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精神分裂症与精神分裂症相关蛋白(DTNBP1)基因中P1635和P1655多态性的关联

Association of P1635 and P1655 polymorphisms in dysbindin (DTNBP1) gene with schizophrenia.

作者信息

Alizadeh Fatemeh, Tabatabaiefar Mohammad Amin, Ghadiri Mohammad, Yekaninejad Mir Saeed, Jalilian Nazanin, Noori-Daloii Mohammad Reza

机构信息

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

Department of Psychiatrics, Tehran Psychiatric Institute, Tehran University of Medical Sciences, Tehran, Iran.

出版信息

Acta Neuropsychiatr. 2012 Jun;24(3):155-9. doi: 10.1111/j.1601-5215.2011.00598.x.

Abstract

OBJECTIVES

Schizophrenia (SCZ) is a severe psychiatric disorder with a lifetime prevalence of approximately 1% in most of the populations studied. SCZ is multifactorial with the contribution of multiple susceptibility genes that could act in conjunction with epigenetic processes and environmental factors. There is some evidence supporting the association between genetic variants in dysbindin (DTNBP1) gene and SCZ in populations. In this study, we investigated the association between polymorphisms P1635 and P1655 in dysbindin gene with SCZ.

METHODS

Totally, 115 unrelated patients with SCZ and 117 unrelated healthy volunteers were studied. Genomic DNA was extracted from blood. Genotyping was done with the PCR-RFLP method. The allele and genotype associations were analysed with X 2 test. The Benjamini-Hochberg procedure was used to correct p values for multiple comparisons.

RESULTS

The results showed no significant difference between patients and controls in allelic frequencies or genotypic distributions of SNP P1635 (p = 0.809), but a significant difference between the case and control groups for SNP P1655 (p = 0.009) was found. We could also find a significant positive association between A-C haplotype and SCZ (OR = 1.7, 95% CI 1.18-2.42; p = 0.004, p c = 0.02) and a protective effect for A-G haplotype (p = 0.003, OR = 0.57, 95% CI 1.18-2.42; p = 0.003, p c = 0.02).

CONCLUSION

This study may provide further support for the association between SNP polymorphisms in DTNBP1 and SCZ in the Iranian population. Studies with more markers and subjects for various populations will be necessary to understand the genetic contribution of the gene to the development of SCZ.

摘要

目的

精神分裂症(SCZ)是一种严重的精神障碍,在大多数研究人群中的终生患病率约为1%。SCZ是多因素的,多个易感基因的作用可能与表观遗传过程和环境因素共同发挥作用。有一些证据支持人群中dysbindin(DTNBP1)基因的遗传变异与SCZ之间的关联。在本研究中,我们调查了dysbindin基因多态性P1635和P1655与SCZ之间的关联。

方法

共研究了115例无亲缘关系的SCZ患者和117例无亲缘关系的健康志愿者。从血液中提取基因组DNA。采用PCR-RFLP方法进行基因分型。用X²检验分析等位基因和基因型关联。使用Benjamini-Hochberg程序对多重比较的p值进行校正。

结果

结果显示,SNP P1635的等位基因频率或基因型分布在患者和对照组之间无显著差异(p = 0.809),但SNP P1655在病例组和对照组之间存在显著差异(p = 0.009)。我们还发现A-C单倍型与SCZ之间存在显著正相关(OR = 1.7,95%CI 1.18 - 2.42;p = 0.004,pc = 0.02),而A-G单倍型具有保护作用(p = 0.003,OR = 0.57,95%CI 1.18 - 2.42;p = 0.003,pc = 0.02)。

结论

本研究可能为伊朗人群中DTNBP1基因的SNP多态性与SCZ之间的关联提供进一步支持。有必要对更多人群进行更多标记和受试者的研究,以了解该基因对SCZ发生发展的遗传贡献。

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