Culej Jelena, Štefanović Mario, Ćelap Ivana, Nikolac Nora, Karlović Dalibor
Department of Transfusion and Hemostasis - Clinic for Tumors, Medical School University Hospital Sestre Milosrdnice, Ilica 197, 10000, Zagreb, Croatia,
Mol Biol Rep. 2015 Feb;42(2):553-8. doi: 10.1007/s11033-014-3800-7. Epub 2014 Nov 6.
Serotonin transporter polymorphism (5-HTTLPR) is a well-studied polymorphism in psychiatric research. The function of serotonin transporter is to control neural stimulation and maintain homeostasis of serotonin in other cells like platelets and enterochromaffin cells. Considering serotonin function in human behavior, and the role of serotonin transporter, 5-HTTLPR has been associated with depression related disorders, anxiety related personality traits, and adverse response to psychotherapy. However, many studies failed to replicate the association of 5-HTTLPR polymorphism with mentioned disorders. The aim of our study was to assess genotype frequencies in Croatian physically and psychologically healthy population and compare our results with previously published data. Genotype distribution in our research was similar to previous studies on Caucasian population regardless of inclusion criteria. Genotype distribution was as follows: LL 38 %; LS 45 %; SS 17 % and allele frequencies for L and S allele were 61 and 39 %, respectively. Obtained results were in an agreement with the Hardy-Weinberg equilibrium. Comparing inclusion criteria from different studies, we noticed a difference in population selection from one study to another. Increased possibility for selection bias, population stratification and complexity of psychiatric disorders might present a source of possible errors in genetic association studies.
血清素转运体基因多态性(5-HTTLPR)是精神病学研究中一个经过充分研究的多态性。血清素转运体的功能是控制神经刺激并维持血清素在血小板和肠嗜铬细胞等其他细胞中的稳态。考虑到血清素在人类行为中的作用以及血清素转运体的作用,5-HTTLPR与抑郁症相关疾病、焦虑相关人格特质以及心理治疗的不良反应有关。然而,许多研究未能重复5-HTTLPR基因多态性与上述疾病的关联。我们研究的目的是评估克罗地亚身心健康人群的基因型频率,并将我们的结果与先前发表的数据进行比较。无论纳入标准如何,我们研究中的基因型分布与先前对高加索人群的研究相似。基因型分布如下:LL占38%;LS占45%;SS占17%,L和S等位基因的频率分别为61%和39%。获得的结果符合哈迪-温伯格平衡。比较不同研究的纳入标准,我们注意到从一项研究到另一项研究在人群选择上存在差异。选择偏倚、人群分层增加的可能性以及精神疾病的复杂性可能是基因关联研究中可能出现错误的来源。