| 1 | 精神分裂。res。2008 Apr 101: 9-16 |
|---|---|
| PMID | 18329248 |
| Title | 代谢型谷氨酸受体MGLUR7（GRM7）基因的多态性与精神分裂症有关。 |
| 抽象的 | Glutamate dysfunction has been implicated in the pathophysiology of精神分裂症。The metabotropic glutamate receptors (mGluRs) are G-protein-coupled receptors.GRM7, the gene that encodes mGluR7, is expressed in many regions of the human central nervous system. TheGRM7基因位于人类3P26上精神分裂症。 We screened for mutations in all exons, exon/intron junctions, and promoter regions of theGRM7gene in Japanese patients with精神分裂症and evaluated associations between the detected polymorphisms and精神分裂症。我们研究了与精神分裂症上的表达GRM7by dual-luciferase assay in transfected cells. Twenty-five polymorphisms/mutations were detected inGRM7。Case-control analysis revealed a potential association of a synonymous polymorphism (371T/C, rs3749380) in exon 1 with精神分裂症在我们对2293例日本患者的病例对照研究中精神分裂症和2382个日本控制受试者（等位基因P = 0.009）。双酸酶酶测定法显示外显子1抑制转录活性，其中包含该多态性和T和C等位基因之间启动子活性的统计学显着差异。 我们的结果支持了GRM7gene polymorphism with genetic susceptibility to精神分裂症。 |
| SCZ Keywords | 精神分裂症，精神分裂症 |
| 2 | Psychiatry Res 2009 May 167: 88-96 |
| PMID | 19351574 |
| Title | III组代谢型谷氨酸受体基因，GRM4和GRM7与精神分裂症的结合研究。 |
| 抽象的 | 基于以下假设：谷氨酸能功能障碍参与精神分裂症，我们一直在进行有关谷氨酸受体基因与精神分裂症。Here we report association studies of精神分裂症III组代谢型谷氨酸受体基因的多态性，GRM4和GRM7。我们选择了分布在GRM4（> 111 Kb）和GRM7(>900 kb), respectively. We scanned significant associations with精神分裂症using 100 case-control pairs of Japanese. We identified two neighboring SNPs (rs12491620 and rs1450099) inGRM7showing highly significant haplotype association with精神分裂症surviving the FDR correction. We then performed additional typing of the two SNPs using the expanded sample set (404 cases and 420 controls) and confirmed the significant association with the disease. We conclude that at least one susceptibility locus for精神分裂症位于或附近GRM7，而GRM4不太可能成为主要的敏感基因精神分裂症in the Japanese population. |
| SCZ Keywords | 精神分裂症，精神分裂症 |
| 3 | J Psychiatry Neurosci 2009 11月34日：450-8 |
| PMID | 19949721 |
| Title | Expression profiles of schizophrenia susceptibility genes during human prefrontal cortical development. |
| 抽象的 | Disruption in normal development of the human prefrontal cortex (PFC) may lead to cognitive dysfunction that manifests in individuals with精神分裂症。我们试图确定与年龄相关的基因精神分裂症。 我们使用Affymetrix HG-U133加上2.0微阵列（54 675转录本），为人类的PFC产生了全基因组表达曲线。根据显着性的标准（错误的发现率[FDR]调整后的Q <0.001和R（2）> 0.6），我们确定了与PFC年龄相关的基因。然后，我们使用基因本体论和遗传关联数据库（GAD）对年龄相关基因进行了功能注释分析。 We found robust age-dependent changes in gene expression in the PFCs of humans (2281 transcripts). The GAD analysis revealed that精神分裂症是一个代表性过多的疾病类别，其中包括42个敏感性基因（p <0.001，倍数富集= 1.66，FDR = 1.5％）。在42个基因中，谷氨酸受体基因（gria1，grik1，grik2，grin2d，grip1，grm5，GRM7和SLC1A6）在整个年龄段始终下调。我们通过定量聚合酶链反应实验证实了微阵列基因表达的变化。 尽管许多基因进行健壮的变化expression during the PFC development, some of the changes may be confounded by known and unknown factors that are intrinsic to the postmortem brain studies. Multiple精神分裂症易感基因在人类PFC中经历年龄依赖性的表达变化，并且在发育的关键时期中这些基因的任何破坏都可能使个人倾向于精神分裂症。 |
| SCZ Keywords | 精神分裂症，精神分裂症 |
| 4 | Zhongguo Yi Xue Ke Xue Yuan Xue Bao 2009 Dec 31: 664-8 |
| PMID | 20078931 |
| Title | [Association between copy number variants within metabotropic glutamate receptors 7 gene and schizophrenia]. |
| 抽象的 | 为了研究基因组拷贝数变体（CNV）是否在代谢性谷氨酸受体7（GRM 7）基因中与精神分裂症。 We examined CNVs in conserved region ofGRM7using real time quantitative PCR among 180 Chinese精神分裂症cases and 33 normal controls. Products of real time quantitative PCR were sequenced bilaterally. Real time quantitative PCR found that a biallelic deletion existed at the 200 bps up-stream of exon 2 in a精神分裂症patient and a monoallelic deletion existed at this site in another 13精神分裂症患者和对照对象。然而，测序结果表明，在实时PCR的5bp上流中，在5bp上流的3'末端替换了C为G（g）（GRM7-SV-1R). In addition, samples with this variant were exactly those having biallelic or monoallelic deletions, indicating that the results of the real time PCR were caused by the substitution variant at the 3' end of the primer rather than a bona fide genome deletion. Real-time quantitative PCR combined with sequencing can avoid false positive deletions and therefore is effective in detecting CNVs. According to our results, CNVs in GRM 7 gene is not associated with精神分裂症在汉族人口中。但是，某些潜在的罕见CNV可能仍然存在这种关系，需要进一步研究。 |
| SCZ Keywords | 精神分裂症，精神分裂症 |
| 5 | Int. J. Neuropsychopharmacol. 2009 Oct 12: 1283-9 |
| PMID | 19638256 |
| Title | A family-based association study of DNA sequence variants in GRM7 with schizophrenia in an Indonesian population. |
| 抽象的 | We previously reported genome-wide significant linkage to chromosome 3p in a sib-pair family sample from Indonesia. A promising candidate gene within the linked region is the metabotropic glutamate receptor subtype 7 (GRM7), involved in glutamatergic neurotransmission. We genotyped 18 single nucleotide polymorphisms inGRM7在124个印尼同胞家族的样本中，他们提供了重大的联系发现。传播不平衡分析显示，在内含子1中名义上显着的RS17031835的传播失真GRM7（p = 0.004，在校正多次测试之前），以及含有RS17031835的单倍型。没有发现其他单一标记与精神分裂症in our sample. The results from our study provide support for the idea that glutamatergic neurotransmission and specifically theGRM7gene might be relevant to the development of精神分裂症。Further studies supporting this finding are warranted. |
| SCZ Keywords | 精神分裂症，精神分裂症 |
| 6 | J Psychiatr Res 2010 10月44日：971-8 |
| PMID | 20398908 |
| Title | 精神疾病中神经元途径基因基因的综合拷贝数变体（CNV）分析确定了患者内部的罕见变异。 |
| 抽象的 | 在研究对复杂疾病的遗传敏感性时，拷贝数变化（CNV）已成为人类基因组变异性的重要来源。由于最近的研究发现了CNV在精神疾病中的潜在参与的证据，我们研究了结构性基因组变体的剂量效应是候选基因方法中不同精神疾病的可能易感因素。 After selection of 68 psychiatric disorders' candidate genes overlapping with CNVs, MLPA assays were designed to determine changes in copy number of these genes. The studied sample consisted of 724 patients with psychiatric disorders (accounting for anxiety disorders, mood disorders, eating disorders and精神分裂症）和341个对照个体。 在筛选的68个基因中的30个中检测到CNV，表明相当比例的神经元途径基因含有CNV。与对照个体相比，在测试不同精神疾病中罕见结构基因组变异的总负担时，收益和损失的总量没有统计学上的显着差异。但是，在30个变化中，只有14例仅在精神疾病患者中发现，但在对照组中没有发现。这些基因包括GRM7, previously associated to major depression disorder and bipolar disorder, SLC6A13, in anxiety disorders, and S100B, SSTR5 and COMT in精神分裂症。 Although we have not been able to found a clear association between the studied CNVs and psychiatric disorders, the rare variants found only within the patients could account for a step further towards understanding the pathophysiology of psychiatric disorders. |
| SCZ Keywords | 精神分裂症，精神分裂症 |
| 7 | ACS Chem Neurosci 2014 Dec 5: 1221-37 |
| PMID | 25225882 |
| Title | Identification of positive allosteric modulators VU0155094 (ML397) and VU0422288 (ML396) reveals new insights into the biology of metabotropic glutamate receptor 7. |
| 抽象的 | Metabotropic glutamate receptor 7 (mGlu7) is a member of the group III mGlu receptors (mGlus), encompassed by mGlu4, mGlu6, mGlu7, and mGlu8. mGlu7 is highly expressed in the presynaptic active zones of both excitatory and inhibitory synapses, and activation of the receptor regulates the release of both glutamate and GABA. mGlu7 is thought to be a relevant therapeutic target for a number of neurological and psychiatric disorders, and polymorphisms in theGRM7基因与自闭症，抑郁症，多动症和精神分裂症。在这里，我们报告了两个新的泛组III MGLU阳性变构调节剂VU0155094和VU0422288，它们在各组III MGLUS上显示出差异活动。此外，在存在明显的正常激动剂的存在下评估时，两种化合物均显示出探针依赖性。通过将这些非选择性化合物的研究与仅表达MGLU7的海马中的突触配对，我们在天然组织环境中已经验证了这些化合物的活性。这些研究提供了概念验证证据，表明MGLU7活性可以通过阳性的变构调节来调节，这为未来的疗法开发铺平了道路。 |
| SCZ Keywords | 精神分裂症，精神分裂症 |
| 8 | 精神分裂。res。2015年3月162日：112-7 |
| PMID | 25579050 |
| Title | Evidence for schizophrenia susceptibility alleles in the Indian population: An association of neurodevelopmental genes in case-control and familial samples. |
| 抽象的 | 精神分裂症是一种严重的精神疾病，全球终生患病率约为1％。使用840的Illumina 1536 SNP的定制面板进行了基因分型研究精神分裂症cases and 876 controls (351 patients and 385 controls from North India; and 436 patients, 401 controls and 143 familial samples with 53 probands containing 37 complete and 16 incomplete trios from South India). Meta-analysis of this population of Indo-European and Dravidian ancestry identified three strongly associated variants with精神分裂症: STT3A (rs548181, p=1.47�10(-5)), NRG1 (rs17603876, p=8.66�10(-5)) andGRM7(rs3864075, p=4.06�10(-3)). Finally, a meta-analysis was conducted comparing our data with data from the精神分裂症支持RS548181的精神病基因组协会研究联盟（PGC-SCZ）（p = 1.39.10（-7））。此外，对南印度人口的家族样本中零星病例对照关联和传播不平衡测试的结合分析确定了三个关联：rs1062613（p = 3.12.10（-3）），这是HTR3A的功能启动子变体；RS6710782（p = 3.50.10（-3）），ERBB4的内含子变体；RS891903（p = 1.05.10（-2）），EBF1的内含子变体。结果支持在较早发表的工作中观察到的风险变异，并提出神经发育基因在精神分裂症pathogenesis. |
| SCZ Keywords | 精神分裂症，精神分裂症 |
| 9 | Neurosci. Lett. 2015 Sep 604: 109-12 |
| PMID | 26254163 |
| Title | Association study of GRM7 polymorphisms and schizophrenia in the Chinese Han population. |
| 抽象的 | 精神分裂症是一种严重而复杂的精神障碍，具有很高的遗传力。有证据表明代谢型谷氨酸受体（GRM）与精神分裂症。GRM7尤其是许多精神疾病的候选基因已被确定为候选基因精神分裂症。在这项研究中，我们研究了单核苷酸多态性（SNP）是否在GRM7were associated with精神分裂症。Four SNPs (rs9814881, rs13353402, rs9870680 and rs1531939) were genotyped in 1034精神分裂症patients and 1034 healthy controls of Chinese Han origin. The results showed that the two SNPs rs13353402 and rs1531939 demonstrated significant difference between精神分裂症patients and control subjects in allele frequencies (rs13353402: P value=0.0307, rs1531939: P value=0.0328, respectively). Nevertheless, there was no significant discrepancies in genotype distribution. In summary, our results indicate that theGRM7SNPs rs13353402 and rs1531939 might be associated with精神分裂症in Chinese Han population. |
| SCZ Keywords | 精神分裂症，精神分裂症 |
| 10 | Neurosci. Lett. 2015 Sep 604: 109-12 |
| PMID | 26254163 |
| Title | Association study of GRM7 polymorphisms and schizophrenia in the Chinese Han population. |
| 抽象的 | 精神分裂症是一种严重而复杂的精神障碍，具有很高的遗传力。有证据表明代谢型谷氨酸受体（GRM）与精神分裂症。GRM7尤其是许多精神疾病的候选基因已被确定为候选基因精神分裂症。在这项研究中，我们研究了单核苷酸多态性（SNP）是否在GRM7were associated with精神分裂症。Four SNPs (rs9814881, rs13353402, rs9870680 and rs1531939) were genotyped in 1034精神分裂症patients and 1034 healthy controls of Chinese Han origin. The results showed that the two SNPs rs13353402 and rs1531939 demonstrated significant difference between精神分裂症patients and control subjects in allele frequencies (rs13353402: P value=0.0307, rs1531939: P value=0.0328, respectively). Nevertheless, there was no significant discrepancies in genotype distribution. In summary, our results indicate that theGRM7SNPs rs13353402 and rs1531939 might be associated with精神分裂症in Chinese Han population. |
| SCZ Keywords | 精神分裂症，精神分裂症 |
| 11 | Transl Psychiatry 2016 -1 6: e739 |
| PMID | 26905411 |
| Title | Antipsychotic pharmacogenomics in first episode psychosis: a role for glutamate genes. |
| 抽象的 | 遗传因素可能是对抗精神病药物治疗的有益和不利反应的基础。在疾病的早期，这些关系可能更容易鉴定出抗精神病药的疾病。我们检查了86个第一集患者（精神分裂症，在为期6周的抗精神病药治疗反应的6周药物基因组研究中，精神病性躁郁症和具有精神病性特征的主要抑郁症具有精神病性特征）。通过短暂的精神病评级量表总分的变化来衡量响应。利培酮单一疗法是主要的抗精神病药。在（1）检查已知与谷氨酸信号相关的基因中的候选单核苷酸多态性（SNP）完成（1），（2）进行探索性全基因组的关联研究，以识别未来潜在的新型关联，调查。两个SNPGRM7(rs2069062 and rs2014195) were significantly associated with antipsychotic response in candidate gene analysis, as were two SNPs in the human glutamate receptor delta 2 (GRID2) gene (rs9307122 and rs1875705) in genome-wide association analysis. Further examination of these findings with those from a separate risperidone-treated study sample demonstrated that top SNPs in both studies were overrepresented in glutamate genes and that there were similarities in neurodevelopmental gene categories associated with drug response from both study samples. These associations indicate a role for gene variants related to glutamate signaling and antipsychotic response with more broad association patterns indicating the potential importance of genes involved in neuronal development. |
| SCZ Keywords | 精神分裂症，精神分裂症 |
| 12 | Pharmacogenomics J. 2016 Feb -1: -1 |
| PMID | 26856250 |
| Title | GRM7基因，对利培酮和精神分裂症的早期反应：全基因组关联研究和确认性药物遗传学分析。 |
| 抽象的 | 在主题中固有的困难或与持续的方法论上的困难有关，例如，诸如丢失数据的插入液中的较高的预期停用率以及随之而来的扭曲。因为早期对抗精神病药的反应代表了随后的治疗反应的足够可靠指数精神分裂症，我们进行了一项现实世界中的全基因组关联研究（GWAS），目的是在86例患者中识别2周后2周后对利培酮反应的遗传预测指标精神分裂症。仅限于GWAS的关联，还设计了9个月内相对于利培酮反应的确认性分析，涉及97名患者（仅欧洲）参加了CATIE（干预效果的临床抗精神病药试验）遗传遗传学疗法。GWA揭示了单核苷酸多态性RS2133450的显着关联（错误发现率0.02）GRM7gene with Emsley's positive domain derived from the positive and negative syndrome scale (PANSS). Patients with the rs2133450 CC genotype presented poorer improvement in the positive domain over 2 weeks, with odds ratios of 12.68 (95% CI, 3.51-45.76) and 6.95 (95% confidence interval (CI), 2.37-20.37) compared with patients with the AA and AC genotypes, respectively. Compared with A homozygotes, rs2133450 C homozygotes enroled in the CATIE-derived confirmatory analysis showed less improvement in Emsley's positive, excited and depression domains, positive and general PANSS subtypes, and total PANSS after 9 months of treatment with risperidone. The original GWAS and the CATIE-derived confirmatory analysis support the proposal that the rs2133450 may have translational relevance as a predictor of response to risperidone.The Pharmacogenomics Journal advance online publication, 9 February 2016; doi:10.1038/tpj.2015.90. |
| SCZ Keywords | 精神分裂症，精神分裂症 |
| 13 | EUR Neuropsychopharmacol 2016 1月26日：136-46 |
| PMID | 26655190 |
| Title | Significant association of GRM7 and GRM8 genes with schizophrenia and major depressive disorder in the Han Chinese population. |
| 抽象的 | Metabotropic glutamate receptor type 7 (GRM7) and type 8 (GRM8) are involved in the neurotransmission of glutamate which is supposed to play an important role in the development of精神分裂症(SCZ) and major depressive disorders (MDD). We designed this study to investigate whether common DNA variants or their genetic interactions withinGRM7GMR8基因与汉族人口中的这些疾病有关。十四个SNPGRM7在包括1235名SCZ患者，1045例MDD患者和1235个正常对照组的样品集中选择了GRM8。观察到SCZ病例对照受试者的显着关联（rs2229902）（已排定的PALLELE = 0.0005，OR = 1.492 [95％CI = 1.231-1.807]）和RS9870680（置换率）]） 在GRM7and rs2237781 (permutated Pallele=0.0027, OR=1.346 [95% CI=1.149-1.575]) in GRM8. Association analysis for MDD case-control subjects revealed positive results in rs779706 (permutated Pallele=0.0099, OR=1.237 [95% CI=1.093-1.399]) ofGRM7and in rs1361995 (permutated Pallele=0.0017, OR=1.488 [95% CI=1.215-1.823]) of GRM8. Moreover, a three-locus model, constituted by polymorphisms inGRM7and GRM8 significantly correlated with MDD in the gene-gene interaction analysis. Meta-analysis and haplotype analysis further confirmed our significant results. We demonstrated the genetic association ofGRM7和han中国人口中的SCZ和MDD的GRM8。我们还发现，这两个基因与两种精神疾病的敏感性交互作用，这可能会为它们的病因提供新的见解。 |
| SCZ Keywords | 精神分裂症，精神分裂症 |