Study protocol of comprehensive risk evaluation for anorexia nervosa in twins (CREAT): a study of discordant monozygotic twins with anorexia nervosa

BMC Psychiatry

Elisabeth Welch¹  Emilie Vangsgaard Rosager²  Katharina Collin Hasselbalch²  Magnus Sjögren³  Laura M. Thornton⁴  Martin Schaefer⁴  Afrouz Abbaspour⁵  Camilla Wiklund⁵  Virpi Leppä⁵  Jessica Pege⁵  Annelie Billger⁵  Bengt T. Fundin⁵  Androula Savva⁵  Cynthia M. Bulik⁶  Johan Zvrskovec⁷  Christopher Hübel⁸  Jamie D. Feusner⁹  Lauren Breithaupt^1,10  Ricard Nergårdh^1,11  Ilka Boehm^1,12  Stefan Ehrlich^1,12  Maria Seidel^1,13  Ata Ghaderi^1,14 

[1] Centre for Psychiatry Research, Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden;Stockholm Health Care Services, Region Stockholm, Stockholm Centre for Eating Disorders, Stockholm, Sweden;Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark;Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark;Eating Disorder Research Unit, Mental Health Center Ballerup, Ballerup, Denmark;Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden;Department of Medical Epidemiology and Biostatistics, Karolinska Institutetet, Nobels väg 12A, 17165, Stockholm, Solna, Sweden;Department of Medical Epidemiology and Biostatistics, Karolinska Institutetet, Nobels väg 12A, 17165, Stockholm, Solna, Sweden;Department of Psychiatry, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA;Department of Nutrition, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA;Department of Medical Epidemiology and Biostatistics, Karolinska Institutetet, Nobels väg 12A, 17165, Stockholm, Solna, Sweden;Social, Genetic & Developmental Psychiatry Centre, Institute of Psychiatry, Psychology & Neuroscience, King’s College London, London, UK;Department of Medical Epidemiology and Biostatistics, Karolinska Institutetet, Nobels väg 12A, 17165, Stockholm, Solna, Sweden;Social, Genetic & Developmental Psychiatry Centre, Institute of Psychiatry, Psychology & Neuroscience, King’s College London, London, UK;UK National Institute for Health Research (NIHR) Biomedical Research Centre (BRC), South London and Maudsley NHS Foundation Trust, London, UK;National Centre for Register-based Research, Aarhus Business and Social Sciences, Aarhus University, Aarhus, Denmark;Department of Psychiatry and Biobehavioral Sciences, University of California Los Angeles, Los Angeles, CA, USA;Department of Psychiatry, Harvard Medical School, Boston, MA, USA;Eating Disorders Clinical and Research Program, Massachusetts General Hospital, Boston, MA, USA;Department of Women’s and Children’s Health, Karolinska Institutet, Stockholm, Sweden;Division of Psychological and Social Medicine and Developmental Neurosciences, Faculty of Medicine, Technische Universität Dresden, Fetscherstraße 74, 01307, Dresden, Germany;Division of Psychological and Social Medicine and Developmental Neurosciences, Faculty of Medicine, Technische Universität Dresden, Fetscherstraße 74, 01307, Dresden, Germany;Department of Medical Epidemiology and Biostatistics, Karolinska Institutetet, Nobels väg 12A, 17165, Stockholm, Solna, Sweden;Social, Genetic & Developmental Psychiatry Centre, Institute of Psychiatry, Psychology & Neuroscience, King’s College London, London, UK;Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden;

关键词: Twin study;    Risk factors;    Study protocol;    Cognitive functions;    Neuroimaging;    Genetics;    Metabolism;    Microbiota;    Anorexia nervosa;   

DOI  :  10.1186/s12888-020-02903-7

来源: Springer

【 摘 要 】

BackgroundAnorexia 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.MethodsComprehensive 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.DiscussionThe multimodal longitudinal twin assessment of the CREAT study will help to disambiguate state, trait, and “scar” effects, and thereby enable a deeper understanding of the contribution of genetics, epigenetics, cognitive functions, brain structure and function, metabolism, endocrinology, microbiology, and immunology to the etiology and maintenance of AN.

【 授权许可】

CC BY