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血清素候选基因与强迫症特定表型之间的关联。

Association between serotonergic candidate genes and specific phenotypes of obsessive compulsive disorder.

作者信息

Denys Damiaan, Van Nieuwerburgh Filip, Deforce Dieter, Westenberg Herman G M

机构信息

Rudolf Magnus Institute of Neuroscience, Department of Psychiatry University Medical Center Utrecht, Utrecht, The Netherlands.

出版信息

J Affect Disord. 2006 Mar;91(1):39-44. doi: 10.1016/j.jad.2005.12.011. Epub 2006 Jan 27.

Abstract

BACKGROUND

The successful use of serotonin reuptake inhibitors (SRIs) in obsessive-compulsive disorder (OCD) has led to the hypothesis that serotonin plays a pivotal role in the pathogenesis of OCD. The purpose of the present study was to investigate the role of the serotonin transporter (5-HTT) and serotonin 5-HT1B and 5-HT2A receptor genes in OCD.

METHOD

The distribution of polymorphic variants was analyzed in 156 OCD cases and 134 control individuals by means of case-control association studies. Potential relevant OCD phenotypes founded on age of onset, positive family history for OCD, clinical subtypes, comorbidity and symptom severity were stratified according to 5-HTT, 5-HT1B and 5-HT2A genotypes.

RESULTS

Patients did not show significant differences in genotype distribution and allele frequency for polymorphisms investigated relative to controls. However, taking in account OCD phenotypes, we found indication towards an association of the 5-HTTLPR S-allele with female OCD patients, and the 5-HT2A G-allele and GG genotype with patients with a positive family history of OCD and an early onset of disease.

CONCLUSIONS

Our data yields interesting preliminary results as regards the genetic underpinnings of OCD phenotypes that warrant further discussion and investigation.

摘要

背景

血清素再摄取抑制剂(SRIs)在强迫症(OCD)治疗中的成功应用引发了一种假说,即血清素在强迫症的发病机制中起关键作用。本研究的目的是探讨血清素转运体(5-HTT)以及血清素5-HT1B和5-HT2A受体基因在强迫症中的作用。

方法

通过病例对照关联研究分析了156例强迫症患者和134名对照个体中多态性变体的分布情况。根据5-HTT、5-HT1B和5-HT2A基因型,对基于发病年龄、强迫症家族史阳性、临床亚型、共病情况和症状严重程度确定的潜在相关强迫症表型进行分层。

结果

与对照组相比,患者在所研究多态性的基因型分布和等位基因频率方面未显示出显著差异。然而,考虑到强迫症表型,我们发现5-HTTLPR S等位基因与女性强迫症患者有关联,5-HT2A G等位基因和GG基因型与有强迫症家族史且发病较早的患者有关联。

结论

我们的数据就强迫症表型的遗传基础产生了有趣的初步结果,值得进一步讨论和研究。

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