| 1 | Neuropsychobiology 2000 -1 41: 124-6 |
|---|---|
| PMID | 10754425 |
| 标题 | The human serotonin receptor gene (HTR2) MspI polymorphism in Japanese schizophrenic and alcoholic patients. |
| Abstract | 酒精中毒的流行病学和遗传研究schizophreniahave been performed, and in this study, the human serotonin receptor (HTR2) polymorphism was examined in 75 alcoholics and 31schizophrenicpatients. We found that there might not be a significant difference between these psychiatric disease patients and controls in the frequency of the C1/C2HTR2 gene (MspI polymorphism). The results suggest that the human HTR2 MspI polymorphism might not be associated with a risk factor for developing alcohol dependence or susceptibility toschizophrenia。It is possible that there may be a racial difference in the frequency of the C1/C2gene between Japanese and Caucasians. Further studies are required to determine whether or not the novel serotonin receptor polymorphism reflects the pathogenesis of alcoholism orschizophrenia。 |
| SCZ关键字 | schizophrenia, schizophrenic, schizophrenics, schizotypal |
| 2 | Neuropsychobiology 2000 -1 41: 124-6 |
| PMID | 10754425 |
| 标题 | The human serotonin receptor gene (HTR2) MspI polymorphism in Japanese schizophrenic and alcoholic patients. |
| Abstract | 酒精中毒的流行病学和遗传研究schizophreniahave been performed, and in this study, the human serotonin receptor (HTR2) polymorphism was examined in 75 alcoholics and 31schizophrenicpatients. We found that there might not be a significant difference between these psychiatric disease patients and controls in the frequency of the C1/C2HTR2 gene (MspI polymorphism). The results suggest that the human HTR2 MspI polymorphism might not be associated with a risk factor for developing alcohol dependence or susceptibility toschizophrenia。It is possible that there may be a racial difference in the frequency of the C1/C2gene between Japanese and Caucasians. Further studies are required to determine whether or not the novel serotonin receptor polymorphism reflects the pathogenesis of alcoholism orschizophrenia。 |
| SCZ关键字 | schizophrenia, schizophrenic, schizophrenics, schizotypal |
| 3 | 健康技术评估2001 -1 5：1-75 |
| PMID | 11532238 |
| 标题 | Systematic reviews of the effectiveness of day care for people with severe mental disorders: (1) acute day hospital versus admission; (2) vocational rehabilitation; (3) day hospital versus outpatient care. |
| Abstract | ***ACUTE DAY HOSPITAL VERSUS ADMISSION FOR ACUTE PSYCHIATRIC DISORDERS*** Inpatient treatment is an expensive way of caring for people with acute psychiatric disorders. It has been proposed that many of those currently treated as inpatients could be cared for in acute psychiatric day hospitals. The aim of this review was to assess the effectiveness and feasibility of day hospital versus inpatient care for people with acute psychiatric disorders. 研究随机对照试验的资格of day hospital versus inpatient care for people with acute psychiatric disorders. Studies were excluded if they were primarily concerned with elderly people, children, or patients with a diagnosis of organic brain disease or substance abuse. METHODS - DATA SOURCES: We searched the Cochrane Controlled Trials Register, MEDLINE, EMBASE, CINAHL, PsycLIT, and the reference lists of articles. Researchers were approached to identify unpublished studies. Trialists were asked to provide individual patient data. METHODS - DATA EXTRACTION: Data were extracted independently by two reviewers and cross-checked. METHODS - DATA SYNTHESIS: Relative risk (RR) and 95% confidence intervals (CIs) were calculated for dichotomous data. Weighted or standardised means were calculated for continuous data. Day hospital trials tend to present similar outcomes in slightly different formats, making it difficult to synthesise the data. Individual patient data were therefore sought so that outcomes could be re-analysed using a common format. Nine trials met the inclusion criteria (involving 1568 randomised patients and 2268 assessed for suitability of day hospital treatment). Individual patient data were obtained for four trials (involving 594 people). A sensitivity analysis of combined data suggested that day hospital treatment was feasible for at worst 23.2% (n = 2268; 95% CI, 21.2 to 25.2) and at best 37.5% (n = 1768; 95% CI, 35.2 to 39.8) of those currently admitted to inpatient care. Individual patient data from three trials showed no difference in the number of days in hospital (combining day hospital days and inpatient days) between day hospital patients and controls (n = 465; weighted mean difference (WMD) = -0.38 days/ month; 95% CI, -1.32 to 0.55). However, compared with controls, patients randomised to day hospital care spent significantly more days in day hospital care (n = 265; WMD = 2.34 days/month; 95% CI, 1.97 to 2.70) and significantly fewer days in inpatient care (n = 265; WMD = -2.75 days/month; 95% CI, -3.63 to -1.87). There was no difference between readmission rates for day hospital and control patients (n = 667; RR = 0.91; 95% CI, 0.72 to 1.15). Individual patient data from three trials showed a significant time-treatment interaction, indicating a more rapid improvement in mental state (n = 407;C2= 9.66; p = 0.002), but not social functioning (n = 295;C2= 0.006; p = 0.941) amongst day hospital patients. Four of five trials demonstrated that day hospital care was cheaper than inpatient care (with overall cost reductions ranging from 20.9% to 36.9%). 在si急性天医院是一个有吸引力的选项tuations where demand for inpatient care is high and facilities exist that are suitable for conversion. They are a less attractive option when demand for inpatient care is low and where effective alternatives already exist. The interpretation of day hospital research would be enhanced if future trials made use of the common set of outcome measures used in this review. It is important to examine how acute day hospital care can be most effectively integrated into a modern community-based psychiatric service. ***VOCATIONAL REHABILITATION FOR PEOPLE WITH SEVERE MENTAL DISORDERS*** 因严重精神障碍而残疾的人会经历高失业率，但大多数人都想工作。曾经的培训（PVT）是帮助这些人重返工作岗位的传统方法。PVT假设在患有严重精神障碍的人可以从事竞争性就业之前，需要进行一段时间的准备。支持的就业（SEM）是一种新方法，可以将客户置于竞争性就业，而无需扩展准备。PVT和SEM都广泛实践，但目前尚不清楚哪个是最有效的。 The overall objective of this review was to assess the effectiveness of PVT and SEm relative to each other and to standard care (in hospital or the community) for people with severe mental disorders. In addition, the review examined the effectiveness of: (1) special types of PVT ("clubhouse" model) and SEm (individual placement and support model); and (2) modifications for enhancing PVT (e.g. payment or psychological interventions). 研究随机对照试验的资格(RCTs) examining the effectiveness of vocational rehabilitation approaches (PVT and SEm or modifications) for people of working age and suffering from a severe mental disorder. METHODS - DATA SOURCES: Relevant trials were identified from searches of the CochraneschizophreniaGroup's specialised register, MEDLINE, EMBASE, CINAHL and PsycLIT, and the reference lists of all identified studies and review articles. Researchers who were active in the field were approached in order to identify unpublished studies. METHODS - DATA EXTRACTION: All data were extracted independently by two reviewers and cross-checked. Continuous data were excluded if they were collected by using an unpublished scale or were based on a subset of items from a scale. METHODS - DATA SYNTHESIS: For all comparisons, the primary outcome was the number of clients who were in competitive employment at various time points. Secondary outcomes were: other employment outcomes, clinical outcome and costs. The relative risk (RR) and number-needed-to-treat (NNT) were calculated for the relevant categorical outcomes. Continuous data were either presented as in the original trial reports or, where possible, combined across trials as a standardised mean difference score. Eighteen RCTs of reasonable quality were identified: PVT versus hospital controls, three RCTs, n = 172; PVT versus community controls, five RCTs, n = 1204; modified PVT, four RCTs, n = 423; SEm versus community controls, one RCT, n = 256; and SEm versus PVT, five RCTs, n = 491). The main finding was that, on the primary outcome (number in competitive employment), SEm was significantly more effective than PVT at all time points (e.g. at 12 months, SEm 34% employed, PVT 12% employed; RR of not being in competitive employment = 0.76, 95% confidence interval 0.69 to 0.84, NNT = 4.5). Clients in SEm also earned more and worked more hours per month than those in PVT. The main finding was that SEm was more effective than PVT for patients suffering from a severe mental disorder who wanted to work. There was no evidence that PVT was more effective than standard community care or hospital care. The implication of these findings is that people suffering from mental disorders who want to work should be offered the option of SEm. Commissioning agencies would be justified in encouraging vocational rehabilitation (VR) providers to develop more SEm schemes. From a research perspective, the cost-effectiveness of SEm should be examined in larger multicentre trials, both within and outside the USA. There is a case for countries outside the USA to survey their existing VR services to determine the extent to which the most effective interventions are being offered. ***DAY HOSPITAL VERSUS OUTPATIENT CARE FOR PATIENTS WITH PSYCHIATRIC DISORDERS*** This review considers the use of day hospitals as an alternative to outpatient care. Two typesof day hospital provision are covered: "day treatment programmes" and "day care centres". Day treatment programmes are day hospitals that are used to enhance the treatment of patients with anxiety or depressive disorders who have failed to respond to outpatient care. Day care centres are day hospitals that offer structured support to patients with long-term severe mental disorders who would otherwise be treated in an outpatient clinic. There were two objectives: first, to assess the effectiveness of day treatment programmes versus outpatient care for people with non-psychotic disorders; and, secondly, to assess the effectiveness of day care centres versus outpatient care for people with severe long-term disorders. 研究随机对照试验的资格comparing day hospital care (either a day treatment programme or a day care centre) with outpatient care. Studies were ineligible if they were largely restricted to patients who were aged under 18 or over 65 years or who had a primary diagnosis of substance abuse or organic brain disorder. METHODS - DATA SOURCES: Relevant trials were identified from searches of the Cochrane Controlled Trials Register, MEDLINE, EMBASE, CINAHL, PsycLIT, and the reference lists of all identified studies and review articles. Researchers were approached to identify unpublished studies. Trialists were asked to provide individual patient data. METHODS - DATA EXTRACTION: All data were extracted independently by two reviewers and cross-checked. METHODS - DATA SYNTHESIS: Relative risks and 95% confidence intervals were calculated for dichotomous data. Standardised mean differences were calculated for continuous data. 有来自两个五项试验证据identified suggesting that day treatment programmes were superior to continuing outpatient care in terms of improving psychiatric symptoms. There was no evidence to suggest that day treatment programmes were better or worse than outpatient care on any other clinical or social outcome variable or on costs. (ABSTRACT TRUNCATED) |
| SCZ关键字 | schizophrenia, schizophrenic, schizophrenics, schizotypal |
| 4 | Neurotox Res 2002 Mar 4: 147-50 |
| PMID | 12829415 |
| 标题 | The adrenochrome hypothesis of schizophrenia revisited. |
| Abstract | This paper reviews the current status of the adrenochrome theory ofschizophrenia。An account is first given of all the experiments in which adrenochrome was reported to induce psychotomimetic effects in normal volunteers. Then the evidence is presented that adrenochrome may actually occur in the brain as a metabolite of adrenaline in theC2group of adrenergic neurons in the medulla, together with an account of current ideas of the function of these neurons in higher limbic functions. Lastly the recent evidence is reviewed that the gene for the enzyme glutathione S-transferase is defective inschizophrenia。This enzyme detoxifies adrenochrome. |
| SCZ关键字 | schizophrenia, schizophrenic, schizophrenics, schizotypal |
| 5 | Biol. Pharm. Bull. 2002 Mar 25: 291-301 |
| PMID | 11913521 |
| 标题 | Molecular pharmacology of the Na+-dependent transport of acidic amino acids in the mammalian central nervous system. |
| Abstract | The Na+-dependent transport of L-glutamate (GluT) has been identified in brain tissue more than thirty years ago. Neurochemical studies, performed in various experimental models during 1970's, defined the basic rules for the selection or synthesis of GluT-specific substrates and inhibitors. The protein molecules (transporters) that mediate the translocation of the substrates across the plasma membrane have been cloned and studied during the last ten years. The sites on the transporters that bind the substrates favour glutamate-like or aspartate-like molecules with one positively charged and two negatively charged ionised groups. Substituents at C3 and C4 are often tolerated but substitutions atC2或可离子组的改变通常会阻碍结合。底物结合位点对立体异构体具有“异常”选择性。这些结构要求均由所有Na+依赖性谷氨酸转运蛋白共享，从而使转运蛋白选择配体的设计成为具有挑战性的任务。此外，尚未充分阐明运输的分子机制。来自各种实验研究的数据强烈表明，Na+依赖性的GLUT调节了谷氨酸能兴奋性突触的功能 - 哺乳动物大脑中最重要的快速神经元信号系统。Na+依赖性谷氨酸转运蛋白的结构和/或功能特性的改变已与大脑缺血后对脑组织的损害以及在阿尔茨海默氏症痴呆症和蛋白质营养性侧面硬化症等条件下的神经元的进行性丧失。此外，似乎通过调节Na+依赖性的GLUT对谷氨酸能神经传递的微调可能在治疗中有用schizophrenia。 |
| SCZ关键字 | schizophrenia, schizophrenic, schizophrenics, schizotypal |
| 6 | Neurosci. Lett. 2005 Feb 374: 35-7 |
| PMID | 15631892 |
| 标题 | Classical pathway complement activity in schizophrenia. |
| Abstract | There is considerable evidence to suggest a role for complement in the pathogenesis ofschizophrenia, but the data related to the classical pathway complement activity in patients withschizophrenia发生冲突。在本研究中，补体的总溶血活性和单个补体成分的活性C1，C2, C3 and C4, were determined in the blood serum ofschizophrenicpatients with positive family history of the disease and healthy subjects. In comparison to the healthy subjects, the mean values of the hemolytic activities of the C1, C3 and C4 complement components in the serum of theschizophrenicpatients were significantly higher, and the mean value of the hemolytic activity of theC2complement component was significantly lower. However, no significant difference was found between the mean values of the total hemolytic activity of complement inschizophrenicpatients and healthy subjects. The C3 hemolytic activity was 2.17 times higher in medicated patients than in drug-free patients. Within each group examined no significant difference was found between smokers and non-smokers or between males and females. The results of this study suggest that the pathogenesis ofschizophreniais associated with alterations in activities of complement classical pathway components. |
| SCZ关键字 | schizophrenia, schizophrenic, schizophrenics, schizotypal |
| 7 | Neurosci. Lett. 2005 Feb 374: 35-7 |
| PMID | 15631892 |
| 标题 | Classical pathway complement activity in schizophrenia. |
| Abstract | There is considerable evidence to suggest a role for complement in the pathogenesis ofschizophrenia, but the data related to the classical pathway complement activity in patients withschizophrenia发生冲突。在本研究中，补体的总溶血活性和单个补体成分的活性C1，C2, C3 and C4, were determined in the blood serum ofschizophrenicpatients with positive family history of the disease and healthy subjects. In comparison to the healthy subjects, the mean values of the hemolytic activities of the C1, C3 and C4 complement components in the serum of theschizophrenicpatients were significantly higher, and the mean value of the hemolytic activity of theC2complement component was significantly lower. However, no significant difference was found between the mean values of the total hemolytic activity of complement inschizophrenicpatients and healthy subjects. The C3 hemolytic activity was 2.17 times higher in medicated patients than in drug-free patients. Within each group examined no significant difference was found between smokers and non-smokers or between males and females. The results of this study suggest that the pathogenesis ofschizophreniais associated with alterations in activities of complement classical pathway components. |
| SCZ关键字 | schizophrenia, schizophrenic, schizophrenics, schizotypal |
| 8 | Eur Neuropsychopharmacol 2005 May 15: 271-7 |
| PMID | 15820415 |
| 标题 | Haloperidol treatments increased macrophage activity in male and female rats: influence of corticosterone and prolactin serum levels. |
| Abstract | Haloperidol is a receptor D2 antagonist frequently used in the treatment ofschizophrenicpatients. Haloperidol increased prolactin release from anterior pituitary gland, and prolactin modulates immune system activity. Groups of six male and female rats received an acute 2 mg/kg haloperidol treatment (E1), or a long-term (E2) haloperidol treatments (2 mg/kg/day for 21 days); control rats were treated similarly, but with control solution (groups C1 andC2, respectively). In this work long-term haloperidol treatment (E2) increased macrophage spreading, phagocytosis and NO release in male and female rats. However, acute haloperidol treatment (E1) did not change macrophage activity. Corticosterone and prolactin serum levels were increased after acute (E1) and long-term (E2) haloperidol treatments in male and female rats, being this increment higher in female. Macrophage of male and female rats presented the same pattern of alterations after acute and long-term haloperidol treatments. Haloperidol-induced macrophage activation was discussed in the light of a possible indirect effect through prolactin increments in rats, or, alternatively, as a consequence of a direct action of macrophage dopamine receptor. |
| SCZ关键字 | schizophrenia, schizophrenic, schizophrenics, schizotypal |
| 9 | Zh Nevrol Psikhiatr Im S S Korsakova 2007 -1 107: 58-60 |
| PMID | 18477981 |
| 标题 | [The association study of the DRD2 gene C939T polymorphism and schizophrenia.]. |
| Abstract | Physiological evidences and several association studies suggest that the DRD2 gene is implicated in the pathogenesis ofschizophrenia。DRD2 Capital ES，Cyrillic939Capital TE，西里尔（RS6275）单核苷酸多态性在272例患者和362例健康对照组中进行了基因分型。这种多态性与schizophreniawas found (p=0,02), the frequency of the TT genotype being higher in patients compared to the controls (C2=7,2; small er, Cyrillic=0,007; OR=1,96, 95% CI=1,2-3,2). The results obtained replicate the data of a previous study of the association between the T allele andschizophrenia。 |
| SCZ关键字 | schizophrenia, schizophrenic, schizophrenics, schizotypal |
| 10 | BMC Psychiatry 2009 -1 9: 17 |
| PMID | 19405953 |
| 标题 | Proteome analysis of schizophrenia patients Wernicke's area reveals an energy metabolism dysregulation. |
| Abstract | schizophrenia可能是DNA改变的结果，DNA改变将导致蛋白质表达差异和疾病的最终建立。上级的颞回与schizophreniaand executes functions such as the processing of speech, language skills and sound processing. We performed an individual comparative proteome analysis using two-dimensional gel electrophoresis of 9schizophrenia6健康控制病人的左后吃晚饭erior temporal gyrus (Wernicke's area - BA22p) identifying by mass spectrometry several protein expression alterations that could be related to the disease. Our analysis revealed 11 downregulated and 14 upregulated proteins, most of them related to energy metabolism. Whereas many of the identified proteins have been previously implicated inschizophrenia, such as fructose-bisphosphate aldolase C, creatine kinase and neuron-specific enolase, new putative disease markers were also identified such as dihydrolipoyl dehydrogenase, tropomyosin 3, breast cancer metastasis-suppressor 1, heterogeneous nuclear ribonucleoproteins C1/C2和磷酸盐载体蛋白、线粒体precursor. Besides, the differential expression of peroxiredoxin 6 (PRDX6) and glial fibrillary acidic protein (GFAP) were confirmed by western blot inschizophreniaprefrontal cortex. 我们的数据支持能量代谢的失调schizophreniaas well as suggests new markers that may contribute to a better understanding of this complex disease. |
| SCZ关键字 | schizophrenia, schizophrenic, schizophrenics, schizotypal |
| 11 | Psychiatry Res 2011 Dec 190: 364-6 |
| PMID | 21684615 |
| 标题 | Altering the expression balance of hnRNP C1 and C2 changes the expression of myelination-related genes. |
| Abstract | The expression level of hnRNP C1/C2protein has been reported to be significantly decreased in the post-mortem brain ofschizophrenicpatients. In this study, we investigated whether overexpression of the hnRNP C variants hnRNP C1 andC2changed the expression of myelination-related genes in the human neuroblastoma cell line SK-N-SH. In both hnRNP C1- andC2-overexpressing cells, the expression of quaking (QKI)-6 and QKI-7 significantly increased or decreased compared to the control, respectively. Intriguingly, QKI-5 and myelin basic protein were markedly up- or down-regulated by overexpressing hnRNPC2， 分别。我们的发现是第一个展示HNRNP C1和C2, and may be helpful in understanding the functions of these molecules. These findings indicate that altered expression levels of hnRNP C in the brain of patients withschizophreniacould be involved in the pathophysiology of this disease through alteration of the QKI isoform and myelin basic protein expression. |
| SCZ关键字 | schizophrenia, schizophrenic, schizophrenics, schizotypal |
| 12 | Psychiatry Res 2011 Dec 190: 364-6 |
| PMID | 21684615 |
| 标题 | Altering the expression balance of hnRNP C1 and C2 changes the expression of myelination-related genes. |
| Abstract | The expression level of hnRNP C1/C2protein has been reported to be significantly decreased in the post-mortem brain ofschizophrenicpatients. In this study, we investigated whether overexpression of the hnRNP C variants hnRNP C1 andC2changed the expression of myelination-related genes in the human neuroblastoma cell line SK-N-SH. In both hnRNP C1- andC2-overexpressing cells, the expression of quaking (QKI)-6 and QKI-7 significantly increased or decreased compared to the control, respectively. Intriguingly, QKI-5 and myelin basic protein were markedly up- or down-regulated by overexpressing hnRNPC2， 分别。我们的发现是第一个展示HNRNP C1和C2, and may be helpful in understanding the functions of these molecules. These findings indicate that altered expression levels of hnRNP C in the brain of patients withschizophreniacould be involved in the pathophysiology of this disease through alteration of the QKI isoform and myelin basic protein expression. |
| SCZ关键字 | schizophrenia, schizophrenic, schizophrenics, schizotypal |
| 13 | Psychiatry Res 2011 Apr 186: 320-5 |
| PMID | 20699194 |
| 标题 | The Zuckerman-Kuhlman Personality Questionnaire predicts functioning styles of personality disorder: a trial in healthy subjects and personality-disorder patients. |
| Abstract | Normal personality traits, as measured by the Zuckerman-Kuhlman Personality Questionnaire (ZKPQ), predicted some personality disorders in a sample of healthy volunteers. Whether these predictions could be more pronounced in patients with personality disorders remains unknown. We administered the ZKPQ and the Parker Personality Measure (PERM), which describes the functioning styles of personality disorder, in 134 patients with a range of personality disorders and in 268 age-, gender- and education level-matched healthy volunteers. Cluster A patients scored lowest on Sociability, cluster B highest on Impulsive Sensation Seeking and Aggression-Hostility, cluster C1 (Avoidant and Dependent types) highest on Neuroticism-Anxiety, and clusterC2(Obsessive-Compulsive type) highest on Activity. Most of the predictors were consistent across both the healthy and patient groups. The variances that accounted for predicting most PERM styles by the ZKPQ traits in the patient group were higher than those in the healthy group. Our results showed that the ZKPQ traits could specifically predict the PERM styles in both healthy subjects and personality-disorder patients. This result was more pronounced in the latter group. The most powerful predictions were obtained for Antisocial, Dependent, Borderline and Avoidant styles, and the weakest for theschizotypaland Schizoid styles in the patient group. |
| SCZ关键字 | schizophrenia, schizophrenic, schizophrenics, schizotypal |
| 14 | Neuroscience 2012 Dec 225: 35-43 |
| PMID | 22960622 |
| 标题 | Developmental expression and subcellular distribution of synaptotagmin 11 in rat hippocampus. |
| Abstract | Synaptotagmins are required for Ca(2+)-dependent membrane-trafficking in either neuronal synaptic vesicles or cellular membranes. Previous reports suggested that the synaptotagmin 11 (syt11) gene is involved in the development ofschizophreniabased on the genomic analysis of patients. Parkin protein binds to theC2domains of Syt11 which leads to the polyubiquitination of Syt11. However, where and how Syt11 performs its role in the brain is largely unknown. Here, we report that Syt11 is expressed mainly in the brain. In addition, exogenously expressed Syt11 in HEK293 cells can form higher molecular weight complex via its transmembrane domain. Also, Syt11 is targeted to both dendrite and axon compartments. Immunocytochemistry showed that Syt11 is juxtaposed to postsynaptic markers in both excitatory and inhibitory synapses. Both neuroligin 1 and 2, which are postsynaptic cell adhesion molecules and differentially induce excitatory and inhibitory presynapses, respectively, recruit Syt11 in neuron coculture. Immunogold electron microscopy analysis revealed that Syt11 exists mainly in presynaptic neurotransmitter vesicles and plasma membrane, and rarely in postsynaptic sites. These results suggest that Syt11 may contribute to the regulation of neurotransmitter release in the excitatory and inhibitory presynapses, and postsynapse-targeted membrane trafficking in dendrites. |
| SCZ关键字 | schizophrenia, schizophrenic, schizophrenics, schizotypal |
| 15 | Yi Chuan 2012 Mar 34: 307-14 |
| PMID | 22425949 |
| 标题 | [A family-based association study of the EGR3 gene polymorphisms and schizophrenia]. |
| Abstract | Previous studies showed that EGR3 gene located in chromosome 8p21.3 was involved in the etiology ofschizophrenia。However, the finding failed to be replicated in several case-control studies. To investigate the genetic role of the EGR3 gene in Chinese psychiatric patients, we genotyped five single nucleotide polymorphisms (SNPs) in EGR3 gene locus using 93 nuclear families in Han Chinese, and performed transmission disequilibrium test (TDT). In this study, two SNPs (rs1996147 and rs3750192) showed significant association withschizophrenia(C2>4.40, P<0.05). In the linkage disequilibrium analysis, the significant association was also found in two- (rs3750192-rs35201266), three- (rs1877670- rs3750192-rs7009708) and four-SNP (rs1996147-rs1877670-rs3750192-rs7009708) tests of haplotype analyses (C2>7.10, global P<0.05). Overall, the results suggested that EGR3 gene may play an important role inschizophreniasusceptibility in the Han Chinese population, and further functional exploration of the EGR3 gene will contribute to the underlying molecular mechanism forschizophreniapathogenesis. |
| SCZ关键字 | schizophrenia, schizophrenic, schizophrenics, schizotypal |
| 16 | Mol. Biol. Rep. 2012 Mar 39: 2253-8 |
| PMID | 21643746 |
| 标题 | HFE mutations and transferrin C1/C2 polymorphism among Croatian patients with schizophrenia and schizoaffective disorder. |
| Abstract | The aim of this study was to investigate the possible influence of hemochromatosis gene mutations (HFE-C282Y and H63D) and transferrin geneC2variant (TF-C2) on susceptibility toschizophreniaand schizoaffective disorder and/or age at first hospital admission. Genotyping was performed in 176 Croatian patients and 171 non-psychiatric Croatian controls using PCR-RFLP analyses. Regarding the H63D mutation, allele and genotype frequencies reached boundary statistical significance. Other allele and genotype distributions were not significantly different between two groups. We also analyzed age at first hospital admission as a continuous variable using the non-parametric Mann-Whitney U-test and Kruskal-Wallis test, and multiple regression analysis. The results of these tests were negative. We concluded that investigated HFE mutations and TF-C2variant are not high-risk genetic variants forschizophrenia/schizoaffective disorder in our population. Also our data do not support their impact on age at onset of the first psychotic symptoms. |
| SCZ关键字 | schizophrenia, schizophrenic, schizophrenics, schizotypal |