Golimbet V E, Lezheiko T V, Alfimova M V, Abramova L I, Kondrat'ev N V
Genetika. 2014 Jun;50(6):724-8.
Neurotoxic products produced during tryptophan metabolism via the kynurenine pathway could be involved in schizophrenia pathogenesis. It has been shown that kynurenine-3-monooxygenase (KMO) is indirectly involved in these products' formation. KMO polymorphic loci rs2275163 (C/T) and rs1053230 (A/G) were examined in 187 schizophrenia patients and 229 healthy subjects. A genetic combination of allele T and genotype GG was observed more often in a patient group compared with healthy controls (p = 0.003, OR 2.0 (95% CI 1.2-2.9). In the latter group, this combination was associated with schizophrenia endophenotype (p = 0.04), which manifested in a higher expression of schizotypal personality traits assessed using the MMPI test.
色氨酸通过犬尿氨酸途径代谢过程中产生的神经毒性产物可能与精神分裂症的发病机制有关。研究表明，犬尿氨酸-3-单加氧酶（KMO）间接参与了这些产物的形成。对187例精神分裂症患者和229名健康受试者检测了KMO基因多态性位点rs2275163（C/T）和rs1053230（A/G）。与健康对照组相比，患者组中更常观察到等位基因T和基因型GG的遗传组合（p = 0.003，比值比2.0（95%可信区间1.2 - 2.9））。在后者组中，这种组合与精神分裂症内表型相关（p = 0.04），这表现为使用明尼苏达多相人格调查表（MMPI）测试评估的分裂型人格特质的更高表达。
