biostudies-literatureUnknown100(11)Fritz NUniversitätsklinikum HeidelbergMedizinischen Fakultät Heidelberg, Universität HeidelbergIrritable bowel syndrome (IBS) is a gut-brain disorder of multifactorial origin. Evidence of disturbed serotonergic function in IBS accumulated for the 5-HT₃ receptor family. 5-HT₃Rs are encoded by HTR3 genes and control GI function, and peristalsis and secretion, in particular. Moreover, 5-HT₃R antagonists are beneficial in the treatment of diarrhea predominant IBS (IBS-D). We previously reported on functionally relevant SNPs in HTR3A c.-42C > T (rs1062613), HTR3C p.N163K (rs6766410), and HTR3E c.*76G > A (rs56109847 = rs62625044) being associated with IBS-D, and the HTR3B variant p.Y129S (rs1176744) was also described within the context of IBS. We performed a multi-center study to validate previous results and provide further evidence for the relevance ofJournal of molecular medicine (Berlin, Germany)1617-1627https://www.ebi.ac.uk/biostudies/studies/S-EPMC9592668biostudies-literatureThe serotonin receptor 3E variant is a risk factor for female IBS-D.PMC9592668Dinan TGGazouli MSayuk GDong YRaithel MSchmidt BGoebel-Stengel MNothen MMTesarz JLieb WSchmitteckert SKabisch MMadrid AMSchaefert RKennedy PJBerens SGotze DSpiller RHerzog WKeller JVicario MZheng TBeltran CHeilmann-Heimbach SFrieling THoffmann PMartinez CGauss ANiesler BRoth RBustamante MWouters MMD'Amato MMonnikes HQuigley EMMFranke AFritz NTorres VSantos JKaramanolis GAndresen VEngel FSimren MLorenzo-Bermejo JWahl VHoughton LAEstivil XBoeckxstaens GRabionet RClarke GRappold GAStein-Thoringer CCryan JFMayer EAPehl CfalseThe serotonin receptor 3E variant is a risk factor for female IBS-D.Irritable bowel syndrome (IBS) is a gut-brain disorder of multifactorial origin. Evidence of disturbed serotonergic function in IBS accumulated for the 5-HT₃ receptor family. 5-HT₃Rs are encoded by HTR3 genes and control GI function, and peristalsis and secretion, in particular. Moreover, 5-HT₃R antagonists are beneficial in the treatment of diarrhea predominant IBS (IBS-D). We previously reported on functionally relevant SNPs in HTR3A c.-42C > T (rs1062613), HTR3C p.N163K (rs6766410), and HTR3E c.*76G > A (rs56109847 = rs62625044) being associated with IBS-D, and the HTR3B variant p.Y129S (rs1176744) was also described within the context of IBS. We performed a multi-center study to validate previous results and provide further evidence for the relevance of2022-01-01T00:00:00Z2022 Nov2026-05-27T11:47:45.171Z2024-11-21T00:15:44.612ZS-EPMC95926683612146710.1007/s00109-022-02244-w