首发精神分裂症患者临床表现与22号染色体上可能候选基因的关联分析

目的 寻找精神分裂症相对独立的症状表现,并探索其与22号染色体上可能候选基因儿茶酚氧位甲基转移酶(COMT)基因和脯氨酸脱氢酶(PRODH)基因的相关性。方法 采用阳性和阴性症状量表(PANSS)对232例首发精神分裂症患者的症状进行评定,运用因子分析方法得到经PANSS评定后相对独立的症状因子,然后用QTDT软件对PANSS评定总分和各症状因子与COMT和PRODH基因的5个候选单核苷酸多态性位点进行定量性状的关联分析。结果 PANSS症状评定的方差最大化主因子分析,显示出4个主要因子成分:精神运动贫乏、瓦解症状、现实歪曲、抑郁及焦虑症状,未发现PANSS的总分、各因子分与PRODH和COMT基因有关,均P>0.05。结论 首发精神分裂症患者存在精神运动贫乏、瓦解症状、现实歪曲和情感症状4组相对独立的症状,这些症状与COMT和PRODH基因无相关。

Association study of clinical presentation in first-episode schizophrenia and possible candidate genes in chromosome 22

Objective To find the relative independent clinical presentation in schizophrenia and explore the association between symptoms and possible candidate genes of catechol-O-methyltransferase (COMT) and proline dehydrogenase (PRODH) in chromosome 22. Methods Clinical symptoms of 232 first-episode schizophrenia patients were assessed with the Positive and Negative Syndrome Scale (PANSS). The symptoms were clustered into relative independent factors using factor analysis. The association between clinical symptoms and single nucleotide polymorphisms of COMT and PRODH genes were analyzed using transmission disequilibrium test. Results The PANSS symptoms were clustered into four factors including psychomotor poverty, disorganization, reality distort, depression and anxiety. There was no association between the symptom cluster factors and possible candidate genes in chromosome 22ql 1 ( all P > 0. 05). Conclusion There are four important symptom clusters, i. e. , psychomotor poverty, disorganization, reality distort, depression and anxiety, in schizophrenia. It indicates no linkage disequilibrium between COMT, PRODH genes in chromosome 22q11 and schizophrenia.