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5-羟色胺受体 2A 基因 Rs6313 多态性与多症状性原发性夜间遗尿症的关联。

Rs 6313 polymorphism in 5-hydroxytryptamine receptor 2A gene association with polysymptomatic primary nocturnal enuresis.

机构信息

Department of Pediatric, China Medical University Hospital, Taichung, Taiwan.

出版信息

J Clin Lab Anal. 2010;24(6):371-5. doi: 10.1002/jcla.20386.

Abstract

BACKGROUND

Tricyclic antidepressants (TCA) were used to treat nocturnal enuresis (NE) for decades of years although their real mechanisms are unknown. Recently, some case studies demonstrated the efficacy of selective serotonin reuptake inhibitors (SSRI) in the treatment of NE. Both TCA and SSRI have similar influences on serotonin transmission. This study was aimed at evaluating whether 5-hydroxytryptamine receptor 2A (5HTR2A) gene is associated with NE.

METHODS

We analyzed rs6313 polymorphism in 5HTR2A gene of 213 Taiwanese children (116 NE cases and 97 healthy control subjects) using polymerase chain reaction-restriction fragment length polymorphism.

RESULTS

There were no significant differences when comparing the genotypes and allelic frequencies of rs6313 polymorphism in 5HTR2A gene between patients with NE and control subjects. However, when subsequently comparing 5HTR2A genotypes and allelic frequencies in NE child with different phenotypes, genotypes TT and TC appeared higher risks of polysymptomatic NE compared with CC (odds ratio (OR)=10.71, 95% confidence interval (CI)=2.66-43.12; OR=2.68, 95% CI=0.67-10.75, respectively; P=0.0002); and allele T also revealed higher frequencies of polysymptomatic NE compared with allele C (OR=3.7, 95% CI=2.01-6.79, P=0.000015).

CONCLUSIONS

This is the first study that shows the association between 5HTR2A gene polymorphisms and polysymptomatic NE. These results provide further evidence suggesting that genetic variations at 5HTR2A may influence NE treatment response.

摘要

背景

三环类抗抑郁药(TCA)已被用于治疗遗尿症(NE)数十年,尽管其确切机制尚不清楚。最近,一些病例研究表明选择性 5-羟色胺再摄取抑制剂(SSRIs)在治疗 NE 方面有效。TCA 和 SSRI 对 5-羟色胺传递均有相似影响。本研究旨在评估 5-羟色胺受体 2A(5HTR2A)基因是否与 NE 相关。

方法

我们使用聚合酶链反应-限制性片段长度多态性分析了 213 名台湾儿童(116 例 NE 病例和 97 名健康对照)中 5HTR2A 基因的 rs6313 多态性。

结果

NE 患者与对照组之间 5HTR2A 基因 rs6313 多态性的基因型和等位基因频率无显著差异。然而,当随后比较 NE 患儿不同表型的 5HTR2A 基因型和等位基因频率时,TT 和 TC 基因型出现多发性 NE 的风险高于 CC(比值比(OR)=10.71,95%置信区间(CI)=2.66-43.12;OR=2.68,95%CI=0.67-10.75,P=0.0002);等位基因 T 也显示多发性 NE 的频率高于等位基因 C(OR=3.7,95%CI=2.01-6.79,P=0.000015)。

结论

这是第一项表明 5HTR2A 基因多态性与多发性 NE 相关的研究。这些结果提供了进一步的证据,表明 5HTR2A 遗传变异可能影响 NE 的治疗反应。

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本文引用的文献

5
Imipramine for therapy resistant enuresis: a retrospective evaluation.丙咪嗪治疗难治性遗尿症:一项回顾性评估。
J Urol. 2004 Jun;171(6 Pt 2):2607-10; discussion 2609-10. doi: 10.1097/01.ju.0000110613.51078.93.
9
Nocturnal enuresis (bedwetting).夜间遗尿症(尿床)。
Curr Opin Urol. 2003 Jul;13(4):337-43. doi: 10.1097/00042307-200307000-00011.
10
Depression and incontinence.抑郁与失禁。
World J Urol. 2001 Nov;19(5):351-7. doi: 10.1007/s003450100227.

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