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Abstract

第125巻第10号

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Contribution of Copy Number Variants in Severe Eating Disorders
Itaru KUSHIMA1,2, Miho IMAEDA3, Satoshi TANAKA4,5, Hidekazu KATO6, Tomoko OYA7, Masahiro NAKATOCHI8, Branko ALEKSIC1, Norio OZAKI9
1 Department of Psychiatry, Nagoya University Graduate School of Medicine
2 Medical Genomics Center, Nagoya University Hospital
3 Sakura Clinic
4 National Hospital Organization Higashiowari National Hospital
5 Clinical Research Center, National Hospital Organization Nagoya Medical Center
6 Child and Adolescent Psychiatry, Nagoya University Hospital
7 Department of Nutrition, Shubun University
8 Public Health Informatics Unit, Department of Integrated Health Sciences, Nagoya University Graduate School of Medicine
9 Pathophysiology of Mental Disorders, Nagoya University Graduate School of Medicine
Psychiatria et Neurologia Japonica 125: 839-843, 2023
https://doi.org/10.57369/pnj.23-120

 Among eating disorders, anorexia nervosa still lacks well-established treatment, and it has been reported to be associated with a high mortality rate. Many aspects of its brain pathology remain unclear, and research methodologies are currently limited. Epidemiological studies suggest that genetic factors play a role in the onset of eating disorders, and the search for genome variants associated with the onset risk is advancing, backed by the development of genome analysis technology. In this article, we introduce research on single nucleotide polymorphisms (SNPs) and copy number variants (CNVs) among these variants. These genomic studies also show that there are common genetic factors between eating disorders (anorexia nervosa) and other psychiatric disorders. In the CNV study conducted by the authors, it was suggested that variants were enriched in synapse-related genes, suggesting a possible association with synaptic dysfunction. In the future, large-scale genome analyses will hopefully clarify the genetic factors of eating disorders, and advanced understanding of the pathology will be achieved through analyses of model organisms.
 Authors' abstract

Keywords:eating disorder, copy number variant, synapse>
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