In this study, we explored the potential association between estrogen receptor beta (ERbeta) and disease in a group of bulimic women. Eating disorders are much more common in females than in males, suggesting a possible role for female sex hormone signalling in the pathogenesis of these diseases. Furthermore, estrogen has been implicated in appetite regulation. The occurrence of menstrual disturbances is also increased in bulimic women. We studied 76 bulimic women and 60 controls, and found an association between two common polymorphisms in the ERbeta gene with disease in this group of bulimic women. More detailed characterisation of the ERbeta gene identified a novel variant changing the primary structure of ERbeta protein in one bulimic patient. An initial functional characterization of this variant did not reveal any differences compared to the wild-type protein. Our findings point towards a possible role of ERbeta and/or neighboring genes in the etiology of disease in bulimic patients.