Child Psychiatry Branch, National Institutes of Health, National Institute of Mental Health, Bethesda, Maryland, USA. ; MRC Social, Genetic and Developmental Psychiatry Centre, and Department of Psychosis Studies, Institute of Psychiatry, King's College London, UK.
Aging Dis. 2012 Aug;3(4):291-300. Epub 2012 Jun 30.
The serotonin receptor 2A gene polymorphism is associated with attentional processes in schizophrenia. However, the specificity of the underlying cognitive constructs affected within this domain requires further elucidation. We carried out the first investigation of whether the TC/CC genotype of the 5-HT2A T102C polymorphism confers impairments in early-onset schizophrenia (EOS; onset of psychotic symptoms before age 18) but not in healthy siblings, the putative mechanism being that serotonergic inhibitory modulation of prefrontal dopamine is impaired in the presence of the C allele which in turn is a genetic risk marker for schizophrenia. Fifty-three EOS outpatients and 46 of their non-psychotic siblings (no current Axis I diagnoses) were genotyped for 5-HT2A T102C polymorphism. The Positive and Negative Syndrome Scale (PANSS) was used to assess symptomatology severity. Diagnostic classification was based on the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Structured Clinical Interview. The Degraded-Stimulus Continuous Performance Test (DS-CPT) was used to measure sustained focused attention. As predicted, EOS probands produced fewer correct responses (hit rate) and demonstrated poorer perceptual sensitivity compared with the healthy siblings. The C allele at codon 102 was associated with fewer correct responses compared with the TT genotype. There was no significant relationship between the polymorphism and clinical parameters, as measured using the PANSS. Our findings suggest that the C allele may be related to sustained attentional impairments in EOS.
5-羟色胺 2A 受体基因多态性与精神分裂症的注意力过程有关。然而,该领域受影响的潜在认知结构的特异性需要进一步阐明。我们首次研究了 5-羟色胺 2A T102C 多态性的 TC/CC 基因型是否会导致早发性精神分裂症(EOS;发病年龄在 18 岁之前)而不是健康的兄弟姐妹出现损伤,其潜在机制是在 C 等位基因存在的情况下,5-羟色胺能抑制前额叶多巴胺的调节,而 C 等位基因是精神分裂症的遗传风险标志物。对 53 名 EOS 门诊患者和 46 名无精神病症状的兄弟姐妹(无当前轴 I 诊断)进行了 5-羟色胺 2A T102C 多态性基因分型。使用阳性和阴性综合征量表(PANSS)评估症状严重程度。诊断分类基于精神障碍诊断和统计手册,第四版,结构化临床访谈。使用受损刺激连续表现测试(DS-CPT)来衡量持续的专注注意力。正如预测的那样,EOS 患者的正确反应(击中率)较少,与健康兄弟姐妹相比,感知敏感性较差。与 TT 基因型相比,102 密码子的 C 等位基因与较少的正确反应相关。该多态性与 PANSS 测量的临床参数之间没有显著关系。我们的研究结果表明,C 等位基因可能与 EOS 的持续注意力损伤有关。