Functional variants of the serotonin receptor type 3A and B gene are associated with eating disorders

Christian Hammer, Johannes Kapeller, Max Endele, Christine Fischer, Johannes Hebebrand, Anke Hinney, Susann Friedel, Mònica Gratacòs, Xavier P. Estivill, Manfred Fichter, Fernando Fernández-Aranda, Stefan Ehrlich, Gudrun Rappold, Beate Niesler

Research output: Contribution to journalArticle

32 Citations (Scopus)


OBJECTIVE: As a key player in modulating both human physiological and behavioural functions including anxiety, perception and in particular appetite, serotonin (5-hydroxytryptamine, 5-HT) is likely to be involved in the aetiology of eating disorders. Studies showing serotonin receptor type 3 (5-HT3) receptors to mediate food intake depression (anorexic response) have triggered our interest in investigating the putative role of variants in the 5-HT3 receptor genes, HTR3A and HTR3B, in the susceptibility to anorexia nervosa (AN) and bulimia nervosa (BN). METHODS: Two hundred and sixty-five patients with AN and 91 patients with BN as well as 191 healthy controls served as a pilot study group for mutational analysis by direct sequencing. Variants showing a significant association were subsequently genotyped in an independent Spanish cohort of 78 patients with AN and 119 patients with BN as well as 331 healthy controls for replication purposes. RESULTS: In the pilot study, we found the coding HTR3B variant, p.Y129S, (rs1176744, P=0.004, odds ratio=2.06) to be associated with the restrictive subtype of AN. The association was confirmed in the Spanish study group (P?=0.034, odds ratio=2.26). CONCLUSION: Our study provides first evidence for an involvement of 5-HT3 variants in the aetiopathology of eating disorders in humans.

Original languageEnglish
Pages (from-to)790-799
Number of pages10
JournalPharmacogenetics and Genomics
Issue number10
Publication statusPublished - Oct 2009
Externally publishedYes



  • Anorexia
  • Eating disorders
  • HTR3A
  • HTR3B
  • Serotonin
  • Serotonin receptor type 3

ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Cite this

Hammer, C., Kapeller, J., Endele, M., Fischer, C., Hebebrand, J., Hinney, A., Friedel, S., Gratacòs, M., Estivill, X. P., Fichter, M., Fernández-Aranda, F., Ehrlich, S., Rappold, G., & Niesler, B. (2009). Functional variants of the serotonin receptor type 3A and B gene are associated with eating disorders. Pharmacogenetics and Genomics, 19(10), 790-799.