COMT基因多态性与利培酮治疗精神分裂症临床疗效及认知功能的关联性分析  

The association of catechol-O-methyl transferase gene polymorphism with the clinical efficacy of risperidone in the treatment and cognitive function in patients with schizophrenia

作　　者：张艳[1] 康传媛[2] 元静[1] 曾雷[1] 卫芋君 徐莉[1] 杨建中[1] 

机构地区：[1]昆明医科大学第二附属医院精神科,昆明650101 [2]昆明医科大学第一附属医院精神科,昆明650031

出　　处：《中华行为医学与脑科学杂志》2017年第1期32-36,共5页Chinese Journal of Behavioral Medicine and Brain Science

基　　金：国家自然科学基金地区基金项目（81160170）;云南省卫生厅卫生系统学科带头人培养项目（D-201237）

摘　　要：目的 探讨儿茶酚氧位甲基转移酶（catechol-O-methyl transferase,COMT）基因多态性与利培酮治疗精神分裂症临床疗效和认知功能之间的关系.方法 收集105例汉族精神分裂症患者和汉族健康对照168例,精神分裂症患者服用利培酮12周后以PANSS量表、数字划消测验、瑞文标准推理测验、顺背及倒背数字评估疗效,检测COMT基因rs165599、rs4680、rs6267、rs737865位点多态性.结果 （1）rs737865在本研究样本中不是多态性位点;（2） rs4680位点在精神分裂症患者和对照组间的等位基因频率与基因型频率的分布差异有统计学意义（x^2 =8.16,P=0.02）;单倍型仅rs165599-rs4680的GA型在精神分裂症和对照组间的差异有统计学意义（x^2=4.35,P=0.04）;（3）治疗后PANSS总分[（47.64±5.75）分]、分量表得分[分别为阳性症状（11.66±2.90）分,阴性症状（13.79±3.18）分,一般精神病性症状（22.09±3.59）分]以及五因子模型得分较治疗前[分别为总分（89.92±10.53）分,阳性症状（23.50±4.68）分,阴性症状（24.69±5.03）分,一般精神病性症状（41.67±6.98）分]降低（P＜0.05）;治疗后数字划消分值较治疗前有上升（t值分别为-12.34、-10.17、-4.34,均P＜0.05）,顺背与倒背数字测试分值较治疗前上升（t=-5.57,P=0.00）;瑞文标准推理测试结果分值上升（t=-19.05,P=0.00）;（4）rs 165599位点不同基因型在治疗后瞬时记忆变化值差异具有统计学意义（F=4.06,P=0.02）;（5）rs4680不同基因型在治疗后PANSS阴性症状因子的差异具有统计学意义（F=3.11,P=0.049）;（6）rs 6267不同基因型在治疗后阴性症状（F=4.64,P=0.01）、认知损害（F=3.21,P=0.045）、瞬时记忆（F=4.86,P=0.03）的差异具有统计学意义.结论 利培酮可有效改善精神分裂症患者的精神病性症状,促进认知功能的恢复;rs165599-rs4680单倍型GA与精神分裂症存在关联,可能为精神分裂症发病的风险因素.Objective To investigate the relationship between the catechol-O-methyl transferase （COMT） gene polymorphism and the clinical efficacy and cognitive function of risperidone in the treatment of schizophrenia.Methods 105 cases of Han Chinese patients with schizophrenia who were treated with risperidone for 12 weeks and healthy controls of 168 cases were collected.The effect of the drug therapy with the PANSS,digit vigilance test,Raven Standard Progressive Matrices,forward and backward subtests of the digit span test were evaluated,and then the rs 165599,rs4680,rs6267,rs737865 loci in COMT gene were detected.Results （1）rs737865 was not the polymorphic locus in this sample.（2） There was statistically significant between schizophrenia patients and controls in the distribution of allele frequency and genotype frequency in rs4680 （x2=8.16,P=0.02）.Haplotype GA in rs165599-rs4680 was statistically significant in schizophrenia patients and controls （x^2 =4.35,P =0.04）.（3） After treatment,the total score （（47.64±5.75） points）,subscale scores （positive symptoms （11.66±2.90） points,negative symptoms （13.79±3.18）points,general psychotic symptoms （22.09±3.59） points） and scores of five factors model in PANSS decreased and the difference was significant （P〈0.05）;the scores of digital cancellation test increased significantly compared with those before treatment（t value respectively were 12.34,10.17,4.34,all P〈0.05）;the scores of forward and backward subtests of the digit span test were significantly increased compared with those before treatment （t=-5.57,P=0.00） and Raven standard reasoning test scores had increased significant （t=-19.05,P=0.00）.（4） The difference of instantaneous memory score changes among rs 165599 genotypes was statistically significant after treatment （F=4.06,P=0.02）.（5） The difference of negative syndromes of PANSS among rs 165599 genotypes was statistically significant after treatment （F=3.11,P=0.049）.（6） The differ

关 键 词：儿茶酚胺氧位甲基转移酶 精神分裂症 利培酮 疗效 认知功能 

分 类 号：R749.3[医药卫生—神经病学与精神病学]