Association and epistatic analysis of white matter related genes across the continuum schizophrenia and autism spectrum disorders: The joint effect of NRG1-ErbB genes.

Autor: Prats C; Departament de Biologia Evolutiva, Ecologia i Ciències Ambientals, Facultat de Biologia, Universitat de Barcelona, Spain; Institut de Biomedicina de la Universitat de Barcelona (IBUB), Barcelona, Spain.; Instituto de Salud Carlos III, Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Madrid, Spain.; Institut d'Investigació Biomèdica de Bellvitge, Hospital Duran i Reynals, L'Hospitalet de Llobregat, Barcelona, Spain., Fatjó-Vilas M; Departament de Biologia Evolutiva, Ecologia i Ciències Ambientals, Facultat de Biologia, Universitat de Barcelona, Spain; Institut de Biomedicina de la Universitat de Barcelona (IBUB), Barcelona, Spain.; Instituto de Salud Carlos III, Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Madrid, Spain.; FIDMAG Germanes Hospitalàries Research Foundation, Barcelona, Spain., Penzol MJ; Instituto de Salud Carlos III, Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Madrid, Spain.; Department of Child and Adolescent Psychiatry, Institute of Psychiatry and Mental Health, Hospital General Universitario Gregorio Marañón, School of Medicine, Universidad Complutense, IiSGM, Madrid, Spain., Kebir O; INSERM, U1266, Laboratory 'Pathophysiology of psychiatric disorders', Institute of psychiatry and neurosciences of Paris, Paris, France.; GHU Psychiatrie et Neurosciences de Paris, Paris, France., Pina-Camacho L; Instituto de Salud Carlos III, Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Madrid, Spain.; Department of Child and Adolescent Psychiatry, Institute of Psychiatry and Mental Health, Hospital General Universitario Gregorio Marañón, School of Medicine, Universidad Complutense, IiSGM, Madrid, Spain., Demontis D; Department of Biomedicine, Aarhus University, Aarhus, Denmark; The Lundbeck Foundation Initiative for Integrative Psychiatric Research iPSYCH, Aarhus, Denmark., Crespo-Facorro B; Instituto de Salud Carlos III, Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Madrid, Spain.; University Hospital Virgen del Rocio, IbiS Department of Psychiatry, School of Medicine, University of Sevilla, Sevilla, Spain., Peralta V; Gerencia de Salud Mental, Servicio Navarro de Salud-Osasunbidea, Pamplona, Navarra, Spain.; Instituto de Investigación Sanitaria de Navarra (IdiSNa), Pamplona, Navarra, Spain., González-Pinto A; Instituto de Salud Carlos III, Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Madrid, Spain.; Psychiatry Service, University Hospital of Alava-Santiago, EMBREC, EHU/UPV University of the Basque Country, Kronikgune, Vitoria, Spain., Pomarol-Clotet E; Instituto de Salud Carlos III, Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Madrid, Spain.; FIDMAG Germanes Hospitalàries Research Foundation, Barcelona, Spain., Papiol S; Instituto de Salud Carlos III, Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Madrid, Spain.; Institute of Psychiatric Phenomics and Genomics (IPPG), University Hospital, LMU Munich, Munich, Germany.; Department of Psychiatry, University Hospital, Ludwig Maximilian University, Munich, Germany., Parellada M; Instituto de Salud Carlos III, Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Madrid, Spain.; Department of Child and Adolescent Psychiatry, Institute of Psychiatry and Mental Health, Hospital General Universitario Gregorio Marañón, School of Medicine, Universidad Complutense, IiSGM, Madrid, Spain., Krebs MO; INSERM, U1266, Laboratory 'Pathophysiology of psychiatric disorders', Institute of psychiatry and neurosciences of Paris, Paris, France.; University Paris Descartes, Sorbonne Paris Cité, Faculté de Médecine Paris Descartes, Service Hospitalo-Universitaire, Centre Hospitalier Sainte-Anne, Paris, France., Fañanás L; Departament de Biologia Evolutiva, Ecologia i Ciències Ambientals, Facultat de Biologia, Universitat de Barcelona, Spain; Institut de Biomedicina de la Universitat de Barcelona (IBUB), Barcelona, Spain.; Instituto de Salud Carlos III, Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Madrid, Spain.
Jazyk: angličtina
Zdroj: The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry [World J Biol Psychiatry] 2022 Mar; Vol. 23 (3), pp. 208-218. Date of Electronic Publication: 2021 Aug 02.
DOI: 10.1080/15622975.2021.1939155
Abstrakt: Background: Schizophrenia-spectrum disorders (SSD) and Autism spectrum disorders (ASD) are neurodevelopmental disorders that share clinical, cognitive, and genetic characteristics, as well as particular white matter (WM) abnormalities. In this study, we aimed to investigate the role of a set of oligodendrocyte/myelin-related (OMR) genes and their epistatic effect on the risk for SSD and ASD.
Methods: We examined 108 SNPs in a set of 22 OMR genes in 1749 subjects divided into three independent samples (187 SSD trios, 915 SSD cases/control, and 91 ASD trios). Genetic association and gene-gene interaction analyses were conducted with PLINK and MB-MDR, and permutation procedures were implemented in both.
Results: Some OMR genes showed an association trend with SSD, while after correction, the ones that remained significantly associated were MBP , ERBB3 , and AKT1. Significant gene-gene interactions were found between (i) NRG1 * MBP ( perm p -value = 0.002) in the SSD trios sample, (ii) ERBB3*AKT1 ( perm p -value = 0.001) in the SSD case-control sample, and (iii) ERBB3 * QKI ( perm p -value = 0.0006) in the ASD trios sample.
Discussion: Our results suggest the implication of OMR genes in the risk for both SSD and ASD and highlight the role of NRG1 and ERBB genes. These findings are in line with the previous evidence and may suggest pathophysiological mechanisms related to NRG1/ERBBs signalling in these disorders.
Databáze: MEDLINE
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