Department of Neuropsychiatry, School of Medicine, Kyung Hee University, Seoul 130-701, Republic of Korea.
Gene. 2013 Sep 10;526(2):182-6. doi: 10.1016/j.gene.2013.04.058. Epub 2013 Apr 30.
Immunological dysregulation has been suggested to be involved in the pathogenesis of schizophrenia. Accumulating evidences further implicate that activated inflammatory processes may be particularly relevant for the precipitation of negative and cognitive symptoms of schizophrenia. Toll-like receptor 2 (TLR2) plays an important role in innate immunity by sensing a variety of pathogens and inducing an acquired immunity. In the present study, we investigated whether the coding region of single nucleotide polymorphisms (SNPs) of the TLR2 gene was associated with schizophrenia as well as with clinical symptoms in schizophrenia patients. The study population consisted of 286 Korean schizophrenia patients and 305 Korean control subjects. The assessment of the Scale for the Assessment of Negative Symptoms was used to evaluate the negative symptoms of schizophrenia; the operational criteria checklist was used to measure general psychopathology. We selected two cSNPs [rs3804099 (Asn199Asn) and rs3804100 (Ser450Ser)] considering their heterozygosity and minor allele frequency. SNP genotyping was conducted using direct sequencing. We did not find any significant associations between SNPs and schizophrenia in the genotype and allelic frequencies. On the other hand, in the analysis of cognitive symptoms, rs3804099 showed significant differences in schizophrenia patients with poor concentration in the dominant model (TC/CC vs. TT, p=0.0099). Also, rs3804100 showed a significant association with poor concentration in the co-dominant (TC vs. TT, p=0.014) and the dominant models (TC/CC vs. TT, p=0.0035). We obtained no significant support for the association of the TLR2 gene with susceptibility to schizophrenia in the Korean population. However, our results provide possibility that C allele of rs3804099 and rs3804100 may be associated with poor concentration in schizophrenia patients. Further studies with larger samples are required to confirm our results.
免疫失调被认为与精神分裂症的发病机制有关。越来越多的证据进一步表明，激活的炎症过程可能与精神分裂症的阴性和认知症状的发生特别相关。Toll 样受体 2（TLR2）通过感知各种病原体并诱导获得性免疫，在先天免疫中发挥重要作用。在本研究中，我们调查了 TLR2 基因编码区单核苷酸多态性（SNP）是否与精神分裂症以及精神分裂症患者的临床症状有关。研究人群包括 286 名韩国精神分裂症患者和 305 名韩国对照。使用阴性症状评定量表评估精神分裂症的阴性症状；使用操作标准检查表测量一般精神病学。考虑到其杂合性和次要等位基因频率，我们选择了两个 cSNP [rs3804099（Asn199Asn）和 rs3804100（Ser450Ser）]。使用直接测序进行 SNP 基因分型。我们没有发现 SNP 与精神分裂症在基因型和等位基因频率之间存在任何显著关联。另一方面，在认知症状分析中，rs3804099 在注意力不集中的精神分裂症患者中，在显性模型（TC/CC 与 TT，p=0.0099）中显示出显著差异。此外，rs3804100 在共显性（TC 与 TT，p=0.014）和显性模型（TC/CC 与 TT，p=0.0035）中与注意力不集中显著相关。我们没有得到 TLR2 基因与韩国人群精神分裂症易感性相关的显著支持。然而，我们的结果表明，rs3804099 和 rs3804100 的 C 等位基因可能与精神分裂症患者的注意力不集中有关。需要进一步的研究来验证我们的结果。
