摘要
目的 探索精神分裂症患者及其亲属共同存在的神经认知功能损害,并对22号染色体上儿茶酚氧位甲基转移酶(COMT)基因和脯氨酸脱氢酶(PRODH)基因的5个候选单核苷酸多态性(SNP)位点进行相关的遗传学分析。方法 采用14个神经心理测验(共29项)对235例首发精神分裂症患者(患者组)、322名未患病亲属(亲属组)和133名正常对照(正常对照组)进行有关智力、注意、记忆、言语功能和执行功能等评定,比较各组间的神经认知功能有无差异,并对上述神经认知功能测验与COMT和PRODH基因的5个候选SNP进行定量性状的传递不平衡测试。结果 (1)患者组所有测验的成绩均差于正常对照组,差异有显著性(P<0.01和P<0.05),而亲属组的记忆、注意、言语功能和执行功能界于患者与正常对照之间;(2)PRODH1 195G/A与即刻逻辑记忆测验(P=0.03)、言语流畅性测验的正确数(P=0.03)和连线测验B的犯规数(P=0.01)相关,PRODH1945G/A与数字符号测验(P:0.01)、连线测验A的错误数(P:0.02)、HANOI塔测验的总分(P=0.01)、威斯康星卡片分类测验(WCST)的总错误数(P=0.01)、WCST的非持续错误数(P:0.02)和WCST的总分类数(P=0.02)相关。结论 精神分裂症患者在记忆、注意、言语功能和执行功能等方面存在广泛的神经认知功能损害,这种损害可能是精神分裂症的遗传“
Objective The aims of the present study were to find the common neurocognitive deficits in schizophrenia and their health first-degree relatives and to explore the association between neurocognitive function and candidate single nucleotide polymorphisms ( SNPs ) of catecho1-O-methyltransferase (COMT) and proline dehydrogenase (PRODH) genes in 22q11. Methods The subjects were 235 first-episode schizophrenia patients, their 322 first-degree relatives, and 133 normal controls, and were given a series of neuropsychological tests including the information, arithmetic, digital symbol, digit span, block design, logical memory, visual memory, Stroop test, Trail Making test A and B, verbal fluency, tower of HANOI, and modified version of Wisconsin Card Sorting Tests (WCST). The differences of neurocognitive functions between schizophrenic patients, their health first-degree relatives and normal controls were compared by using multiple linear mixed model. The quantitative analysis of neurocognitive function in schizophrenia and SNPs of COMT and PRODH genes were done by using transmission disequilibrium test (TDT). Results There were general neurocognition deficits in patients comparing with normal controls. The patients' healthy relatives showed the tendency of similar deficits in memory, attention, language function and executive function. PRODH gene was associated with verbal memory, attention and executive function in schizophrenia. Conclusion There are general neurocognitive deficits in schizophrenia and the neurocognitive deficits possibly are the endophenotypes of schizophrenia. There may be linkage disequilibrium between COMT, PRODH genes in chromosome 22q11 and schizophrenia.
出处
《中华精神科杂志》
CAS
CSCD
北大核心
2004年第3期140-144,共5页
Chinese Journal of Psychiatry
基金
国家自然科学基金杰出青年基金资助项目(30125014)
四川大学青年基金项目(0040205505018)
