Study protocol of comprehensive risk evaluation for anorexia nervosa in twins (CREAT): a study of discordant monozygotic
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STUDY PROTOCOL
Open Access
Study protocol of comprehensive risk evaluation for anorexia nervosa in twins (CREAT): a study of discordant monozygotic twins with anorexia nervosa Maria Seidel1,2†, Stefan Ehrlich1*†, Lauren Breithaupt3,4, Elisabeth Welch5,6, Camilla Wiklund2, Christopher Hübel2,7,8,9, Laura M. Thornton10, Androula Savva2, Bengt T. Fundin2, Jessica Pege2, Annelie Billger2, Afrouz Abbaspour2, Martin Schaefer10, Ilka Boehm1, Johan Zvrskovec2,7, Emilie Vangsgaard Rosager11, Katharina Collin Hasselbalch11, Virpi Leppä2, Magnus Sjögren11,12, Ricard Nergårdh13, Jamie D. Feusner14, Ata Ghaderi7,10 and Cynthia M. Bulik2,15,16*
Abstract Background: Anorexia nervosa (AN) is a severe disorder, for which genetic evidence suggests psychiatric as well as metabolic origins. AN has high somatic and psychiatric comorbidities, broad impact on quality of life, and elevated mortality. Risk factor studies of AN have focused on differences between acutely ill and recovered individuals. Such comparisons often yield ambiguous conclusions, as alterations could reflect different effects depending on the comparison. Whereas differences found in acutely ill patients could reflect state effects that are due to acute starvation or acute disease-specific factors, they could also reflect underlying traits. Observations in recovered individuals could reflect either an underlying trait or a “scar” due to lasting effects of sustained undernutrition and illness. The co-twin control design (i.e., monozygotic [MZ] twins who are discordant for AN and MZ concordant control twin pairs) affords at least partial disambiguation of these effects. Methods: Comprehensive Risk Evaluation for Anorexia nervosa in Twins (CREAT) will be the largest and most comprehensive investigation of twins who are discordant for AN to date. CREAT utilizes a co-twin control design that includes endocrinological, neurocognitive, neuroimaging, genomic, and multi-omic approaches coupled with an experimental component that explores the impact of an overnight fast on most measured parameters. (Continued on next page)
* Correspondence: [email protected]; [email protected] † Maria Seidel and Stefan Ehrlich are joint first authors. 1 Division of Psychological and Social Medicine and Developmental Neurosciences, Faculty of Medicine, Technische Universität Dresden, Fetscherstraße 74, 01307 Dresden, Germany 2 Department of Medical Epidemiology and Biostatistics, Karolinska Institutetet, Nobels väg 12A, 17165 Stockholm, Solna, Sweden Full list of author information is available at the end of the article © The Author(s). 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the
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