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Abstract
Objectives: Schizophrenia is a group of severe psychiatric disorders with high heritability but only low odds ratios of risk genes. Despite progress in the identification of pathophysiological processes, valid biomarkers of the disease are still lacking.
Methods: This comprehensive review summarises recent efforts to identify genetic underpinnings, clinical and cognitive endophenotypes and symptom dimensions of schizophrenia and presents findings from neuroimaging studies with structural, functional and spectroscopy magnetic resonance imaging and positron emission tomography. The potential of findings to be biomarkers of schizophrenia is discussed.
Results: Recent findings have not resulted in clear biomarkers for schizophrenia. However, we identified several biomarkers that are potential candidates for future research. Among them, copy number variations and links between genetic polymorphisms derived from genome-wide analysis studies, clinical or cognitive phenotypes, multimodal neuroimaging findings including positron emission tomography and magnetic resonance imaging, and the application of multivariate pattern analyses are promising.
Conclusions: Future studies should address the effects of treatment and stage of the disease more precisely and apply combinations of biomarker candidates. Although biomarkers for schizophrenia await validation, knowledge on candidate genomic and neuroimaging biomarkers is growing rapidly and research on this topic has the potential to identify psychiatric endophenotypes and in the future increase insight on individual treatment response in schizophrenia.
Acknowledgements
The authors thank Jacquie Klesing, Board-certified Editor in the Life Sciences (ELS), for editing assistance with the manuscript.
Statement of interest
B. Malchow, G Stöber, J. Kornhuber, M. Gawlik, D. Keeser and P. Riederer declare no conflicts of interest. S. Kasper has received grant/research support from Bristol Myers-Squibb, Eli Lilly, GlaxoSmithKline, Lundbeck, Organon, Sepracor and Servier; he has served as a consultant or on advisory boards for AstraZeneca, Bristol-Myers Squibb, Eli Lilly, GlaxoSmithKline, Janssen, Lundbeck, Merck Sharp and Dome (MSD), Novartis, Organon, Pfizer, Schwabe, Sepracor, and Servier; and he has served on speakers’ bureaus for Angelini, AstraZeneca, Bristol Myers-Squibb, Eli Lilly, Janssen, Lundbeck, Neuraxpharm, Pfizer, Pierre Fabre, Schwabe, Sepracor, and Servier. R. Lanzenberger received travel grants and/or conference speaker honoraria from AstraZeneca, Lundbeck A/S, Dr. Willmar Schwabe GmbH, Orphan Pharmaceuticals AG, Janssen-Cilag Pharma GmbH, and Roche Austria GmbH. A. Hasan has been invited to scientific meetings by Lundbeck, Janssen-Cilag and Pfizer, received a paid speakership from Desitin, Otsuka and Lundbeck and was member of a Roche advisory board. F. Thibaut received a research grant from Pfizer. M. Jarema has been honorary speaker for Janssen, Lilly, Lundbeck, Angelini, GPharma and Servier. P. Falkai has been an honorary speaker for AstraZeneca, Bristol Myers Squibb, Eli Lilly, Essex, GE Healthcare, GlaxoSmithKline, Janssen Cilag, Lundbeck, Otsuka, Pfizer, Servier and Takeda and during the past 5 years, but not presently, he has been a member of the advisory boards of Janssen-Cilag, AstraZeneca, Eli Lilly and Lundbeck. S. Iceta has been invited to scientific meetings by Servier and Menarini. A. Schmitt has been an honorary speaker for TAD Pharma and Roche and a member of advisory boards for Roche. F Thibaut has been Editor-in-Chief of Dialogues in Clinical Neuroscience since 2015, supported by a grant from Servier. K. Hashimoto was supported by a grant from Comprehensive Research on Disability, Health and Welfare, Agency for Medical Research and Development (AMED), Japan. M. Spies received travel grants from AOP Orphan Pharmaceuticals AG, Janssen, and Eli Lilly and workshop participation from Eli Lilly.