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伊朗人群中TCF4和GRM8基因多态性与精神分裂症风险:一项病例对照研究

TCF4 and GRM8 gene polymorphisms and risk of schizophrenia in an Iranian population: a case-control study.

作者信息

Tavakkoly-Bazzaz Javad, Azarnezhad Asaad, Mousavi Negar, Salehipour Pouya, Shahsavand Ananloo Esmaeil, Alizadeh Fatemeh

机构信息

Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.

Cellular and Molecular Research Center, Kurdistan University of Medical Sciences, Sanandaj, Iran.

出版信息

Mol Biol Rep. 2018 Dec;45(6):2403-2409. doi: 10.1007/s11033-018-4406-2. Epub 2018 Oct 4.

Abstract

TCF4 and GRM8, two significant genes involved in the normal nervous development and glutamate pathway, are thought to be involved in the pathogenesis of schizophrenia (SCZ). We aimed to explore the association of TCF4 and GRM8 gene polymorphisms with risk of SCZ. The rs8766 in TCF4 and rs712723 in GRM8 were selected for genotyping in a set of Iranian case-control samples including 215 patients and 220 matched healthy controls using polymerase chain reaction-restriction fragment length polymorphism. Although rs8766 increased the OR, we found that rs8766 allele and genotype frequencies were not significantly different between case and control groups and a significant association cannot be suggested for the selected SNP. However, allele C and genotype CC (allele C: OR 1.48, 95% CI 1.13-1.94; genotype CC: OR 1.71, 95% CI 1.09-2.68) of rs712723 polymorphism was found to have a significant association with risk of SCZ. Frequency of allele C (P = 0.003) and genotype CC (P = 0.017) was higher in the schizophrenic patients, while allele T (P = 0.003) and genotype TT (P = 0.028) frequencies were found lower in patients. Our findings indicate that rs712723 in GRM8 may play an important role in the pathogenesis of SCZ. However, our conclusion needs to be confirmed in other population.

摘要

TCF4和GRM8是两个参与正常神经发育和谷氨酸途径的重要基因,被认为与精神分裂症(SCZ)的发病机制有关。我们旨在探讨TCF4和GRM8基因多态性与SCZ风险的关联。在一组伊朗病例对照样本(包括215例患者和220例匹配的健康对照)中,使用聚合酶链反应-限制性片段长度多态性对TCF4中的rs8766和GRM8中的rs712723进行基因分型。尽管rs8766增加了比值比,但我们发现病例组和对照组之间rs8766等位基因和基因型频率没有显著差异,因此不能认为所选单核苷酸多态性存在显著关联。然而,发现rs712723多态性的等位基因C和基因型CC(等位基因C:比值比1.48,95%置信区间1.13 - 1.94;基因型CC:比值比1.71,95%置信区间1.09 - 2.68)与SCZ风险存在显著关联。精神分裂症患者中,等位基因C(P = 0.003)和基因型CC(P = 0.017)的频率较高,而等位基因T(P = 0.003)和基因型TT(P = 0.028)的频率在患者中较低。我们的研究结果表明,GRM8中的rs712723可能在SCZ的发病机制中起重要作用。然而,我们的结论需要在其他人群中得到证实。

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