Since immune dysregulation has been well studied in schizophrenia pathophysiology, recent studies showed a potent role of TLR2 in neuroinflammation process underlying schizophrenia pathogenesis. However, the genetic predisposition is still unclear. Thus, we hypothesized that TLR2 polymorphisms − 196–174 Ins/Del (rs111200466), R753Q (rs5743708), R677W (rs121917864), and P631H (rs5743704) could be involved in schizophrenia predisposition. A case–control study was performed on a Tunisian population composed of 250 healthy controls and 250 patients genotyped by PCR–RFLP. Genotype and allele distribution were evaluated with sex, schizophrenia subtypes, and other clinical features. We also assessed a haplotype analysis for TLR2 polymorphisms with schizophrenia. Our results showed higher ins/del genotype frequency in healthy women compared to patients (p = 0.006; OR = 0.2). In the other hand, logistic regression showed higher ins/del genotype frequency in controls compared to paranoid patients (p = 0.05; OR = 0.48, adjusted). Frequencies of CT and T allele of R677W were significantly higher in patients compared to controls (p < 10⁻⁴, OR = 10.39; p < 10⁻⁴, OR = 4, adjusted, respectively). R753Q polymorphism was exclusively detected in patients (GA + AA = 2.5%) particularly in men with disorganized subtype. P631H did not show any association with schizophrenia. Finally, haplotype analysis showed that InsGTC and delGTC were associated with higher risk of schizophrenia (p = 0.0001, OR = 8.58; p = 0.04, OR = 5.01, respectively). In the Tunisian population, our results suggested that TLR2 R677W could be associated with susceptibility for schizophrenia, while − 196–174 Ins/Del suggested a trend of protection in women. Otherwise, R753Q could have an effect on schizophrenia especially for disorganized subgroup.

由于免疫失调在精神分裂症的病理生理学中得到了很好的研究，最近的研究表明 TLR2 在精神分裂症发病机制的神经炎症过程中具有强大的作用。然而，遗传易感性仍不清楚。因此，我们假设 TLR2 多态性 - 196-174 Ins/Del (rs111200466)、R753Q (rs5743708)、R677W (rs121917864) 和 P631H (rs5743704) 可能与精神分裂症易感性有关。对由 250 名健康对照和 250 名通过 PCR-RFLP 基因分型的患者组成的突尼斯人群进行了病例对照研究。根据性别、精神分裂症亚型和其他临床特征评估基因型和等位基因分布。我们还评估了精神分裂症 TLR2 多态性的单倍型分析。我们的结果显示，与患者相比，健康女性的 ins/del 基因型频率更高（p  = 0.006；或 = 0.2)。另一方面，与偏执狂患者相比，逻辑回归显示对照组的 ins/del 基因型频率更高（p  = 0.05；OR = 0.48，调整后）。与对照组相比，患者中 R677W 的 CT 和 T 等位基因的频率显着更高（p  < 10 ^-4，OR = 10.39；p  < 10 ^-4，OR = 4，分别调整）。R753Q 多态性仅在患者（GA + AA = 2.5%）中检测到，特别是在具有杂乱亚型的男性中。P631H 与精神分裂症没有任何关联。最后，单倍型分析表明，InsGTC 和 delGTC 与更高的精神分裂症风险相关（p  = 0.0001，OR = 8.58；p = 0.04，或 = 5.01，分别）。在突尼斯人群中，我们的结果表明 TLR2 R677W 可能与精神分裂症的易感性有关，而 − 196-174 Ins/Del 表明女性存在保护趋势。否则，R753Q 可能对精神分裂症产生影响，尤其是对于杂乱无章的亚组。