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人胆囊收缩素A受体基因的新型多态性:与精神分裂症的关联分析

Novel polymorphisms of the human cholecystokinin A receptor gene: an association analysis with schizophrenia.

作者信息

Tachikawa H, Harada S, Kawanishi Y, Okubo T, Shiraishi H

机构信息

Department of Psychiatry, Institute of Clinical Medicine, University of Tsukuba, Tsukuba City, Japan.

出版信息

Am J Med Genet. 2000 Apr 3;96(2):141-5. doi: 10.1002/(sici)1096-8628(20000403)96:2<141::aid-ajmg3>3.0.co;2-r.

Abstract

The cholecystokinin A receptor (CCK-AR) modulates CCK-stimulated dopamine release in the posterior nucleus accumbens, and its gene is mapped to 4p15.2-15.1 with the dopamine receptor 5 (DR5) gene. We speculated that alterations in the CCK-AR lead to an increase in dopamine release, which may in turn constitute a predisposition in schizophrenia. We investigated genetic variations in the promoter region and the coding region of the CCK-AR gene. An association analysis was conducted between 83 unrelated schizophrenic patients and 80 healthy controls. Novel polymorphisms (201A-->G, 246G-->A in the promoter region, 1260T-->A, 1266T-->C in intron 1 within the 3' mRNA splice acceptor site consensus sequence, and Leu306Leu in exon 5) were found in addition to the variants (608G-->A in intron 1, 3849C-->T [Ile296Ile] in exon 5) reported previously. Significant differences were found in the allele frequencies of the 201A-->G nucleotide substitution in the promoter region between patients and controls (P = 0.0181, odds ratio: 1.972, after Bonferroni correction: P = 0.0543). These differences were also found between the patients with paranoid type and controls (P = 0.0274, odds ratio = 3.667, after Bonferroni correction: P = 0.0822). Our analyses suggest that the 201A allele frequency was higher in the schizophrenic group, especially in the paranoid type, than in the control group at a rate that was not quite significant after Bonferroni correction. Am J. Med Genet. (Neuropsychiatr. Genet.) 96:141-145, 2000.

摘要

胆囊收缩素A受体(CCK - AR)调节伏隔核后部中胆囊收缩素刺激的多巴胺释放,其基因与多巴胺受体5(DR5)基因定位于4p15.2 - 15.1。我们推测CCK - AR的改变会导致多巴胺释放增加,这可能进而构成精神分裂症的一种易感性。我们研究了CCK - AR基因启动子区域和编码区域的遗传变异。对83例无亲缘关系的精神分裂症患者和80名健康对照进行了关联分析。除了先前报道的变异(内含子1中的608G→A,外显子5中的3849C→T [Ile296Ile])外,还发现了新的多态性(启动子区域的201A→G、246G→A,3' mRNA剪接受体位点共有序列内内含子1中的1260T→A、1266T→C,以及外显子5中的Leu306Leu)。患者与对照之间在启动子区域201A→G核苷酸替换的等位基因频率上存在显著差异(P = 0.0181,优势比:1.972,经Bonferroni校正后:P = 0.0543)。在偏执型患者与对照之间也发现了这些差异(P = 0.0274,优势比 = 3.667,经Bonferroni校正后:P = 0.0822)。我们的分析表明,精神分裂症组,尤其是偏执型患者中,201A等位基因频率高于对照组,经Bonferroni校正后虽差异不太显著。《美国医学遗传学杂志》(神经精神遗传学)96:141 - 145,2000年。

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