1 Am. J. Med. Genet. B Neuropsychiatr. Genet. 2011 Dec 156B: 949-59
PMID 21990008
标题 Interaction between genetic variants of DLGAP3 and SLC1A1 affecting the risk of atypical antipsychotics-induced obsessive-compulsive symptoms.
抽象的 Adverse effects of atypical antipsychotics (AAP) can include obsessive-compulsive (OC) symptoms. Based on biological evidence of the relationship between the glutamatergic system and both OC disorder and AAP, this study aimed to determine whetherDLGAP3, coding a post-synaptic scaffolding protein of glutamatergic synapses, is associated with AAP-induced OC symptoms. Furthermore, we explored the interactions betweenDLGAP3and a previously reported susceptibility gene, the glutamate transporter gene SLC1A1, regarding this phenotype. Subjects were clinically stableschizophrenia接受AAP治疗的患者(n = 94),他们组成OC组(n = 40)和非OC组(n = 54)(分别有AAP诱导的OC症状的患者)。我们对七个TAG单核苷酸多态性进行了等位基因/基因型/单型关联分析DLGAP3and gene-gene interaction analyses with rs2228622 of SLC1A1, observing a nominally significant association between AAP-induced OC symptoms and rs7525948 in both simple chi-square tests and the regression analyses (nominal P < 0.05). In the logistic regression analysis of gene-gene interaction, we found a significant interaction effect of rs7525948 ofDLGAP3and rs2228622 of SLC1A1 (permutation P = 0.036) on AAP-induced OC symptoms, with a 30.2 times higher odds for individuals carrying risk genotypes at both loci in comparison with the reference group, which had no risk genotypes. This study provides suggestive evidence thatDLGAP3and its interactive effect with SLC1A1 might be involved in susceptibility to developing OC symptoms inschizophreniapatients receiving AAP treatment.
SCZ关键字 精神分裂症,精神分裂症
2 精神病学Res 2013 Jun 208:84-7
PMID 23414653
标题 Exonic resequencing of the DLGAP3 gene as a candidate gene for schizophrenia.
抽象的 我们重新设置了DLGAP3编码SAP90/PSD95相关蛋白3的基因,215schizophrenicpatients and 215 non-psychotic controls. Seven known single-nucleotide polymorphisms (SNPs) were identified, but not associated withschizophrenia。然而,我们确定了几个罕见的错义突变,其中一些可能与schizophrenia
SCZ关键字 精神分裂症,精神分裂症
3 Front Pharmacol 2013 -1 4: 99
PMID 23950745
标题 Comorbid obsessive-compulsive symptoms in schizophrenia: contributions of pharmacological and genetic factors.
抽象的 大约25%的大型子组schizophrenia患者患有强迫症症状(OC),约有12%的患者满足强迫症(OCD)的诊断标准。OC的额外发生与疾病的高主观负担,额外的神经认知障碍,较差的社会和职业功能,更大的服务利用以及高水平的焦虑和抑郁有关。合并症患者可以分配到异质亚组。一个假设假设第二代抗精神病药(SGA)(最重要的是氯氮平)可能会加剧甚至诱导第二次OC。几个论点支持这一假设,最重要的是,观察到的第一次精神病表现的时间顺序,氯氮平开始治疗和OC的开始。另外,OCS-剂量与剂量和血清水平以及氯氮平治疗持续时间之间的相关性暗示了剂量依赖性副作用。已经假设遗传风险因素使患者处置schizophreniato develop OCS. One study in a South Korean sample reported associations with polymorphisms in the gene SLC1A1 (solute carrier family 1A1) and SGA-induced OCS. However, this finding could not be replicated in European patients. Preliminary results also suggest an involvement of polymorphisms in the BDNF gene (brain-derived neurotrophic factor) and an interaction between markers of SLC1A1 and the geneDLGAP3(disc large associated protein 3) as well as GRIN2B (N-methyl-D-aspartate receptor subunit 2B). Further research of well-defined samples, in particular studies investigating possible interactions of genetic risk-constellations and pharmacodynamic properties, are needed to clarify the assumed development of SGA-induced OCS. Results might improve pathogenic concepts and facilitate the definition of at risk populations, early detection and monitoring of OCS as well as multimodal therapeutic interventions.
SCZ关键字 精神分裂症,精神分裂症
4 精神病学Res 2013 Jun 208:84-7
PMID 23414653
标题 Exonic resequencing of the DLGAP3 gene as a candidate gene for schizophrenia.
抽象的 我们重新设置了DLGAP3编码SAP90/PSD95相关蛋白3的基因,215schizophrenicpatients and 215 non-psychotic controls. Seven known single-nucleotide polymorphisms (SNPs) were identified, but not associated withschizophrenia。然而,我们确定了几个罕见的错义突变,其中一些可能与schizophrenia
SCZ关键字 精神分裂症,精神分裂症
5 Adv Med 2014 -1 2014:317980
PMID 26556409
标题 Comorbid Obsessive-Compulsive Symptoms in Schizophrenia: Insight into Pathomechanisms Facilitates Treatment.
抽象的 Insight into the biological pathomechanism of a clinical syndrome facilitates the development of effective interventions. This paper applies this perspective to the important clinical problem of obsessive-compulsive symptoms (OCS) occurring during the lifetime diagnosis ofschizophrenia。多达25%schizophrenia患者患有OCS,约有12%符合强迫症(OCD)的诊断标准。这伴随着明显的疾病主观负担,高水平的焦虑,抑郁和自杀,神经认知障碍增加,社交和职业功能的有利程度较低,以及更多的服务利用。合并症患者可以分配到异质亚组。假定第二代抗精神病药(SGA)(最重要的是氯氮平)可能会加剧甚至诱导第二次抗抑素。一些流行病学和药理论证支持这一假设。特定的遗传危险因素似乎使患者处置schizophreniato develop OCS and risk-conferring polymorphisms has been defined in SLC1A1, BDNF,DLGAP3, GRIN2B和th之间的相互作用ese individual genes. Further research is needed with detailed characterization of large samples. In particular interactions between genetic risk constellations, pharmacological and psychosocial factors should be analysed. Results will further define homogeneous subgroups, which are in need for differential causative interventions. In clinical practise,schizophreniapatients should be carefully monitored for OCS, starting with at-risk mental states of psychosis and longitudinal follow-ups, hopefully leading to the development of multimodal therapeutic interventions.
SCZ关键字 精神分裂症,精神分裂症
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