Maria Kotrotsou, Charalampos Touloumis, Vassilakopoulou Dido, Stavroula Syriou, Vasiliki Kalampoki, Nikolaos Drakoulis
Department of Pharmaceutical Technology, School of Pharmacy, National and Kapodistrian University of Athens, Panepistimiopolis, 15771 Athens, Greece.
ISRN Psychiatry. 2012 Nov 1;2012:651613. doi: 10.5402/2012/651613. Print 2012.
Schizophrenia, a severe psychiatric condition, is characterized by disturbances of cognition, emotion, and social functioning. The disease affects almost 1% of world population. Recent studies evaluating the role of catechol-O-methyltransferase enzyme (COMT) polymorphisms in the pathogenesis of schizophrenia have resulted in ambiguous findings. The current study examined the association of schizophrenia with three COMT polymorphisms, namely, rs737865, rs4680, and rs165599 in a Greek population. There was no significant association between schizophrenia and any of the three SNPs examined. However, haplotype analysis showed that cases have higher frequency of the T-A-A haplotype, and participants with that haplotype were at increased risk for developing schizophrenia (OR = 1.52; CL : 1.12-2.08; P = 0.008). Furthermore, patients with schizophrenia displayed an excess of TC/AA/AA and the TT/AA/GA genotypes. Similarly a protective effect of TT/GG/GG and TT/GA/GG was suggested by our results.
精神分裂症是一种严重的精神疾病，其特征为认知、情感和社会功能障碍。该疾病影响着近1%的世界人口。最近评估儿茶酚-O-甲基转移酶（COMT）基因多态性在精神分裂症发病机制中作用的研究结果并不明确。本研究在希腊人群中检测了精神分裂症与三种COMT基因多态性（即rs737865、rs4680和rs165599）之间的关联。精神分裂症与所检测的三种单核苷酸多态性（SNP）中的任何一种均无显著关联。然而，单倍型分析表明，病例组中T-A-A单倍型的频率较高，具有该单倍型的参与者患精神分裂症的风险增加（比值比=1.52；可信区间：1.12 - 2.08；P = 0.008）。此外，精神分裂症患者中TC/AA/AA和TT/AA/GA基因型过多。同样，我们的结果提示TT/GG/GG和TT/GA/GG具有保护作用。
