Choo Mira, Hwang Jung-A, Jeon Sang Won, Oh So-Young, Yoon Ho-Kyoung, Lee Heon-Jeong, Kim Yong-Ku
Department of Psychiatry, College of Medicine, Korea University, Seoul, Republic of Korea.
Psychiatry Investig. 2015 Oct;12(4):551-8. doi: 10.4306/pi.2015.12.4.551. Epub 2015 Sep 30.
We aimed to investigate possible associations between three norepinephrine transporter gene (SLC6A2) single nucleotide polymorphisms (T182C, A3081T, and G1287A) and schizophrenia. Also, we investigated the relationships of those polymorphisms with clinical severity and characteristics of schizophrenia.
Participants were 220 schizophrenia patients in the acute phase and 167 healthy controls. The genotype, allele frequency, and haplotype of each group were analyzed for T182C, A3081T, and G1287A polymorphisms. Of the 220 schizophrenia patients, 163 patients were evaluated with the Positive and Negative Syndrome Scale (PANSS) and the Korean version of the Calgary depression scale for schizophrenia (K-CDSS) at baseline.
We found no significant differences between the schizophrenia patient group and the control group in genotype distribution or allele frequency of the three tested polymorphisms. Likewise, we could not find any significant differences in genotype or allele frequency by analyzing according to gender. In the haplotype study, no significant association emerged between specific haplotype combinations and schizophrenia. We also found no association between clinical scales (PANSS and K-CDSS) and the studied polymorphisms.
Our results suggest that the investigated polymorphisms of the NET gene are not associated with susceptibility to schizophrenia or its clinical features in a Korean population. However, this study remains significant because it is the first haplotype study to investigate associations between NET gene (SLC6A2) single nucleotide polymorphisms and schizophrenia in a Korean population. Future research with a larger sample size and more genetic markers is needed to replicate our results.
我们旨在研究三种去甲肾上腺素转运体基因(SLC6A2)单核苷酸多态性(T182C、A3081T和G1287A)与精神分裂症之间可能存在的关联。此外,我们还研究了这些多态性与精神分裂症临床严重程度及特征之间的关系。
参与者包括220例急性期精神分裂症患者和167名健康对照者。对每组的T182C、A3081T和G1287A多态性进行基因型、等位基因频率及单倍型分析。在220例精神分裂症患者中,163例患者在基线时使用阳性和阴性症状量表(PANSS)及精神分裂症卡尔加里抑郁量表韩语版(K-CDSS)进行评估。
我们发现,在三种检测的多态性的基因型分布或等位基因频率方面,精神分裂症患者组与对照组之间无显著差异。同样,按性别分析时,我们也未发现基因型或等位基因频率存在任何显著差异。在单倍型研究中,特定单倍型组合与精神分裂症之间未出现显著关联。我们还发现临床量表(PANSS和K-CDSS)与所研究的多态性之间无关联。
我们的结果表明,在韩国人群中,所研究的去甲肾上腺素转运体(NET)基因多态性与精神分裂症易感性或其临床特征无关。然而,本研究仍具有重要意义,因为它是韩国人群中首个研究NET基因(SLC6A2)单核苷酸多态性与精神分裂症之间关联的单倍型研究。需要进行更大样本量及更多遗传标记的未来研究来重复我们的结果。