Genetic Analysis of Bulimia Nervosa: Methods and Sample Description

Walter H. Kaye, Bernie Devlin, Nicole Barbarich, Cynthia M. Bulik, Laura Thornton, Silviu Alin Bacanu, Manfred M. Fichter, Katherine A. Halmi, Allan S. Kaplan, Michael Strober, D. Blake Woodside, Andrew W. Bergen, Scott Crow, James Mitchell, Alessandro Rotondo, Mauro Mauri, Giovanni Cassano, Pamela Keel, Katherine Plotnicov, Christine PolliceKelly L. Klump, Lisa R. Lilenfeld, J. Kelly Ganjei, Norbert Quadflieg, Wade H. Berrettini

Research output: Contribution to journalArticlepeer-review

42 Scopus citations


Objective: Twin and family studies suggest that genetic variants contribute to the pathogenesis of bulimia nervosa (BN) and anorexia nervosa (AN). The Price Foundation has supported an international, multisite study of families with these disorders to identify these genetic variations. The current study presents the clinical characteristics of this sample as well as a description of the study methodology. Method: All probands met modified criteria for BN or bulimia nervosa with a history of AN (BAN) as defined in the 4th ed. of the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV; American Psychiatric Association, 1994). All affected relatives met DSM-IV criteria for BN, AN, BAN, or eating disorders not otherwise specified (EDNOS). Probands and affected relatives were assessed diagnostically using both trained-rater and self-report assessments. DNA samples were collected from probands, affected relatives, and available biologic parents. Results: Assessments were obtained from 163 BN probands and 165 BAN probands. Overall, there were 365 relative pairs available for linkage analysis. Of the affected relatives of BN probands, 62 were diagnosed as BN (34.8%), 49 as BAN (27.5%), 35 as AN (19.7%), and 32 as EDNOS (18.0%). For the relatives of BAN probands, 42 were diagnosed as BN (22.5%), 67 as BAN (35.8%), 48 as AN (25.7%), and 30 as EDNOS (16.0%). Discussion: This study represents the largest genetic study of eating disorders to date. Clinical data indicate that although there are a large number of individuals with BN disorders, a range of eating pathology is represented in the sample, allowing for the examination of several different phenotypes in molecular genetic analyses.

Original languageEnglish (US)
Pages (from-to)556-570
Number of pages15
JournalInternational Journal of Eating Disorders
Issue number4
StatePublished - May 2004


  • Affected relative pairs
  • Anorexia nervosa
  • Bulimia nervosa
  • Eating disorders
  • Genetics
  • Linkage analysis


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