强迫症与血清素转运体基因内含子2中可变数目的串联重复多态性之间的关联。
Association between obsessive-compulsive disorder and a variable number of tandem repeats polymorphism in intron 2 of the serotonin transporter gene.
作者信息
Baca-Garcia Enrique, Vaquero-Lorenzo Concepcion, Diaz-Hernandez Montserrat, Rodriguez-Salgado Beatriz, Dolengevich-Segal Helen, Arrojo-Romero Manuel, Botillo-Martin Carlota, Ceverino Antonio, Piqueras Jose Fernandez, Perez-Rodriguez M Mercedes, Saiz-Ruiz Jeronimo
机构信息
Department of Psychiatry, Fundacion Jimenez Diaz Hospital, Avenida Reyes Catolicos 2, 28040, Madrid, Spain.
出版信息
Prog Neuropsychopharmacol Biol Psychiatry. 2007 Mar 30;31(2):416-20. doi: 10.1016/j.pnpbp.2006.10.016. Epub 2006 Dec 13.
BACKGROUND
Pharmacological studies indicate a dysregulation of the serotonergic system in obsessive-compulsive disorder (OCD). A variable number tandem repeats (VNTR) polymorphism with three alleles (Stin2.9, Stin2.10, Stin2.12) has been described in intron 2 of the serotonin transporter (5-HTT) gene. This polymorphism has been associated with unipolar depression, bipolar disorder, schizophrenia, and anxiety disorders including OCD.
METHODS
The association between OCD and the polymorphism is examined in 97 OCD patients, 578 psychiatric controls and 406 healthy controls, all Spanish Caucasians.
RESULTS
Genotype frequencies for the polymorphism were significantly different in OCD patients, psychiatric patients and controls. There was a significant excess of 12/12 and 12/10 genotypes in OCD patients compared to psychiatric patients and controls.
CONCLUSIONS
Our results indicate a possible association between the Stin2.12 allele of the VNTR polymorphism and OCD.
背景
药理学研究表明，强迫症（OCD）患者存在血清素能系统失调。血清素转运体（5-HTT）基因内含子2中存在一种具有三个等位基因（Stin2.9、Stin2.10、Stin2.12）的可变数目串联重复序列（VNTR）多态性。这种多态性与单相抑郁症、双相情感障碍、精神分裂症以及包括强迫症在内的焦虑症有关。
方法
对97名强迫症患者、578名精神科对照者和406名健康对照者（均为西班牙白种人）进行研究，以检测强迫症与该多态性之间的关联。
结果
强迫症患者、精神科患者和对照者中该多态性的基因型频率存在显著差异。与精神科患者和对照者相比，强迫症患者中12/12和12/10基因型显著过量。
结论
我们的结果表明，VNTR多态性的Stin2.12等位基因与强迫症之间可能存在关联。
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