细胞色素P450 2D6基因多态性与难治性精神分裂症关联研究

Associated study of cytochrome P4502D6 gene polymorphism and refractory schizophrenia

目的 探讨难治性精神分裂症与细胞色素P450 2D6（CYP2D6）基因多态性的关系。方法 用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术分析92例难治性精神分裂症患者的CYP2D6基因多态性,并以92例非难治性精神分裂症患者作为对照。结果 难治性分裂症组CYP2D6基因型C/T（OR=0.47,P=0.043）和等位基因C（OR=0.50,P=0.002）频率显著性低于非难治分裂症组,而其基因型T/T（OR=1.94,P=0.032）和等位基因T（OR=2.00,P=0.002）则显著高于非难治性分裂症组。结论 本组样本中CYP2D6C188T基因多态性与难治性精神分裂症关联,CYP2D6C188T突变可能是难治性精神分裂症发病因素之一,本组中国汉族人中22号染色体长臂（22q13.1）可能存在难治性精神分裂症易感性基因。

Objective To explore the relationship between polymorphism of CYP2D6 gene and refractory schizophrenia in the Han nationality. Methods 92 refractory schizophrenia patients and 92 non-refractory schizophrenia patients were involved in the study. The CYP2D6 gene polymorphism were determined with the polymerase chain reaction and restriction fragment length polymorphism（PCR-RFLP） technique. Results The frequencies of CYP2D6C 188T genetype C/T（ OR = 0.47, P = 0. 043 ） and allele C （ OR = 0.50, P = 0. 002） in refractory schizo- phrenia group were significantly lower than those in non-refractory schizophrenia group , while genetype T/T（ OR = 1.94, P= 0. 032） and allele T（ OR = 2.00, P= 0. 002） were more prevalent in refractory schizophrenia group. Conclusions CYP2D6C188T polymorphism associated with refractory schizophrenia in the Han nationality. And the results suggest that there might be a susceptibility gene to refractory schizophrenia on chromosome22（22q13.1 ）.