.3 may lead to the discovery of causative variants, and consequent disrupted molecular pathways associated with this rare phenotype. |
| SCZ Keywords | schizophrenia, schizophrenic |
| 4 | BMC Bioinformatics 2008 -1 9 Suppl 12: S23 |
| PMID | 19091023 |
| Title | A protein interaction based model for schizophrenia study. |
| Abstract | schizophreniais a complex disease with multiple factors contributing to its pathogenesis. In addition to environmental factors, genetic factors may also increase susceptibility. In other words,schizophreniais a highly heritable disease. Some candidate genes have been deduced on the basis of their known function with others found on the basis of chromosomal location. Individuals with multiple candidate genes may have increased risk. However it is not clear what kind of gene combinations may produce the disease phenotype. Their collective effect remains to be studied. Most pathways except metabolic pathways are rich in protein-protein interactions (PPIs). Thus, the PPI network contains pathway information, even though the upstream-downstream relation of PPI is yet to be explored. Here we have constructed a PPI sub-network by extracting the nearest neighbour of the 36 reported candidate genes described in the literature. Although these candidate genes were discovered by different approaches, most of the proteins formed a cluster. Two major protein interaction modules were identified on the basis of the pairwise distance among the proteins in this sub-network. The large and small clusters might play roles in synaptic transmission and signal transduction, respectively, based on gene ontology annotation. The protein interactions in the synaptic transmission cluster were used to explain the interaction between the NRG1 andCACNG2genes, which was found by both linkage and association studies. This working hypothesis is supported by the co-expression analysis based on public microarray gene expression. On the basis of the protein interaction network, it appears that the NRG1-triggered NMDAR protein internalization and theCACNG2介导的AMPA受体募集可以在谷氨酸能信号传导过程中一起起作用。由于NMDA和AMPA受体都是钙通道，因此该过程可能调节Ca2+的流入。减少阳离子的涌入可能是疾病机制之一schizophrenia。This PPI network analysis approach combined with the support from co-expression analysis may provide an efficient way to propose pathogenetic mechanisms for various highly heritable diseases. |
| SCZ Keywords | schizophrenia, schizophrenic |
| 5 | Biol. Psychiatry 2008 Nov 64: 789-96 |
| PMID | 18571626 |
| Title | MYH9 RASD2, CACNG2基因在染色体22 12associated with the subgroup of schizophrenia with non-deficit in sustained attention and executive function. |
| Abstract | 在先前的联系研究中schizophreniathat included Taiwanese samples, the marker D22S278 (22q12.3) was significantly linked toschizophrenia(p = .001). We conducted fine mapping of the implicated genomic region, with 47 validated single nucleotide polymorphism (SNP) markers around 1 Mb of D22S278, in a Taiwanese sample of 218 pedigrees with at least 2 siblings affected withschizophrenia。We examined the association of these SNPs and their haplotypes withschizophrenia并通过未依赖和降解的连续绩效测试（CPTS）评估的持续注意力中存在和不存在缺陷来定义的亚组。我们还检查了威斯康星卡排序测试（WCST）中所达到的类别中的缺陷定义的子组。 Three of five candidate vulnerability genes (RASD2, APOL5, MYH9, EIF3S7, andCACNG2），与schizophrenia，与schizophrenicpatients who did not have deficits in sustained attention on the undegraded CPT (RASD2 gene SNP rs736212; p = .0008 with single locus analysis) and the degraded CPT (MYH9 gene haplotype 1-1-1-1 of SNP rs3752463 - rs1557540 - rs713839 - rs739097; p = .0059 with haplotype analysis). We also found a significant association for patients who showed no deficits in executive function as measured by categories achieved in the WCST (CACNG2gene haplotype 2-1-1-1 of SNP rs2267360 - rs140526 - rs1883987 - rs916269; p = .0163 with haplotype analysis). The genes RASD2, MYH9, andCACNG2might be vulnerability genes for neuropsychologically defined subgroups ofschizophrenicpatients. |
| SCZ Keywords | schizophrenia, schizophrenic |
| 6 | Biol. Psychiatry 2008 Nov 64: 789-96 |
| PMID | 18571626 |
| Title | MYH9 RASD2, CACNG2基因在染色体22 12associated with the subgroup of schizophrenia with non-deficit in sustained attention and executive function. |
| Abstract | 在先前的联系研究中schizophreniathat included Taiwanese samples, the marker D22S278 (22q12.3) was significantly linked toschizophrenia(p = .001). We conducted fine mapping of the implicated genomic region, with 47 validated single nucleotide polymorphism (SNP) markers around 1 Mb of D22S278, in a Taiwanese sample of 218 pedigrees with at least 2 siblings affected withschizophrenia。We examined the association of these SNPs and their haplotypes withschizophrenia并通过未依赖和降解的连续绩效测试（CPTS）评估的持续注意力中存在和不存在缺陷来定义的亚组。我们还检查了威斯康星卡排序测试（WCST）中所达到的类别中的缺陷定义的子组。 Three of five candidate vulnerability genes (RASD2, APOL5, MYH9, EIF3S7, andCACNG2），与schizophrenia，与schizophrenicpatients who did not have deficits in sustained attention on the undegraded CPT (RASD2 gene SNP rs736212; p = .0008 with single locus analysis) and the degraded CPT (MYH9 gene haplotype 1-1-1-1 of SNP rs3752463 - rs1557540 - rs713839 - rs739097; p = .0059 with haplotype analysis). We also found a significant association for patients who showed no deficits in executive function as measured by categories achieved in the WCST (CACNG2gene haplotype 2-1-1-1 of SNP rs2267360 - rs140526 - rs1883987 - rs916269; p = .0163 with haplotype analysis). The genes RASD2, MYH9, andCACNG2might be vulnerability genes for neuropsychologically defined subgroups ofschizophrenicpatients. |
| SCZ Keywords | schizophrenia, schizophrenic |
| 7 | Pharmacogenet。基因组学2008年5月18日：403-12 |
| PMID | 18408563 |
| Title | Stargazin involvement with bipolar disorder and response to lithium treatment. |
| Abstract | 多个报告都暗示了两者的染色体区域22q13.1schizophrenia和躁郁症。钙通道γ-2亚基基因（CACNG2, Stargazin) located on 22q13.1 was recently reported to be associated withschizophrenia。We aimed to examine the expression levels of Stargazin in post-mortem brain samples of patients withschizophrenia双相情感障碍患者(桶)和健康controls, test for genetic association between Stargazin and these disorders and test for genetic association between Stargazin and response to lithium treatment. 通过定量逆转录PCR在背侧外侧前额叶皮层中的RNA样品中进行表达分析schizophrenia，具有BPD和对照的患者（n = 35）。在两个同类的DNA样品“ Aberdeen”和“ Cagliari”（分别n = 410，170）中，将包含Stargazin的十二个单核苷酸多态性基因分型。患者接受锂治疗，并根据其反应分组。 在BPD患者中观察到Stargazin的1.6倍过表达（P = 0.000036）。在患者中没有观察到的表达差异schizophrenia。None of the 12 genotyped single nucleotide polymorphisms were associated with BPD, but three of them were significantly associated with lithium response: one in both cohorts (rs2284017) and two (rs2284018, rs5750285) each in a different cohort. Haplotype analysis revealed significant 'response-protective' and 'response-inhibitive' haplotypes in both cohorts. 我们的发现表明，Stargazin失调可能与BPD的病理生理有关，但与schizophrenia，这种星状蛋白多态性可能在对锂治疗的反应中起作用。 |
| SCZ Keywords | schizophrenia, schizophrenic |
| 8 | PLOS ONE 2013 -1 8：E60099 |
| PMID | 23555897 |
| Title | The DAO gene is associated with schizophrenia and interacts with other genes in the Taiwan Han Chinese population. |
| Abstract | schizophreniais a highly heritable disease with a polygenic mode of inheritance. Many studies have contributed to our understanding of the genetic underpinnings ofschizophrenia, but little is known about how interactions among genes affect the risk ofschizophrenia。This study aimed to assess the associations and interactions among genes that confer vulnerability toschizophreniaand to examine the moderating effect of neuropsychological impairment. 我们分析了1,512个受试者样本中10个候选基因的99个SNP。基于置换的单位核心，多级别关联测试和基于基因的多因素降低程序用于检查遗传关联和相互作用和相互作用schizophrenia。 We found that no single SNP was significantly associated withschizophrenia。然而，风险单倍型，即DAO基因的SNP三重态RSDAO7-RSDAO8-RSDAO13的A-T-C与schizophrenia。相互作用分析确定了多个基因之间和基因之间的相互作用。基因之间的相互作用，包括dao*disc1，dao*nrg1和dao*rasd2以及用于的内部相互作用CACNG2were found amongschizophrenia患有严重注意力缺陷的受试者，表明神经心理学功能受损的影响。不管神经心理功能障碍分层如何，都一致确定其他相互作用，例如DAO的内部相互作用以及DAO和PTK2B之间的基因之间的相互作用。重要的是，除了基因的相互作用CACNG2, all of the identified risk haplotypes and interactions involved SNPs from DAO. These results suggest that DAO, which is involved in the N-methyl-d-aspartate receptor regulation, signaling and glutamate metabolism, is the master gene of the genetic associations and interactions underlyingschizophrenia。Besides, the interaction between DAO and RASD2 has provided an insight in integrating the glutamate and dopamine hypotheses ofschizophrenia。 |
| SCZ Keywords | schizophrenia, schizophrenic |
| 9 | 心理生理学2014年12月51日：1272-84 |
| PMID | 25387707 |
| Title | 反accade眼跟踪错误率的遗传力和分子遗传基础：全基因组关联研究。 |
| Abstract | Antisaccade deficits reflect abnormalities in executive function linked to various disorders includingschizophrenia, externalizing psychopathology, and neurological conditions. We examined the genetic bases of antisaccade error in a sample of community-based twins and parents (N?=?4,469). Biometric models showed that about half of the variance in the antisaccade response was due to genetic factors and half due to nonshared environmental factors. Molecular genetic analyses supported these results, showing that the heritability accounted for by common molecular genetic variants approximated biometric estimates. Genome-wide analyses revealed several SNPs as well as two genes-B3GNT7 and NCL-on Chromosome 2 associated with antisaccade error. SNPs and genes hypothesized to be associated with antisaccade error based on prior work, although generating some suggestive findings for MIR137, GRM8, andCACNG2, could not be confirmed. |
| SCZ Keywords | schizophrenia, schizophrenic |