Aim. The BDNF dysfunction in the schizophrenia has been soundly documented. The TrkB gene is a high-affinity receptor of the BDNF that is changed in schizophrenia and mood disorders. The study had two aims: first, to identify whether the five nucleotide polymorphisms (SNPs) in TrkB gene are associated with a diagnosis of schizophrenia; and the latter, if any association exists between the TrkB SNPs and psychopathology, suicide attempts, and family history of schizophrenia in a Caucasian population. Methods. Case-control study (401 patients and 657 healthy controls) was used to examine a predisposition for schizophrenia. The tests for psychopathology, suicide attempts, and family history of schizophrenia were conducted only in patient group. The severity of the schizophrenia was measured using the five-factor model of the PANSS. In addition, the haplotype analysis for both the separate for SNPs of TrkB gene and in combination with the rs6265 SNP BDNF gene was conducted. Results. Our case-control study revealed that the genetic variants of rs10868235 (T/T polymorphic genotype) and rs1387923 (G/G polymorphic genotype) of the TrkB gene were associated with a higher risk of developing schizophrenia in men. However, the A/A wild genotype of rs1387923 was connected with a lower risk for both the development of and the family manifestation of schizophrenia in men. The G polymorphic allele of rs1565445 was associated with an increased risk of suicide in schizophrenia. The tested SNPs of the TrkB gene did not modulate the psychopathology of schizophrenia. The haplotype that was built with five SNPs in the TrkB gene was protective for men, but after joining the rs6265 SNP of the BDNF gene, a haplotype that was protective for women was created.

中文翻译：

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精神分裂症五种TrkB基因多态性分析及其单倍型与rs6265 BDNF基因多态性的相互作用。

瞄准。精神分裂症中的 BDNF 功能障碍已得到充分证明。TrkB基因是 BDNF 的高亲和力受体，在精神分裂症和情绪障碍中会发生变化。该研究有两个目的：首先，确定TrkB基因中的五个核苷酸多态性（SNP）是否与精神分裂症的诊断相关；后者，如果TrkB SNP 与高加索人群的精神病理学、自杀企图和精神分裂症家族史之间存在任何关联。方法. 病例对照研究（401 名患者和 657 名健康对照）用于检查精神分裂症的易感性。精神病理学、自杀未遂和精神分裂症家族史的测试仅在患者组中进行。使用 PANSS 的五因素模型测量精神分裂症的严重程度。此外，对单独的TrkB基因的 SNP 和与 rs6265 SNP BDNF基因的组合进行了单倍型分析。结果。我们的病例对照研究揭示了 TrkB 的 rs10868235（T/T 多态基因型）和 rs1387923（G/G 多态基因型）的遗传变异。基因与男性患精神分裂症的风险较高有关。然而，rs1387923 的 A/A 野生基因型与男性精神分裂症的发展和家族表现的风险较低有关。rs1565445 的 G 多态性等位基因与精神分裂症患者的自杀风险增加有关。测试的TrkB基因的 SNP没有调节精神分裂症的精神病理学。由TrkB基因中的五个 SNP 构建的单倍型对男性具有保护作用，但在加入BDNF基因的 rs6265 SNP 后，产生了一种对女性具有保护作用的单倍型。