Felten Andrea, Plieger Thomas, Reuter Martin
Department of Personality and Biological Psychology, Laboratory of Neurogenetics, University of Bonn, Bonn, Germany.
J Mood Anxiety Disord. 2023 Oct 7;4:100031. doi: 10.1016/j.xjmad.2023.100031. eCollection 2023 Dec.
Polymorphisms of the serotonergic system are amongst the most commonly investigated genetic variants with respect to anxiety-related personality traits and affective disorders. Mostly the prominent 5-HTTLPR, a functional VNTR in the 5-HTT promoter region, is intensively analysed but effect sizes in meta-analyses are small and results are inconsistent. We reinvestigated the association of 5-HTTLPR with harm avoidance (HA) and neuroticism taking another functional 5-HTT-VNTR (STin2) into account, as both VNTRs have transcription regulating properties and research points to combinatorial effects on transcription efficacy. N = 2969 participants, among them 447 inpatients suffering from affective disorders, were genotyped and filled in the TCI, NEO-FFI personality inventories besides the CLEq measuring the extent of experienced stressful life events. Significant main effects for the 5-HTTLPR with inpatients carrying the L+ allele having lower HA scores as well as for the STin2 with healthy controls carrying at least one STin2.12R allele having lower neuroticism scores were observed. Besides no gene-interaction occurred. However, specific haplotype effects were observed in healthy participants as well as in the total sample. More specifically, the 12/L variant was associated with significant lower HA and neuroticism scores. Results highlight the multifactorial interplay of 5-HTT genetic variants and the use of haplotypes in association studies on anxiety-related personality traits with impact on affective disorders.
就焦虑相关人格特质和情感障碍而言,血清素能系统的多态性是最常被研究的基因变异之一。大多情况下,人们会深入分析5-HTTLPR这一突出的功能性可变数目串联重复序列(VNTR),它位于5-羟色胺转运体(5-HTT)启动子区域,但荟萃分析中的效应量较小且结果不一致。我们重新研究了5-HTTLPR与回避伤害(HA)及神经质的关联,并考虑了另一个功能性5-HTT-VNTR(STin2),因为这两个VNTR都具有转录调节特性,且研究表明它们对转录效率有组合效应。对2969名参与者进行了基因分型,其中包括447名患有情感障碍的住院患者,除了填写测量经历的应激性生活事件程度的CLEq量表外,他们还填写了TCI、NEO-FFI人格量表。观察到5-HTTLPR对携带L +等位基因的住院患者有显著的主效应,这些患者的HA得分较低;STin2对至少携带一个STin2.12R等位基因的健康对照者有显著的主效应,这些对照者的神经质得分较低。此外,未发现基因相互作用。然而,在健康参与者和总样本中都观察到了特定的单倍型效应。更具体地说,12/L变异与显著较低 的HA和神经质得分相关。结果突出了5-HTT基因变异的多因素相互作用以及单倍型在焦虑相关人格特质关联研究中的应用,这些特质对情感障碍有影响。