Serotonin Receptors Polymorphisms Are Associated With Cyclic Vomiting Syndrome.

IF 2.9 3区医学 Q1 CLINICAL NEUROLOGY Neurogastroenterology and Motility Pub Date : 2025-05-01 Epub Date: 2025-01-30 DOI:10.1111/nmo.15012

Agata Binienda, Maciej Salaga, Milan Patel, Jakub Włodarczyk, Jakub Fichna, Thangam Venkatesan

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Abstract

Background: Cyclic vomiting syndrome (CVS) is a disorder characterized by sudden, recurrent episodes of severe nausea and vomiting. The pathophysiology of CVS is not known but genetic factors that regulate emetic neurocircuitry have been proposed. The aim of this study was to investigate whether different variations in genes encoding serotonin receptors (HTRs) are associated with susceptibility to CVS and/or CVS symptoms.

Methods: This case-control study included 70 patients with CVS:16 male and 54 female, and 2504 healthy controls from the 1000 Genomes Project database. Single-nucleotide polymorphisms (SNPs) in genes encoding serotonin receptors (HTR1B, HTR1D, HTR3B and HTR3C) and correlations between SNPs and the symptoms of CVS were determined.

Key results: Our study discovered that patients with GG, AA and GG genotypes of HTR1B/D rs6296, rs6298 and rs6300, respectively, as well as the CC genotype of HTR3B rs176744 are associated with an increased risk (p < 0.001), whereas allele C in rs3788987 (HTR3B, p < 0.01) and allele A in rs6766410 (HTR3C, p < 0.05) were associated with a decreased risk of CVS. In addition, statistical analysis indicated that CVS patients with GA or AA genotypes of HTR1D rs676643 gene have a seven-fold increase in risk of depression compared to patients with GG genotype (p < 0.01).

Conclusions and inferences: Our study revealed for the first time that variations in 5-HTR genes may contribute to CVS susceptibility and CVS-related symptoms.

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血清素受体多态性与周期性呕吐综合征相关

背景：周期性呕吐综合征（CVS）是一种以突然、反复发作的严重恶心和呕吐为特征的疾病。CVS的病理生理尚不清楚，但已经提出了调节呕吐神经回路的遗传因素。本研究的目的是研究编码5 -羟色胺受体（HTRs）基因的不同变异是否与CVS易感性和/或CVS症状相关。方法：本病例-对照研究纳入了70例CVS患者：男性16例，女性54例，以及来自1000基因组计划数据库的2504名健康对照。测定5 -羟色胺受体（HTR1B、HTR1D、HTR3B和HTR3C）编码基因的单核苷酸多态性（snp）及其与CVS症状的相关性。关键结果：本研究发现HTR1B/D rs6296、rs6298、rs6300基因型分别为GG、AA、GG的患者以及HTR3B rs176744基因型的患者与CVS易感性和CVS相关症状增加相关(p)。结论与推断：本研究首次揭示5-HTR基因的变异可能与CVS易感性和CVS相关症状有关。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Neurogastroenterology and Motility 医学-临床神经学

CiteScore

7.80

自引率

8.60%

发文量

178

审稿时长

3-6 weeks

期刊介绍： Neurogastroenterology & Motility (NMO) is the official Journal of the European Society of Neurogastroenterology & Motility (ESNM) and the American Neurogastroenterology and Motility Society (ANMS). It is edited by James Galligan, Albert Bredenoord, and Stephen Vanner. The editorial and peer review process is independent of the societies affiliated to the journal and publisher: Neither the ANMS, the ESNM or the Publisher have editorial decision-making power. Whenever these are relevant to the content being considered or published, the editors, journal management committee and editorial board declare their interests and affiliations.