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10 个基因在精神分裂症患者中的病例对照关联研究:5HTR1A 变异 rs10042486 对精神分裂症和抗精神病药物反应的影响。

Case-control association study for 10 genes in patients with schizophrenia: influence of 5HTR1A variation rs10042486 on schizophrenia and response to antipsychotics.

机构信息

Department of Biomorphology and Biotechnologies, Division of Biology and Genetics, University of Messina, Italy.

出版信息

Eur Arch Psychiatry Clin Neurosci. 2012 Apr;262(3):199-205. doi: 10.1007/s00406-011-0278-3. Epub 2011 Nov 27.

Abstract

The aim of this study is to investigate possible associations between a set of single-nucleotide polymorphisms (SNPs) within 10 genes with Schizophrenia (SCZ) and response to antipsychotics in Korean in-patients treated with antipsychotics. Two hundred and twenty-one SCZ in-patients and 170 psychiatrically healthy controls were genotyped for 42 SNPs within ABCB1, ABCB4, TAP2, CLOCK, CPLX1, CPLX2, SYN2, NRG1, 5HTR1A and GPRIN2. Baseline and final clinical measures, including the Positive and Negative Symptoms Scale (PANSS), were recorded. Rs10042486 within 5HTR1A was associated with both SCZ and clinical improvement on PANSS total scores as well as on PANSS positive and PANSS negative scores. The haplotype analyses focusing on the four, three and two blocks' haplotypes within 5HTR1A confirmed such findings as well. We did not observe any significant association between the remaining genetic variants under investigation in this study and clinical outcomes. Our preliminary findings suggest that rs10042486 within 5HTR1A promoter region could be associated with SCZ and with clinical improvement on PANSS total, positive and negative scores in Korean patients with SCZ. However, taking into account the several limitations of our study, further research is needed to draw more definitive conclusions.

摘要

本研究旨在探讨韩国精神科住院患者接受抗精神病药物治疗时,10 个基因内的一组单核苷酸多态性(SNP)与精神分裂症(SCZ)及对药物的反应之间的可能关联。对 221 名 SCZ 住院患者和 170 名精神健康对照者进行了 ABCB1、ABCB4、TAP2、CLOCK、CPLX1、CPLX2、SYN2、NRG1、5HTR1A 和 GPRIN2 内 42 个 SNP 的基因分型。记录了基线和最终的临床指标,包括阳性和阴性症状量表(PANSS)。5HTR1A 内的 rs10042486 与 SCZ 以及 PANSS 总分以及 PANSS 阳性和 PANSS 阴性评分的临床改善均相关。对 5HTR1A 内四个、三个和两个块的单体型进行的单体型分析也证实了这一发现。我们没有观察到本研究中研究的其余遗传变异与临床结局之间存在任何显著关联。我们的初步发现表明,5HTR1A 启动子区域内的 rs10042486 可能与 SCZ 以及韩国 SCZ 患者的 PANSS 总分、阳性和阴性评分的临床改善相关。然而,考虑到我们研究的几个局限性,需要进一步研究以得出更明确的结论。

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