1 Psychiatry Res 2001 Sep 103: 147-55
PMID 11549403
标题 CCK-A受体基因启动子区域中的连接多态性(-333G> T和-286A> g)可能与精神分裂症有关。
抽象的 胆囊动蛋白A受体(CCKAR)调节CCK刺激的多巴胺释放和突变CCKAR基因可能会影响个人精神分裂症。我们先前的研究表明-286a> g多态性(以前命名为201a> g)CCKAR基因启动子与精神分裂症。In the present study, we carried out a further investigation of the promoter and intron 1 of theCCKAR基因。In addition to polymorphisms reported previously (-333G>T, -286A>G, -241G>A, 773A>T, and 779T>C), two novel polymorphisms (-388(GT)(8)>(GT)(9) and -85C>G) were identified. These polymorphisms were in a linkage disequilibrium. Association analyses between精神分裂症患者和对照组表明,患者的A等位基因和AA基因型的频率以及-333基因座的GG基因型的频率显着高于对照组。此外,偏执型患者精神分裂症,听觉幻觉或积极的家族病史的频率明显高于对照组。结果支持我们以前的数据,并提出-333G> t和-286a> g多态性在启动子区域中的可能参与。CCKAR基因在倾向精神分裂症
SCZ关键字 精神分裂症,精神分裂症
2 Psychiatry Res 2001 Sep 103: 147-55
PMID 11549403
标题 CCK-A受体基因启动子区域中的连接多态性(-333G> T和-286A> g)可能与精神分裂症有关。
抽象的 胆囊动蛋白A受体(CCKAR)调节CCK刺激的多巴胺释放和突变CCKAR基因可能会影响个人精神分裂症。我们先前的研究表明-286a> g多态性(以前命名为201a> g)CCKAR基因启动子与精神分裂症。In the present study, we carried out a further investigation of the promoter and intron 1 of theCCKAR基因。In addition to polymorphisms reported previously (-333G>T, -286A>G, -241G>A, 773A>T, and 779T>C), two novel polymorphisms (-388(GT)(8)>(GT)(9) and -85C>G) were identified. These polymorphisms were in a linkage disequilibrium. Association analyses between精神分裂症患者和对照组表明,患者的A等位基因和AA基因型的频率以及-333基因座的GG基因型的频率显着高于对照组。此外,偏执型患者精神分裂症,听觉幻觉或积极的家族病史的频率明显高于对照组。结果支持我们以前的数据,并提出-333G> t和-286a> g多态性在启动子区域中的可能参与。CCKAR基因在倾向精神分裂症
SCZ关键字 精神分裂症,精神分裂症
3 Schizophr. Res. 2006 Jun 84: 253-71
PMID 16632332
标题 缺氧调节基因和精神分裂症的神经发育起源。
抽象的 神经发育的变化可能是大脑功能障碍的基础精神分裂症。尽管在我们对遗传学的理解中取得了进步精神分裂症,关于非遗传因素如何与基因相互作用的知之甚少精神分裂症。The present analysis of genes potentially associated with精神分裂症is based on the observation that hypoxia prevails in the embryonic and fetal brain, and that interactions between neuronal genes, molecular regulators of hypoxia, such as hypoxia-inducible factor 1 (HIF-1), and intrinsic hypoxia occur in the developing brain and may create the conditions for complex changes in neurodevelopment. Consequently, we searched the literature for currently hypothesized candidate genes for susceptibility to精神分裂症that may be subject to ischemia-hypoxia regulation and/or associated with vascular expression. Genes were considered when at least two independent reports of a significant association with精神分裂症had appeared in the literature. The analysis showed that more than 50% of these genes, particularly AKT1, BDNF, CAPON,CCKAR,Chrna7,CNR1,COMT,DNTBP1,GAD1,GRM3,IL10,MLC1,NOTCH4,NRG1,NRG1,NR4A2/NURR1,PRODH,RERN,RERN,RGS4,RTN4/NOGO和TNF,受到低氧和/或/或/或/或/或/或/或/或/或/或/或/或/或/或/或/或/或/或/或/或/或/或/或/或/或/或/或/或/或/或/或/或/或/或或/或或/或脉管系统。未来对提出的基因作为候选者的易感性的研究精神分裂症should include their possible regulation by physiological or pathological hypoxia during development as well as their potential role in cerebral vascular function.
SCZ关键字 精神分裂症,精神分裂症
4 摩尔。精神病学2007年11月12日:1011-25
PMID 17457313
标题 双相情感障碍和精神分裂症的4P15-P16候选区域的染色体分析。
抽象的 几项独立的连锁研究已将4P15-P16染色体确定为对双相情感障碍易感性(BP)的推定区域精神分裂症(SCZ)和相关表型。以前,我们确定了4P15-P16区域的两个子区域(B和D),这些区域由所检查的四个4P连接家庭中的三个共享。在这里,我们描述了B和D区域的大规模关联分析(分别为3.8和4.5 MB)。我们从国际HAPMAP项目中选择了408个单倍型单核苷酸多态性(SNP),并在368 bp,386 SCZ和458个对照个体中对其进行了测试。使用程序SNPSPD中实现的主成分分析确定名义意义阈值。在B区,重叠的SNP和单倍型符合区域范围的阈值(P CCKARand DKFZp761B107 overlapped with these regions. This study has identified significant associations between BP and SCZ within the chromosome 4p linkage region, resulting in candidate regions worthy of further investigation.
SCZ关键字 精神分裂症,精神分裂症
5 Acta Psychiatr Scand 2009年10月120日:281-7
PMID 19753663
标题 An intron 1 polymorphism in the cholecystokinin-A receptor gene associated with schizophrenia in males.
抽象的 确定神经肽胆囊蛋白蛋白A受体的遗传变异(rs1800857; ivs1-5t> c)(CCKAR)基因是发病机理的危险因素精神分裂症
在包括508例患者的病例对照设计中分析了这种变异精神分裂症和1619个对照对象。该变体对CCKAR在外显子捕获测定中分析了通过剪接改变的蛋白质合成。
仅在男性中,风险变体IVS1-5C与患的风险显着增加精神分裂症。带有一个风险等位基因的风险与1.74(赔率比)和纯合性(CC)的风险增加有关,与AN或3.19相关。这种变化对蛋白质合成没有影响CCKAR
This is the first report associating theCCKARgene variant with精神分裂症specifically in men. Our study strengthens the conclusion that aCCKAR功能障碍可能参与精神分裂症
SCZ关键字 精神分裂症,精神分裂症
6 是。J. Med。基因。B Neuropsychiatr。基因。2012年9月159b:741-7
PMID 22825913
标题 偏偏精神分裂症中CCK-A受体基因的等位基因异质性的研究。
抽象的 A型A型胆囊动蛋白受体(CCKAR)发现基因与患者的正症状有关精神分裂症but the results reported to date are inconsistent. Considering the involvement of allelic heterogeneity in poor replication of theCCKARfinding, we genotyped five single nucleotide polymorphisms (SNPs) located in the 5' putative regulatory region of theCCKARgene in a Chinese case-control sample and then applied the 5-SNP haplotype analysis to extract allelic heterogeneity information. The results showed that three individual haplotypes were strongly associated with increased risk of精神分裂症(corrected P = 2.9 � 10(-4), P = 2.5 � 10(-5), and P = 1.4 � 10(-5), respectively) and their combination gave an odds ratio (OR) of 6.12 with 95% CI 3.67-10.21 (P = 6.7 � 10(-15)). The haplotypes were also associated with some clinical symptoms including hallucination, suspiciousness, and hostility. Our work provided further evidence in support of theCCKAR假设精神分裂症还建议基于单倍型的关联分析可能是鉴定出疾病基因的等位基因异质性的有力方法,这很可能是由于样本能力的降低和复杂性而导致初始发现的不良复制,这很可能归因于不良的复制。遗传体系结构。
SCZ关键字 精神分裂症,精神分裂症
7 PLOS ONE 2013 -1 8:E53643
PMID 23341962
标题 胆囊动蛋白A受体(CCKAR)基因变异与语言横向化有关。
抽象的 精神分裂症是一种与非典型的惯用性和语言横向化有关的精神障碍。但是,这些功能变化的基础机制仍然很少了解。因此,本研究的目的是研究精神分裂症-related genes modulates individual lateralization patterns. To this end, we genotyped 16 single nucleotide polymorphisms that have previously been linked to精神分裂症在444个遗传无关的健康参与者的样本中,在荟萃分析上,研究了这些多态性与惯性,脚步和语言侧向化的关联。我们发现胆囊成蛋白A受体有显着关联(CCKAR)基因变异RS1800857和使用Dichotic听力任务评估的语言横向化。携带的个人精神分裂症risk allele C of this polymorphism showed a marked reduction of the typical left-hemispheric dominance for language processing. Since the cholecystokinin A receptor is involved in dopamine release in the central nervous system, these findings suggest that genetic variation in this receptor may modulate language lateralization due to its impact on dopaminergic pathways.
SCZ关键字 精神分裂症,精神分裂症
8 Zhongguo yi Xue ke Xue Yuan Xue Bao 2014年10月36日:466-9
PMID 25360641
标题 通用电气(深度测序缩胆囊素受体ne to get loci associated with schizophrenia].
抽象的 To find the risk loci on cholecystokinin A receptor gene (CCKAR) - 一个精神分裂症candidate gene by using the deep sequencing and then analyze the variations.
在本研究中,8精神分裂症招募患者和8个健康对照。从外周血提取DNA后,我们对CCKAR卤素目标富集系统(Agilent)区域。我们使用未基于的软件来排除假阳性。
经过深入测序后,我们获得了103个基因座,其中30个位于CCKAR基因。此外,发现SNP RS191275118与精神分裂症
A new variation that may be associated with精神分裂症was found. The deep sequencing is effective to find genetic variation.
SCZ关键字 精神分裂症,精神分裂症
9 Biomed Rep 2014年9月2日:729-736
PMID 25054019
标题 与精神分裂症风险相关的10种多态性的荟萃分析。
抽象的 精神分裂症(SCZ) is a severe complex psychiatric disorder that generates problems for the associated family and society and causes disability with regards to work for patients. The aim of the present study was to assess the contribution of 10 genetic polymorphisms to SCZ susceptibility. Meta-analyses were conducted using the data without a limitation for time or language. A total of 27 studies with 7 genes and 10 polymorphisms were selected for the meta-analyses. Two polymorphisms were found to be significantly associated with SCZ. SNAP25 rs3746544 was shown to increase the SCZ risk by 18% [P=0.01; odds ratio (OR), 1.18; 95% confidence interval (CI), 1.05-1.34] and GRIK3 rs6691840 was found to increase the risk by 30% (P=0.008; OR, 1.30; 95% CI, 1.07-1.58). Significant results were found under the dominant (P=0.001; OR, 1.36; 95% CI, 1.13-1.65) and additive (P=0.02; OR, 1.45; 95% CI, 1.06-1.98) model for the SNAP25 rs3746544 polymorphism and under the additive model for the GRIK3 rs6691840 polymorphism (P=0.03; OR, 1.73; 95% CI, 1.04-2.85). There were no significant results observed for the other eight polymorphisms, which wereCCKARRS1800857,CHRNA7 RS904952,CHRNA7 RS6494223,CHRNA7 RS2337506,DBH INS> DEL,FEZ1 RS559668,FEZ1 RS597570和GCLM RS23010222。总之,目前的荟萃分析表明,SNAP25 RS3746544和GRIK3 RS6691840多态性是SCZ的危险因素,这可能为SCZ的临床诊断提供有价值的信息。
SCZ关键字 精神分裂症,精神分裂症
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