Department of Psychiatry, Bolu İzzet Baysal Medical School, Bolu, Turkey.
Department of Psychiatry, University of Istanbul, Cerrahpaşa Medical School, Istanbul, Turkey.
Indian J Psychiatry. 2014 Oct;56(4):359-64. doi: 10.4103/0019-5545.146528.
Previous studies have shown an association between the T102C polymorphism of the serotonin-2A receptor gene and schizophrenia. In addition, an association of this polymorphism with clinical phenotypes in schizophrenia such as treatment response and cognitive impairment has been observed.
In this case-control study conducted in Turkish Caucasians, we compared T102C polymorphism genotype and allele frequencies in 76 schizophrenic patients and 165 healthy controls. We also investigated interaction of this polymorphism with clinical and cognitive variables in patients.
No significant difference was observed in the distribution of the three genotypes (T/T, T/C and C/C) and in the allele frequencies in controls and patients with schizophrenia. No evidence of association was detected at various clinical phenotypes including symptom severity, suicidality, treatment response, age of disease onset, number of hospitalizations and history of violence (in co-dominant, dominant, or recessive models). However, as compared to the C/C genotype, patients with 1 or 2 copies of the T allele were characterized by better stroop test performances and less "motor coordination" soft neurological signs.
Further research is needed to elucidate the impact of T102C polymorphism on neurocognitive functions in both healthy and patient populations.
先前的研究表明，5-羟色胺 2A 受体基因的 T102C 多态性与精神分裂症之间存在关联。此外，这种多态性与精神分裂症的临床表型（如治疗反应和认知障碍）之间存在关联。
在这项在土耳其白种人中进行的病例对照研究中，我们比较了 76 名精神分裂症患者和 165 名健康对照者的 T102C 多态性基因型和等位基因频率。我们还研究了这种多态性与患者临床和认知变量的相互作用。
在对照组和精神分裂症患者中，三种基因型（T/T、T/C 和 C/C）的分布和等位基因频率均无显著差异。在包括症状严重程度、自杀意念、治疗反应、发病年龄、住院次数和暴力史在内的各种临床表型中，均未发现关联证据（在共显性、显性或隐性模型中）。然而，与 C/C 基因型相比，携带 1 或 2 个 T 等位基因的患者斯特鲁普测试表现更好，且“运动协调”软神经体征更少。
需要进一步研究来阐明 T102C 多态性对健康人群和患者人群的神经认知功能的影响。
