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血清素转运体基因与双相情感障碍风险:西班牙人群中的一项关联研究

Serotonin transporter gene and risk for bipolar affective disorder: an association study in Spanish population.

作者信息

Gutiérrez B, Arranz M J, Collier D A, Vallès V, Guillamat R, Bertranpetit J, Murray R M, Fãnás L

机构信息

Unitat d'Antropologia, Facultat de Biologia, Universitat de Barcelona, Diagonal, Spain.

出版信息

Biol Psychiatry. 1998 Jun 1;43(11):843-7. doi: 10.1016/s0006-3223(97)00540-4.

Abstract

BACKGROUND

The serotonin transporter (5-HTT) is an important candidate gene for the genetic transmission of manic depressive illness. Many studies of patients with affective disorders have found abnormalities in serotonin metabolism and dysregulation of the transporter itself. In the present study, we hypothesize that genetic variation in the 5-HTT gene (17q11.1-17q12) may have an effect in the etiology of manic depression.

METHODS

To test this hypothesis, we analyzed allele, genotype, and haplotype frequencies of two polymorphisms recently described in the 5-HTT gene (a variable number of tandem repeats in intron 2 and a deletion/insertion polymorphism in the transcriptional control region) in a sample of 88 patients with manic-depressive illness and 113 controls. Cases and controls were matched for ethnic and geographic origin.

RESULTS

No associations were found between any of these polymorphisms, tested individually or as haplotypes, and manic depression. Moreover, the genetic analysis by sex, presence/absence of psychiatric family history, and age of onset did not reveal significant differences in allele or genotype distributions.

CONCLUSIONS

Our results suggest that the genetic variability of the 5-HTT gene is not a major risk factor for manic depression.

摘要

背景

血清素转运体(5-HTT)是躁郁症遗传传递的一个重要候选基因。许多针对情感障碍患者的研究发现血清素代谢存在异常,且转运体本身调节失调。在本研究中,我们假设5-HTT基因(17q11.1 - 17q12)的遗传变异可能在躁郁症的病因学中发挥作用。

方法

为验证这一假设,我们在88例躁郁症患者和113例对照样本中分析了5-HTT基因中最近描述的两种多态性的等位基因、基因型和单倍型频率(内含子2中的可变串联重复序列以及转录控制区的缺失/插入多态性)。病例和对照在种族和地理来源上进行了匹配。

结果

这些多态性中的任何一种,无论是单独检测还是作为单倍型检测,均未发现与躁郁症存在关联。此外,按性别、有无精神疾病家族史以及发病年龄进行的遗传分析,在等位基因或基因型分布上未显示出显著差异。

结论

我们的结果表明,5-HTT基因的遗传变异性不是躁郁症的主要风险因素。

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