| 1 | Behav。麝猫。2006年1月36:112 - 26所示 |
|---|---|
| PMID | 16341909 |
| 标题 | Endophenotypes successfully lead to gene identification: results from the collaborative study on the genetics of alcoholism. |
| 抽象的 | The use of endophenotypes has been proposed as a strategy to aid gene identification efforts for complex phenotypes [Gottesman, I. I., and Shields J. (1972).schizophrenia和Genetics: A Twin Study Vantage Point. London: Academic]. As part of the Collaborative Study of the Genetics of Alcoholism (COGA) project, we have analyzed electrophysiological endophenotypes, in addition to clinical diagnoses, as part of our effort to identify genes involved in the predisposition to alcohol dependence. In this paper we summarize published results from linkage and association analyses of two chromosomal regions in which the use of endophenotypes has successfully led to the identification of genes associated with alcohol dependence [GABRA2 (Edenberg et al., (2004). Am. J. Hum. Genet. 74:705-714) andCHRM2（Wang等人，（2004年）。嗡嗡声摩尔·基因。13：1903-1911）]。我们在COGA项目中的经验是，与诊断表型相比，内型型的分析提供了多个优点，包括连锁信号的强度和定位。我们的结果提供了一个成功使用内型型的说明，以确定对复杂的精神病表型易感性涉及的基因，这是Gottesman和Shields在1972年提出的策略。 |
| SCZ关键字 | schizophrenia |
| 2 | 生物。精神病学2010年10月68日：657-66 |
| PMID | 20691427 |
| 标题 | 精神分裂症中大脑结构网络的遗传关联：一项初步研究。 |
| 抽象的 | schizophreniais a complex genetic disorder, with multiple putative risk genes and many reports of reduced cortical gray matter. Identifying the genetic loci contributing to these structural alterations inschizophrenia（并且很可能达到正常的结构灰质模式）可能有助于理解schizophrenia's pathophysiology. We used structural parameters as potential intermediate illness markers to investigate genomic factors derived from single nucleotide polymorphism (SNP) arrays. 我们使用研究质量beplay苹果手机能用吗的结构磁共振成像（SMRI）扫描来自欧美受试者，包括33名健康对照受试者和18个。schizophreniapatients. All subjects were genotyped for 367 SNPs. Linked sMRI and genetic (SNP) components were extracted to reveal relationships between brain structure and SNPs, using parallel independent component analysis, a novel multivariate approach that operates effectively in small sample sizes. 我们确定了与遗传成分显着相关的SMRI成分（r = -.536，p <.00005）;组件还具有区分群体。在SMRI组件中，schizophreniagray matter deficits were in brain regions consistently implicated in previous reports, including frontal and temporal lobes and thalamus (p < .01). These deficits were related to SNPs from 16 genes, several previously associated withschizophreniarisk and/or involved in normal central nervous system development, including AKT, PI3K, SLC6A4, DRD2,CHRM2和adora2a。 Despite the small sample size, this novel analysis method identified an sMRI component including brain areas previously reported to be abnormal inschizophrenia以及一个包含几个推定的遗传成分schizophreniarisk genes. Thus, we identified multiple genes potentially underlying specific structural brain abnormalities inschizophrenia. |
| SCZ关键字 | schizophrenia |
| 3 | 酒精。临床经验。res。2011年5月35日：963-75 |
| PMID | 21314694 |
| 标题 | Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample. |
| 抽象的 | While genetic influences on alcohol dependence (AD) are substantial, progress in the identification of individual genetic variants that impact on risk has been difficult. We performed a genome-wide association study on 3,169 alcohol consuming subjects from the population-based Molecular Genetics ofschizophrenia(MGS2) control sample. Subjects were asked 7 questions about symptoms of AD which were analyzed by confirmatory factor analysis. Genotyping was performed using the Affymetrix 6.0 array. Three sets of analyses were conducted separately for European American (EA, n = 2,357) and African-American (AA, n = 812) subjects: individual single nucleotide polymorphisms (SNPs), candidate genes and enriched pathways using gene ontology (GO) categories. The symptoms of AD formed a highly coherent single factor. No SNP approached genome-wide significance. In the EA sample, the most significant intragenic SNP was in KCNMA1, the human homolog of the slo-1 gene in C. Elegans. Genes with clusters of significant SNPs included AKAP9, phosphatidylinositol glycan anchor biosynthesis, class G (PIGG), and KCNMA1. In the AA sample, the most significant intragenic SNP was CEACAM6 and genes showing empirically significant SNPs included KCNQ5, SLC35B4, and MGLL. In the candidate gene based analyses, the most significant findings were with ADH1C, nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (NFKB1) and ankyrin repeat and kinase domain containing 1 (ANKK1) in the EA sample, and ADH5, POMC, andCHRM2in the AA sample. The ALIGATOR program identified a significant excess of associated SNPs within and near genes in a substantial number of GO categories over a range of statistical stringencies in both the EA and AA sample. 尽管我们对这些分析的任何结果都无法充满信心，但许多发现具有暗示性和值得跟进。尽管需要大量样本来获得必要的能力，但是对一般人群样本中的AD症状的研究是对鉴定AD遗传风险变异的病例对照研究的可行补充。 |
| SCZ关键字 | schizophrenia |
| 4 | Curr。摩尔。医学2015 -1 15：253-64 |
| PMID | 25817858 |
| 标题 | 毒蕈碱受体可能参与精神疾病：精神分裂症和情绪障碍的重点。 |
| 抽象的 | A considerable body of data supports a role for the central cholinergic system in the aetiologies ofschizophrenia和情绪障碍。在获得毒蕈碱受体（CHRMS）的结构数据方面，了解了它们在中枢神经系统功能和合成的药物中的作用，这些药物的作用是突破性的。这意味着考虑特定CHRMS在病理生理中的作用是合适的schizophrenia和情绪障碍。This review will focus on data suggesting changes in levels of CHRM1 and CHRM4 implicate these receptors in the pathophysiology ofschizophreniawhereas data suggest a role forCHRM2情绪障碍。将在了解CHRM1、2和4在CNS功能中的作用方面的最新发展以及这些受体如何诱导这些机制诱导症状普遍存在的机制中的最新发展。schizophrenia和情绪障碍。最后，将对靶向CHRM1和CHRM4的潜在优势和问题发表评论schizophrenia和CHRM2来treat the symptom of depression. |
| SCZ关键字 | schizophrenia |