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

Hammer, Christiana; Kapeller, Johannesa; Endele, Maxa; Fischer, Christinea; Hebebrand, Johannesb; Hinney, Ankeb; Friedel, Susannb; Gratacòs, Mònicaf; Estivill, Xavierf g; Fichter, Manfredc e; Fernández-Aranda, Fernandoh i; Ehrlich, Stefand; Rappold, Gudruna; Niesler, Beatea

doi: 10.1097/FPC.0b013e32833132b3

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.

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aInstitute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld, Heidelberg

bDepartment of Child and Adolescent Psychiatry, University of Duisburg-Essen, Essen

cRoseneck Hospital for Behavioural Medicine, affiliated to the University of Munich (LMU), Am Roseneck, Prien am Chiemsee

dDepartment of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Charité-Universitätsmedizin Berlin, Berlin

eDepartment of Psychiatry, University of Munich (LMU), Munich, Germany

fCIBER en Epidemiología y Salud Pública (CIBERESP), and Genetic Causes of Disease Group, Genes and Disease Program Center for Genomic Regulation (CRG-UPF)

gDepartment of Health and Experimental Life Sciences, Pompeu Fabra University (UPF)

hDepartment of Psychiatry, University Hospital of Bellvitge, Barcelona, Catalonia

iCIBER Fisiopatologia Obesidad y Nutricion, Girona, Spain

Correspondence to Dr Beate Niesler, PhD, Institute of Human Genetics, University of Heidelberg, Heidelberg 69120, Germany

Tel: +49 6221 565058; fax: +49 6221 568884;


Received 13 March 2009 Accepted 25 July 2009

© 2009 Lippincott Williams & Wilkins, Inc.