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

30 Citations (Scopus)

Abstract

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
Volume19
Issue number10
DOIs
Publication statusPublished - Oct 2009
Externally publishedYes

Fingerprint

Serotonin Receptors
Anorexia Nervosa
Receptors, Serotonin, 5-HT3
Bulimia Nervosa
Genes
Serotonin
Odds Ratio
Appetite
Anxiety
Eating
Depression
Feeding and Eating Disorders

Keywords

  • 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., ... 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. https://doi.org/10.1097/FPC.0b013e32833132b3

Functional variants of the serotonin receptor type 3A and B gene are associated with eating disorders. / Hammer, Christian; Kapeller, Johannes; Endele, Max; Fischer, Christine; Hebebrand, Johannes; Hinney, Anke; Friedel, Susann; Gratacòs, Mònica; Estivill, Xavier P.; Fichter, Manfred; Fernández-Aranda, Fernando; Ehrlich, Stefan; Rappold, Gudrun; Niesler, Beate.

In: Pharmacogenetics and Genomics, Vol. 19, No. 10, 10.2009, p. 790-799.

Research output: Contribution to journalArticle

Hammer, C, Kapeller, J, Endele, M, Fischer, C, Hebebrand, J, Hinney, A, Friedel, S, Gratacòs, M, Estivill, XP, 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, vol. 19, no. 10, pp. 790-799. https://doi.org/10.1097/FPC.0b013e32833132b3
Hammer, Christian ; Kapeller, Johannes ; Endele, Max ; Fischer, Christine ; Hebebrand, Johannes ; Hinney, Anke ; Friedel, Susann ; Gratacòs, Mònica ; Estivill, Xavier P. ; Fichter, Manfred ; Fernández-Aranda, Fernando ; Ehrlich, Stefan ; Rappold, Gudrun ; Niesler, Beate. / Functional variants of the serotonin receptor type 3A and B gene are associated with eating disorders. In: Pharmacogenetics and Genomics. 2009 ; Vol. 19, No. 10. pp. 790-799.
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