Mellerup E, Bennike B, Bolwig T, Dam H, Hasholt L, Jørgensen M B, Plenge P, Sørensen S A
Department of Psychiatry, Rigshospitalet, Copenhagen, Denmark.
Acta Psychiatr Scand. 2001 Mar;103(3):229-33. doi: 10.1034/j.1600-0447.2001.00173.x.
The purpose of the present study was to relate the number of platelet serotonin transporters in unipolar and bipolar patients and in control subjects to two polymorphisms in the serotonin transporter gene: a VNTR in intron 2 and a deletion/insertion in the promoter region.
Density of platelet serotonin transporters was determined by radioligand binding analysis. Genotyping was performed by PCR amplification of polymorphic regions followed by size determination of the obtained fragments.
The control subjects and the two groups of patients were similar with respect to the genotype and allele distribution belonging to the two polymorphisms in the serotonin transporter gene for. An interaction between status (control, unipolar- or bipolar patient) and VNTR genotype regarding the number of platelet serotonin transporters was observed; unipolar patients with the genotype 12/10 had more platelet serotonin transporters than bipolar patients and controls with this genotype. No association related to the polymorphism was found in the promoter region of the serotonin transporter gene.
An association was observed between the polymorphism in intron 2 of the serotonin transporter gene and the number of platelet serotonin transporters. Unipolar patients with a particular genotype had more platelet serotonin transporters than the corresponding controls and bipolar patients.
本研究旨在探究单相抑郁症患者、双相情感障碍患者及对照受试者血小板5-羟色胺转运体数量与5-羟色胺转运体基因的两个多态性之间的关系，这两个多态性分别为第2内含子中的可变数目串联重复序列（VNTR）和启动子区域的缺失/插入。
通过放射性配体结合分析测定血小板5-羟色胺转运体的密度。通过对多态性区域进行聚合酶链反应（PCR）扩增，然后对所得片段进行大小测定来进行基因分型。
对照受试者以及两组患者在5-羟色胺转运体基因的两个多态性的基因型和等位基因分布方面相似。观察到状态（对照、单相抑郁症患者或双相情感障碍患者）与VNTR基因型在血小板5-羟色胺转运体数量方面存在相互作用；基因型为12/10的单相抑郁症患者比该基因型的双相情感障碍患者和对照受试者具有更多的血小板5-羟色胺转运体。在5-羟色胺转运体基因的启动子区域未发现与该多态性相关的关联。
观察到5-羟色胺转运体基因第2内含子中的多态性与血小板5-羟色胺转运体数量之间存在关联。具有特定基因型的单相抑郁症患者比相应的对照受试者和双相情感障碍患者具有更多的血小板5-羟色胺转运体。
