AKT1基因多态性与利培酮治疗精神分裂症8周疗效的关联研究  

Association of AKT1gene polymorphisms with therapeutic effects of 8-week treatment with risperidone

作　　者：李小钧[1] 卢天兰[1] 岳伟华[1] 张岱[1] 

机构地区：[1]北京大学第六医院,北京大学精神卫生研究所,卫生部精神卫生学重点实验室(北京大学),国家精神心理疾病临床医学研究中心(北大六院),北京100191

出　　处：《中国心理卫生杂志》2018年第2期125-129,共5页Chinese Mental Health Journal

摘　　要：目的:探讨AKT1基因多态性与利培酮治疗首发、未用药精神分裂症8周后疗效的关联。方法:共入组150例符合美国精神障碍诊断与统计手册第4版(DSM-IV)诊断标准的汉族精神分裂症门诊或住院患者,其中完成利培酮(治疗剂量4~6 mg/d)治疗8周者为128例。采用治疗8周后阳性与阴性症状量表(PANSS)减分率评估药物疗效;采用DNA测序方法,在128例汉族精神分裂症患者中,检测AKT1基因4个单核苷酸多态性(SNP)位点(rs1130214、rs10149779、rs1130233、rs2494732)的基因型,并采用数量性状位点分析方法(QTL)探索AKT1基因多态性与利培酮治疗精神分裂症疗效的关联。结果:AKT1基因rs1130233(G>A)及rs2494732多态性(C>T)与利培酮治疗精神分裂症8周后PANSS减分率关联显著(P<0.05),经多重检验Bonferroni校正后仍有统计学意义。而rs1130214与rs10149779在本样本中与利培酮疗效的关联无统计学意义(P>0.05)。结论:本研究提示在中国汉族人群中,AKT1基因多态性可能与利培酮治疗精神分裂症急性期疗效关联,有望对个体化药物疗效预测提供依据。Objective： To investigate the association of AKT1 gene polymorphism with risperidone in the treat- ment of first-episode and untreated schizophrenia for 8 weeks. Methods： A total of 150 patients with Chinese schiz- ophrenia who met DSM-IV, including 128 cases of risperidone （treatment dose 4 -6 mg/d） for 8 weeks were trea- ted with risperidone （treatment dose 4 -6 mg/d）. The Positive and Negative Symptom Scale （PANSS） reduction rate was used to evaluate the curative effect of drugs after 8 weeks. Using DNA sequencing, four single nucleotide polymorphisms （SNP） loci （rsl 130214, rs10149779, rs1130233, rs2494732） genotype were detected in 128 Han pa- tients with schizophrenia, and quantitative trait locus analysis （ QTL ） was used to explore the association between AKTI gene polymorphisms and the efficacy of rispeddone in the treatment of schizophrenia. Results： AKT1 gene rsl 130233 （G 〉 A） and rs2494732（C 〉 T） were silznificantlv associated with the increase in PANSS after 8-week ris-peridone treatment of schizophrenia （ P 〈 0. 05）. After repeated testing Bonferroni correction was still statistically significant. The correlation between rs1130214and rs10149779 in this sample was not statistically significant （P 〉 0. 05）. Conelusion： This study suggests that polymorphisms of the AKTI gene may be associated with the efficacy of risperidone in the treatment of schizophrenia in the Chinese Han population and is expected to provide a basis for the prediction of individual drug efficacy.

关 键 词：精神分裂症 AKT1基因 多态性 利培酮 疗效 

分 类 号：R749.3[医药卫生—神经病学与精神病学]