Uçok Alp, Alpsan Hale, Cakir Sibel, Saruhan-Direskeneli Güher
Department of Psychiatry, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Am J Med Genet B Neuropsychiatr Genet. 2007 Jul 5;144B(5):704-7. doi: 10.1002/ajmg.b.30463.
The aim of this study was to investigate the association between the T102C polymorphism on the 5HT2A gene and cognitive function as well as clinical manifestations in patients with schizophrenia. Eighty-two outpatients with schizophrenia participated in this study. The Brief Psychiatric Rating Scale (BPRS) was used to assess the severity of each patient's symptoms. In order to evaluate their short-term attention capacity, a Digit Span Test was used. The Continuous Performance Test (CPT) was used to test the sustained attention span of each of the subjects. Cognitive flexibility was measured with the Wisconsin Card Sorting Test (WCST). The polymorphism of the 5-HT2A gene at codon 102 (T/C) was genotyped by sequence specific polymerase chain reaction. The T allele at codon 102 correlated with a lower hit rate and more commission errors in the CPT and patients with the heterogeneous genotype (TC) had more commission errors than those who were of homogeneous type (CC or TT). Patients with the TC genotype also had significantly fewer correct responses in the WCST compared to those who were type CC or TT. No relationship was found to exist between the C allele and cognitive variables. There was also no relationship established between the codon 102 polymorphism and clinical parameters. These findings suggest that the TC genotype might be related to certain cognitive impairments in patients with schizophrenia.
本研究旨在探讨5HT2A基因上T102C多态性与精神分裂症患者认知功能及临床表现之间的关联。82例精神分裂症门诊患者参与了本研究。采用简明精神病评定量表(BPRS)评估每位患者的症状严重程度。为评估其短期注意力,使用了数字广度测试。采用连续作业测试(CPT)检测每个受试者的持续注意力广度。用威斯康星卡片分类测验(WCST)测量认知灵活性。通过序列特异性聚合酶链反应对5-HT2A基因第102密码子(T/C)的多态性进行基因分型。第102密码子的T等位基因与CPT中的较低命中率和较多的错误正答相关,并且杂合基因型(TC)患者比纯合型(CC或TT)患者有更多的错误正答。与CC型或TT型患者相比,TC基因型患者在WCST中的正确反应也显著减少。未发现C等位基因与认知变量之间存在关联。第102密码子多态性与临床参数之间也未建立关联。这些发现表明,TC基因型可能与精神分裂症患者的某些认知障碍有关。