Association between copy number variations in parkin (PRKN) and schizophrenia and autism spectrum disorder: A case-control study.

Autor: Lo T; Department of Psychiatry, 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., Kimura H; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan., Aleksic B; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan., Okada T; Department of Developmental Disorders, National Institute of Mental Health, National Center of Neurology and Psychiatry, 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., Nawa Y; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan., Torii Y; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan., Yamamoto M; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan., Kimura R; Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan., Funabiki Y; Department of Cognitive, Behavioral and Health Sciences, Graduate School of Human and Environmental Studies, Kyoto University, Kyoto, Japan., Kosaka H; Department of Neuropsychiatry, Faculty of Medical Sciences, University of Fukui, Fukui, Japan., Numata S; Department of Psychiatry, Graduate School of Biomedical Science, Tokushima University, Tokushima, Japan., Kasai K; Department of Neuropsychiatry, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.; International Research Center for Neurointelligence at University of Tokyo Institutes for Advanced Study, Tokyo, Japan., Sasaki T; Laboratory of Health Education, Graduate School of Education, University of Tokyo, Tokyo, Japan., Yokoyama S; Research Center for Child Mental Development, Kanazawa University, Ishikawa, Japan., Munesue T; Research Center for Child Mental Development, Kanazawa University, Ishikawa, Japan., Hashimoto R; Department of Pathology of Mental Diseases, National Institute of Mental Health, National Center of Neurology and Psychiatry, Tokyo, Japan., Yasuda Y; Department of Pathology of Mental Diseases, National Institute of Mental Health, National Center of Neurology and Psychiatry, Tokyo, Japan., Fujimoto M; Department of Psychiatry, Osaka University Graduate School of Medicine, Osaka, Japan., Usami M; Department of Child and Adolescent Psychiatry, Kohnodai Hospital, National Center for Global Health and Medicine, Chiba, Japan., Itokawa 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., Arai M; Schizophrenia Research Project, Department of Psychiatry and Behavioral Sciences, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan., Ohi K; Department of Psychiatry, Gifu University Graduate School of Medicine, Gifu, Japan.; Department of General Internal Medicine, Kanazawa Medical University, Ishikawa, Japan., Someya T; Department of Psychiatry, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan., Watanabe Y; Department of Psychiatry, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan., Egawa J; Department of Psychiatry, Niigata University Graduate School of Medical and Dental Sciences, Niigata, 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., Yamasue H; Department of Psychiatry, Hamamatsu University School of Medicine, Hamamatsu, Japan., Iwata N; Department of Psychiatry, Fujita Health University School of Medicine, Toyoake, Japan., Ikeda M; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan.; Department of Psychiatry, Fujita Health University School of Medicine, Toyoake, Japan., Ozaki N; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan.; Institute for Glyco-core Research, Nagoya University, Nagoya, Japan.
Jazyk: angličtina
Zdroj: Neuropsychopharmacology reports [Neuropsychopharmacol Rep] 2024 Mar; Vol. 44 (1), pp. 42-50. Date of Electronic Publication: 2023 Nov 01.
DOI: 10.1002/npr2.12370
Abstrakt: Aim: The present study aimed to examine the association between copy number variations (CNVs) in parkin (PRKN) and schizophrenia (SCZ) and autism spectrum disorder (ASD) in a large case-control sample.
Method: Array comparative genomic hybridization was performed on 3111 cases with SCZ, 1236 cases with ASD, and 2713 controls. We systematically prioritized likely pathogenic CNVs (LP-CNVs) in PRKN and examined their association with SCZ and ASD.
Results: In total, 3014 SCZ cases (96.9%), 1205 ASD cases (97.5%), and 2671 controls (98.5%) passed quality control. We found that monoallelic carriers of LP-CNVs in PRKN were common (70/6890, 1.02%) and were not at higher risk of SCZ (p = 0.29) or ASD (p = 0.72). We observed that the distribution pattern of LP-CNVs in the Japanese population was consistent with those in other populations. We also identified a patient diagnosed with SCZ and early-onset Parkinson's disease carrying biallelic pathogenic CNVs in PRKN. The absence of Parkinson's symptoms in 10 other monoallelic carriers of the same pathogenic CNV further reflects the lack of effect of monoallelic pathogenic variants in PRKN in the absence of a second hit.
Conclusion: The present findings suggest that monoallelic CNVs in PRKN do not confer a significant risk for SCZ or ASD. However, further studies to investigate the association between biallelic CNVs in PRKN and SCZ and ASD are warranted.
(© 2023 The Authors. Neuropsychopharmacology Reports published by John Wiley & Sons Australia, Ltd on behalf of The Japanese Society of Neuropsychopharmacology.)
Databáze: MEDLINE
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