Copy number variations in RNF216 and postsynaptic membrane-associated genes are associated with bipolar disorder: a case-control study in the Japanese population.

Autor: Nakatochi M; Public Health Informatics Unit, Department of Integrated Health Science, Nagoya University Graduate School of Medicine, Nagoya, Japan., Kushima I; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan.; Medical Genomics Center, Nagoya University Hospital, Nagoya, Japan., Aleksic B; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan., Kimura H; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan., Kato H; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan., Inada T; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan., Torii Y; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan., Takahashi N; Department of Child and Adolescent Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan., Yamamoto M; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan., Iwamoto K; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan., Nawa Y; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan., Iritani S; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan.; Okehazama Hospital Brain Research Institute, Toyoake, Japan., Iwata N; Department of Psychiatry, Fujita Health University School of Medicine, Toyoake, Japan., Saito T; Department of Psychiatry, Fujita Health University School of Medicine, Toyoake, Japan., Ninomiya K; Department of Psychiatry, Fujita Health University School of Medicine, Toyoake, Japan., Okochi T; Department of Psychiatry, Fujita Health University School of Medicine, Toyoake, Japan., Hashimoto R; Department of Pathology of Mental Diseases, National Institute of Mental Health, National Center of Neurology and Psychiatry, Kodaira, Japan., Yamamori H; Department of Pathology of Mental Diseases, National Institute of Mental Health, National Center of Neurology and Psychiatry, Kodaira, Japan.; Department of Psychiatry, Osaka University Graduate School of Medicine, Suita, Japan.; Japan Community Health care Organization Osaka Hospital, Fukushima, Japan., Yasuda Y; Department of Pathology of Mental Diseases, National Institute of Mental Health, National Center of Neurology and Psychiatry, Kodaira, Japan.; Life Grow Brilliant Mental Clinic, Medical Corporation Foster, Osaka, Japan., Fujimoto M; Department of Pathology of Mental Diseases, National Institute of Mental Health, National Center of Neurology and Psychiatry, Kodaira, Japan.; Department of Psychiatry, Osaka University Graduate School of Medicine, Suita, Japan., Miura K; Department of Pathology of Mental Diseases, National Institute of Mental Health, National Center of Neurology and Psychiatry, Kodaira, Japan., Ohi K; Department of Psychiatry, Gifu University Graduate School of Medicine, Gifu, Japan.; Department of General Internal Medicine, Kanazawa Medical University, Uchinada, Japan., Shioiri T; Department of Psychiatry, Gifu University Graduate School of Medicine, Gifu, Japan., Kitaichi K; Laboratory of Pharmaceutics, Department of Biomedical Pharmaceutics, Gifu Pharmaceutical University, Gifu, Japan., Itokawa M; Vice Director General, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan., Arai M; Schizophrenia Research Project, Department of Psychiatry and Behavioral Sciences, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan., Miyashita M; Schizophrenia Research Project, Department of Psychiatry and Behavioral Sciences, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan.; Department of Psychiatry, Tokyo Metropolitan Matsuzawa Hospital, Tokyo, Japan.; Department of Psychiatry, Takatsuki Clinic, Akishima, Japan., Toriumi K; Schizophrenia Research Project, Department of Psychiatry and Behavioral Sciences, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan., Takahashi T; Department of Neuropsychiatry, University of Toyama Graduate School of Medicine and Pharmaceutical Sciences, Toyama, Japan.; Research Center for Idling Brain Science, University of Toyama, Toyama, Japan., Suzuki M; Department of Neuropsychiatry, University of Toyama Graduate School of Medicine and Pharmaceutical Sciences, Toyama, Japan.; Research Center for Idling Brain Science, University of Toyama, Toyama, Japan., Kato TA; Department of Neuropsychiatry, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Kanba S; Department of Neuropsychiatry, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.; Japan Depression Center, Tokyo, Japan., Horikawa H; Department of Neuropsychiatry, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.; Horikawa Hospital, Kurume, Japan., Kasai K; Department of Neuropsychiatry, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.; The International Research Center for Neurointelligence at The University of Tokyo Institutes for Advanced Study, Tokyo, Japan., Ikegame T; Department of Neuropsychiatry, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan., Jinde S; Department of Neuropsychiatry, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan., Kato T; Department of Psychiatry and Behavioral Science, Juntendo University Graduate School of Medicine, Tokyo, Japan., Kakiuchi C; Department of Psychiatry and Behavioral Science, Juntendo University Graduate School of Medicine, Tokyo, Japan., Yamagata B; Department of Neuropsychiatry, Keio University School of Medicine, Tokyo, Japan., Nio S; Department of Psychiatry, Saiseikai Central Hospital, Tokyo, Japan., Kunii Y; Department of Disaster Psychiatry, International Research Institute of Disaster Science, Tohoku University, Sendai, Japan., Yabe H; Department of Mind & Brain Medicine, Fukushima Medical University, Fukushima, Japan., Okamura Y; Advanced Research Center for Innovations in Next-Generation Medicine, Tohoku University, Sendai, Japan.; Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan., Tadaka S; Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan., Fumihiko U; Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan., Obara T; Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan., Yamamoto Y; Public Health Informatics Unit, Department of Integrated Health Science, Nagoya University Graduate School of Medicine, Nagoya, Japan., Arioka Y; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan.; Center for Advanced Medicine and Clinical Research, Nagoya University Hospital, Nagoya, Japan., Mori D; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan.; Brain and Mind Research Center, Nagoya University, Nagoya, Japan.; Pathophysiology of Mental Disorders, Nagoya University Graduate School of Medicine, Nagoya, Japan., Ikeda M; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan., Ozaki N; Pathophysiology of Mental Disorders, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Jazyk: angličtina
Zdroj: Psychiatry and clinical neurosciences [Psychiatry Clin Neurosci] 2025 Jan; Vol. 79 (1), pp. 12-20. Date of Electronic Publication: 2024 Oct 15.
DOI: 10.1111/pcn.13752
Abstrakt: Aim: Bipolar disorder (BD) is a common psychiatric disorder characterized by alterations between manic/hypomanic and depressive states. Rare pathogenic copy number variations (CNVs) that overlap with exons of synaptic genes have been associated with BD. However, no study has comprehensively explored CNVs in synaptic genes associated with BD. Here, we evaluated the relationship between BD and rare CNVs that overlap with synaptic genes, not limited to exons, in the Japanese population.
Methods: Using array comparative genome hybridization, we detected CNVs in 1839 patients with BD and 2760 controls. We used the Synaptic Gene Ontology database to identify rare CNVs that overlap with synaptic genes. Using gene-based analysis, we compared their frequencies between the BD and control groups. We also searched for synaptic gene sets related to BD. The significance level was set to a false discovery rate of 10%.
Results: The RNF216 gene was significantly associated with BD (odds ratio, 4.51 [95% confidence interval, 1.66-14.89], false discovery rate < 10%). The BD-associated CNV that corresponded with RNF216 also partially overlapped with the minimal critical region of the 7p22.1 microduplication syndrome. The integral component of the postsynaptic membrane (Gene Ontology:0099055) was significantly associated with BD. The CNV overlapping with the intron region of GRM5 in this gene set showed a nominal significant association between cases and controls (P < 0.05).
Conclusion: We provide evidence that CNVs in RNF216 and postsynaptic membrane-related genes confer a risk of BD, contributing to a better understanding of the pathogenesis of BD.
(© 2024 The Author(s). Psychiatry and Clinical Neurosciences published by John Wiley & Sons Australia, Ltd on behalf of Japanese Society of Psychiatry and Neurology.)
Databáze: MEDLINE
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