The Human Serotonin Type 3 Receptor Gene (HTR3A‐E) Allelic Variant Database. Issue 2 (9th November 2016)

• Record Type: Journal Article
• Authors: Celli, Jacopo; Rappold, Gudrun; Niesler, Beate
• Is Part Of: Human mutation. Volume 38:Issue 2(2017)
• Page Start: 137
• Page End: 147
• Publication Date: 2016-11-09
• Subjects: serotonin type 3 receptor -- serotonin -- variant database -- complex disorder -- pharmacogenetics -- neurogastroenterology -- psychiatry; Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.23136
• Languages: English
• ISSNs: 1059-7794

Abstract

Abstract : Serotonin type 3 (5‐HT3 ) receptors are formed by five subunits encoded by the genes HTR3A, HTR3B, HTR3C, HTR3D and HTR3E . Different receptor subtypes are involved in nausea and vomiting, differential pharmacoresponse and contribute to various neurogastroenterologic and psychiatric disorders. We have structured the current knowledge in the first 5‐HT3 receptor database for scientists and clinicians as central source of information. ABSTRACT: Serotonin type 3 (5‐HT3 ) receptors are ligand‐gated ion channels formed by five subunits (5‐HT3A‐E), which are encoded by the HTR3A, HTR3B, HTR3C, HTR3D, and HTR3E genes. Functional receptors are pentameric complexes of diverse composition. Different receptor subtypes confer a predisposition to nausea and vomiting during chemotherapy, pregnancy, and following surgery. In addition, different subtypes contribute to neurogastroenterologic disorders such irritable bowel syndrome (IBS) and eating disorders as well as comorbid psychiatric conditions. 5‐HT3 receptor antagonists are established treatments for emesis and IBS and are beneficial in the treatment of psychiatric diseases. Several case–control and pharmacogenetic studies have demonstrated an association between HTR3 variants and psychiatric and neurogastroenterologic phenotypes. Recently, their potential as predictors of nausea and vomiting and treatment of psychiatric disorders became evident. This information is now available in the serotonin receptor 3 HTR3 gene allelic variant database (www.htr3.uni-hd.de ), which contains five sub‐databases, one for each of the five different serotonin receptor genes HTR3A ‐ E . Information on HTR3 variants, their functional relevance, associated phenotypes, and pharmacogenetic data such as drug response and side effects are available. This central information pool should help clinicians as well as scientists to evaluate their findings and to use the relevant information for subsequent genotype–phenotype correlation studies and pharmacogenetic approaches.