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AHI1基因变异对精神分裂症诊断及治疗结果的影响。

The influence of AHI1 variants on the diagnosis and treatment outcome in schizophrenia.

作者信息

Porcelli Stefano, Pae Chi-Un, Han Changsu, Lee Soo-Jung, Patkar Ashwin A, Masand Prakash S, Balzarro Beatrice, Alberti Siegfried, De Ronchi Diana, Serretti Alessandro

机构信息

Institute of Psychiatry, Department of Biomedical and NeuroMotor Sciences, University of Bologna, Bologna 40123, Italy.

Department of Psychiatry, the Catholic University of Korea College of Medicine, Seoul 137701, Korea.

出版信息

Int J Mol Sci. 2015 Jan 22;16(2):2517-29. doi: 10.3390/ijms16022517.

Abstract

The present study aimed to explore whether four single nucleotide polymorphisms (SNPs) within the AHI1 gene could be associated with schizophrenia (SCZ) and whether they could predict the clinical outcomes in SCZ patients treated with antipsychotics. Four hundred twenty-six (426) in-patients with SCZ and 345 controls were genotyped for four AHI1 SNPs (rs11154801, rs7750586, rs9647635 and rs9321501). Baseline and clinical measures for SCZ patients were assessed through the Positive and Negative Syndrome Scale (PANSS). Allelic and genotypic frequencies in SCZ subjects were compared with those of controls using the χ2 statistics. The repeated-measure ANOVA was used for the assessment of treatment outcomes measured by PANSS changes. The case-control analysis did not show any difference in the genotypic distribution of the SNPs, while in the allelic analysis, a weak association was found between the rs9647635 A allele and SCZ. Furthermore, in the haplotype analysis, three haplotypes resulted in being associated with SCZ. On the other hand, two SNPs (rs7750586 and rs9647635) were associated with clinical improvement of negative symptoms in the allelic analysis, although in the genotypic analysis, only trends of association were found for the same SNPs. Our findings suggest a possible influence of AHI1 variants on SCZ susceptibility and antipsychotic response, particularly concerning negative symptomatology. Subsequent well-designed studies would be mandatory to confirm our results due to the methodological shortcomings of the present study.

摘要

本研究旨在探讨AHI1基因内的四个单核苷酸多态性(SNP)是否与精神分裂症(SCZ)相关,以及它们是否能够预测接受抗精神病药物治疗的SCZ患者的临床结局。对426例SCZ住院患者和345例对照进行了四个AHI1 SNP(rs11154801、rs7750586、rs9647635和rs9321501)的基因分型。通过阳性和阴性症状量表(PANSS)评估SCZ患者的基线和临床指标。使用χ2统计量比较SCZ受试者与对照的等位基因和基因型频率。重复测量方差分析用于评估以PANSS变化衡量的治疗结局。病例对照分析未显示SNP的基因型分布有任何差异,而在等位基因分析中,发现rs9647635 A等位基因与SCZ之间存在弱关联。此外,在单倍型分析中,三种单倍型与SCZ相关。另一方面,在等位基因分析中,两个SNP(rs7750586和rs9647635)与阴性症状的临床改善相关,尽管在基因型分析中,仅发现相同SNP存在关联趋势。我们的研究结果表明AHI1变异可能对SCZ易感性和抗精神病反应有影响,特别是关于阴性症状学。由于本研究的方法学缺陷,后续需要精心设计的研究来证实我们的结果。

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