| 1 | Pharmacogenet. Genomics 2006 Mar 16: 151-7 |
|---|---|
| PMID | 16495774 |
| 标题 | 精神分裂症患者的内皮一氧化氮合酶（NOS3）遗传变异和迟发性运动障碍的单倍型分析。 |
| Abstract | Several studies have indicated the involvement of nitric oxide (NO) in the pathogenesis of tardive dyskinesia (TD), an incapacitating adverse movement disorder associated with long-term antipsychotic treatment. In human brain, the NO could be generated by endothelial nitric oxide synthase (NOS3). In this study, we studied whether the genetic variants in humanNOS3gene is associated with TD in patients withschizophrenia. Two hundred and eighty-two chronic inpatients withschizophreniatreated with typical antipsychotics were recruited in this study. The patients were further grouped by the presence of TD or not according to the Research and Diagnostic Criteria for TD. The genetic variants in theNOS3gene investigated in this study were -786T > C in the promotor region, 27-bp variable number of tandem repeats (27-bp VNTR) in intron 4, and Glu298Asp in exon 7. The frequencies of genotypes, alleles and haplotypes of the three markers were compared between the TD (n = 153) and non-TD (n = 129) groups. There were no significant associations between the genotypes and alleles of the three markers and TD. However, in the haplotype-based case-control analysis, the frequency of haplotype T-4b-Glu was significantly higher in non-TD than in TD group (TD vs. non-TD = 72.7% vs. 81.0%, permutation P value = 0.021, OR = 0.648, 95% CI = 0.432-0.973). 我们发现单倍型T-4B-GLU代表了长期抗精神病药物治疗后针对TD的保护性单倍型。这一发现表明人类NOS3gene may be involved in the pathogenesis of TD. |
| SCZ关键字 | schizophrenia |
| 2 | J.阿尔茨海默氏症。2007年8月12日：73-92 |
| PMID | 17851196 |
| 标题 | 阿尔茨海默氏病的遗传学。一个快速发展的领域。 |
| Abstract | Genetic factors have a variable impact on Alzheimer's Disease (AD), ranging from familial forms that are transmitted in an autosomal dominant fashion to sporadic AD, where a polygenic component is present. Most genes conferring susceptibility to AD are related to amyloid-beta deposition (APP; PS1; PS2; APOE; Cystatin-C; ubiquilin-1), oxidative stress (NOS2;NOS3) and inflammatory response (IL-1 alpha; IL-1 beta; IL-6; TNF-alpha). Genome-wide analyses, transcriptomics and proteomics approaches have pointed also to proapoptotic genes as increasing AD liability. Depression and psychotic symptoms that occur in a large proportion of AD patients have been associated with monoamine genes coding for metabolic enzymes (COMT), transporters (5-HTTLPR) and receptors (DRD1; DRD3). Genetic testing may be useful to confirm the diagnosis of AD in individuals with clinical signs of dementia, while it is generally not recommended as a predictive testing for AD in asymptomatic individuals. Drugs currently in use to treat AD are effective in only 20% of patients; their therapeutic effect is predominantly under genetic control (CYP26 gene; APOE). Environmental factors have been shown to moderate the effects of genes on psychiatric disorders such as depression,schizophrenia和多动症。对AD中基因环境相互作用的研究仍然尚未理解，对于预测无症状个体疾病风险至关重要。基因组学将为AD中的生物学过程和即将发生的抗AD药物的新靶标提供动态图。 |
| SCZ关键字 | schizophrenia |
| 3 | Int. J. Neuropsychopharmacol. 2008 Jun 11: 477-83 |
| PMID | 18257968 |
| 标题 | 协会的功能ional polymorphisms in NOS1 and NOS3 with loudness dependence of auditory evoked potentials. |
| Abstract | 一氧化氮（NO）是一种具有神经递质特性的气态分子，与中枢神经系统（CNS），血管系统以及巨噬细胞中的许多功能有关。NOS1和NOS3genes have been shown to be associated with different psychiatric disorders such asschizophreniaand bipolar disorder. Therefore, the detection of other characteristics of nitrinergic transmission is desirable. Because nitrinergic functioning influences serotonergic transmission, a functional marker of the serotonergic transmission, the loudness dependence of auditory evoked potentials (LDAEP), can be assumed to be influenced by nitrinergic changes as well. In order to clarify the relationship between nitrinergic transmission and LDAEP, 95 healthy subjects (41 males, 54 females) underwent electrophysiological recording and blood drawing for genotyping of single nucleotide polymorphisms (SNPs) and haplotypes of the NOS1 andNOS3genes. Interestingly, two functional SNPs in both NOS1 (G-84A_exon 1c promoter polymorphism) andNOS3(Glu298Asp) were associated with lower LDAEP. Further studies are needed to fully clarify the relationship between nitrinergic transmission, LDAEP and complex disorders such asschizophreniaand affective disorders. |
| SCZ关键字 | schizophrenia |
| 4 | Adv Gerontol 2015 -1 28: 228-47 |
| PMID | 26856084 |
| 标题 | 人年龄相关疾病的遗传学。 |
| Abstract | 衰老是不可避免的生物学现象。年龄相关疾病（ARDS）的发生率，例如心血管疾病，癌症，关节炎，痴呆，骨质疏松症，糖尿病，神经退行性疾病随着衰老而迅速增加。对于世界老年人口（60岁以上），ARDS已成为关键的社会和经济麻烦，预计到2050年将达到20亿。了解遗传关联的进步，尤其是通过基因组广泛的关联研究（GWAS），已经显示基因对人衰老和ARD的实质性贡献。在这篇综述中，我们集中于最近对遗传易感性影响衰老过程的程度的了解。通过途径分析对遗传关联研究的进一步分析已突出显示，例如载脂蛋白E（APOE），脑衍生的神经营养因子（BDNF），钙粘蛋白13（CDH13），CDK5调节性亚基相关蛋白1（CDKL-1），甲基苯甲酸叶酸还原酶（MTHFR），被破坏schizophrenia1 (DISC1), nitric oxide synthase 3 (NOS3), paraoxonase 1 (PON1), indicating that these genes could play a pivotal role in ARD causation. These genes were found to be significantly enriched in Jak-STAT signalling pathway, asthma and allograft rejection. Further, interleukin-6 (IL-6), insulin (INS), vascular endothelial growth factor A (VEGFA), estrogen receptor1 (ESR1), transforming growth factor, beta 1(TGFB1) and calmodulin 1 (CALM1) were found to be highly interconnected in network analysis. We believe that extensive research on the presence of common genetic variants among various ARDs may facilitate scientists to understand the biology behind ARDs causation. |
| SCZ关键字 | schizophrenia |