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Exploration of large, rare copy number variants associated with psychiatric and neurodevelopmental disorders in individuals with anorexia nervosa

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Anorexia nervosa (AN) is a serious and heritable psychiatric disorder. To date, studies of copy number variants (CNVs) have been limited and inconclusive because of small sample sizes. We conducted a case-only genome-wide CNV survey in 1983 female AN cases included in the Genetic Consortium for Anorexia Nervosa. Following stringent quality control procedures, we investigated whether pathogenic CNVs in regions previously implicated in psychiatric and neurodevelopmental disorders were present in AN cases. We observed two instances of the well-established pathogenic CNVs in AN cases. In addition, one case had a deletion in the 13q12 region, overlapping with a deletion reported previously in two AN cases. As a secondary aim, we also examined our sample for CNVs over 1 Mbp in size. Out of the 40 instances of such large CNVs that were not implicated previously for AN or neuropsychiatric phenotypes, two of them contained genes with previous neuropsychiatric associations, and only five of them had no associated reports in public CNV databases. Although ours is the largest study of its kind in AN, larger datasets are needed to comprehensively assess the role of CNVs in the etiology of AN.
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Keywords: anorexia nervosa; copy number variation; eating disorders; neuropsychiatric disorders; rare variation

Document Type: Research Article

Affiliations: 1: Departments of Psychiatry 2: Genetics 3: Departments of Psychiatry, Genetics, Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden 4: Departments of Neuroscience and Pharmacology, Altrecht Eating Disorders Rintveld, Zeist, The Netherlands 5: Child and Adolescent Psychiatry, Altrecht Eating Disorders Rintveld, Zeist, The Netherlands 6: Medical Genetics, University Medical Center Utrecht, Utrecht 7: Department of Child and Adolescent Psychiatry, Psychotherapy, and Psychosomatics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany 8: Genetic Causes of Disease Group, Centre for Genomic Regulation, Pompeu Fabra University, Center for Biomedical Research in Network in Epidemiology and Public Health (CIBERESP) 9: Department of Psychiatry and CIBEROBN, University Hospital of Bellvitge-IDIBELL, Department of Clinical Sciences, School of Medicine, University of Barcelona 10: Pompeu Fabra University, Center for Biomedical Research in Network in Epidemiology and Public Health (CIBERESP), ISGLOBAL, Centre for Research in Environmental Epidemiology, Barcelona, Spain 11: Wellcome Trust Sanger Institute, Hinxton, UK 12: Departments of Psychiatry, Genetics, Departments of Medical Epidemiology and Biostatistics 13: Departments of Psychiatry, Nutrition, University of North Carolina, Chapel Hill, North Carolina, USA, Departments of Medical Epidemiology and Biostatistics

Publication date: August 1, 2017

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