Department of Medical Genetics, Medical University of Silesia, 30, Ostrogorska Street, 41-200, Sosnowiec, Poland.
J Mol Neurosci. 2011 Mar;43(3):309-15. doi: 10.1007/s12031-010-9442-x. Epub 2010 Sep 4.
Schizophrenia is a multifactorial disease with changes affecting the immune system. Dysregulation of the cytokine network in schizophrenia has been well documented. Such changes may occur due to disturbances in cytokine levels that are linked to polymorphisms of cytokine genes. However, research in the role of cytokine gene polymorphisms in schizophrenia has been surprisingly scanty. The aim of this study was to identify, in a case control study, whether polymorphism of IFN-γ gene is a risk factor for the development of paranoid schizophrenia. To the best of our knowledge, this is the first study that examines the association between the IFN-γ gene polymorphism and psychopathological symptoms in patients with paranoid schizophrenia. Polymorphism of IFN-γ (+874T/A, rs 62559044) in schizophrenic patients (n=179), as well as healthy individuals (n=196), both Polish residents, was genotyped using AS-PCR method. Of note, when analyzing the results, we took into consideration the gender of studied individuals. Surprisingly, a single-nucleotide polymorphism in the first intron of the IFN-γ gene was found to be associated with paranoid schizophrenia in males, but not in females. The presence of allele A at position +874 in the IFN-γ gene correlates with 1.66-fold higher risk of paranoid schizophrenia development in males. Differences in the genotypes may have an important role in determining the level of I gene transcription. Because other polymorphisms have been demonstrated to influence IFN-γ transcription, further analysis is necessary to clarify the role of this gene in the pathogenesis of paranoid schizophrenia.
精神分裂症是一种多因素疾病,会发生影响免疫系统的变化。精神分裂症中细胞因子网络的失调已经得到了充分的证明。这种变化可能是由于细胞因子水平的紊乱引起的,而细胞因子水平的紊乱与细胞因子基因的多态性有关。然而,细胞因子基因多态性在精神分裂症中的作用的研究却出奇地匮乏。本研究的目的是在病例对照研究中确定 IFN-γ 基因多态性是否是偏执型精神分裂症发展的危险因素。据我们所知,这是首次研究 IFN-γ 基因多态性与偏执型精神分裂症患者的精神病理症状之间的关联。使用 AS-PCR 方法对波兰居民中的精神分裂症患者(n=179)和健康个体(n=196)的 IFN-γ(+874T/A,rs62559044)基因多态性进行了基因分型。值得注意的是,在分析结果时,我们考虑了研究个体的性别。令人惊讶的是,IFN-γ 基因第一内含子中的单核苷酸多态性与男性偏执型精神分裂症有关,但与女性无关。IFN-γ 基因+874 位置的等位基因 A 的存在与男性偏执型精神分裂症发病风险增加 1.66 倍相关。基因型的差异可能在决定 I 基因转录水平方面具有重要作用。因为已经证明其他多态性会影响 IFN-γ 转录,因此需要进一步分析以阐明该基因在偏执型精神分裂症发病机制中的作用。