Abstract：
Schizophrenia is a common psychiatric disorder that exhibits a variety of symptoms. The exact etiology and pathogenesis are still doubtful. However, genetic and environmental factors seem to have a role. Years ago, the role of the immune system was focused on auto-antibodies, cytokines, different types of immune cells and immune genes. The Toll-like receptors (TLR) are a cornerstone of the innate immune system, particularly TLR4. TLR4 primarily recognises gram-negative lipopolysaccharides bacteria. This case-control study, for the first time to our knowledge, examined the role of TLR4 gene polymorphisms in 142 Egyptian schizophrenic patients and 175 healthy controls. Using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), four single nucleotide polymorphisms (SNPs) were investigated in the TLR4 gene rs11536889, rs10759931, rs1927911, and rs1927914. The Positive and Negative Syndrome Scale (PANSS) was used in diagnosis and assessment. A statistically significant association was observed between rs11536889, rs1927911 and rs1927914, but no association was found between rs10759931. There was no association between the different SNP genotypes and PANSS, except between rs1927914 and general psychopathologic symptoms. This study shows a strong association between TLR4 rs11356889 and rs1927911 minor alleles and schizophrenia. These findings could be additional evidence for the immune system\'s role in schizophrenia development. However, more studies with a more significant sample number, TLR4 protein assessment, and a larger number of SNPs are recommended.
摘要：
精神分裂症是一种常见的精神疾病，表现出多种症状。确切的病因和发病机制仍然值得怀疑。然而,遗传和环境因素似乎有一定的作用。几年前,免疫系统的作用主要集中在自身抗体上，细胞因子,不同类型的免疫细胞和免疫基因。Toll样受体（TLR）是先天免疫系统的基石，特别是TLR4。TLR4主要识别革兰氏阴性脂多糖细菌。这项病例对照研究，据我们所知，这是第一次，研究了TLR4基因多态性在142例埃及精神分裂症患者和175例健康对照中的作用。使用聚合酶链反应-限制性片段长度多态性（PCR-RFLP），在TLR4基因rs11536889，rs10759931，rs1927911和rs1927914中研究了四个单核苷酸多态性（SNP）。阳性和阴性症状量表（PANSS）用于诊断和评估。在rs11536889，rs1927911和rs1927914之间观察到统计学上的显着关联，但在rs10759931之间没有发现关联。不同的SNP基因型与PANSS之间没有关联，除了rs1927914和一般精神病理症状之间。这项研究表明，TLR4rs11356889和rs1927911次要等位基因与精神分裂症之间存在很强的关联。这些发现可能是免疫系统在精神分裂症发展中的作用的额外证据。然而,更多的研究具有更重要的样本数，TLR4蛋白评估，建议使用更多的SNP。
