Knowns and unknowns for psychophysiological endophenotypes: integration and response to commentaries
Open accessAbstract
We review and summarize seven molecular genetic studies of 17 psychophysiological endophenotypes that comprise this special issue of Psychophysiology, address criticisms raised in accompanying Perspective and Commentary pieces, and offer suggestions for future research. Endophenotypes are polygenic, and possibly influenced by rare genetic variants. Because they are not simpler genetically than clinical phenotypes, they are unlikely to assist gene discovery for psychiatric disorder. Once genetic variants for clinical phenotypes are identified, associated endophenotypes are likely to provide valuable insights into the psychological and neural mechanisms important to disorder pathology. This special issue provides a foundation for informed future steps in endophenotype genetics, including the formation of large sample consortia capable of fleshing out the many genetic variants contributing to individual differences in psychophysiological measures.
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Past decade efforts to define genetic underpinnings of psychiatric endophenotypes were largely unsuccessful in mapping genes to endophenotypes.
“During the past decade, significant efforts were undertaken to define the genetic underpinnings of psychiatric “endophenotypes” (Iacono et al., 2014). These studies, which were large for studies that apply biometrics like electroencephalography (EEG) but small by GWAS standards, were largely unsuccessful in achieving the goal of mapping genes to endophenotypes.”
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“During the past decade, significant efforts were undertaken to define the genetic underpinnings of psychiatric ‘‘endophenotypes’’ (Iacono et al., 2014).”
BackgroundIacono, W. G., Heath, A. C., Hewitt, J. K., Neale, M. C., Banich, M. T., Luciana, M. M., Madden, P. A., Barch, D. M., & Bjork, J. M. (2018) · Developmental Cognitive Neuroscience · doi:10.1016/j.dcn.2017.09.001 · Cited by 94 · see citing works
“…et al., 2012; Clark et al., 2017; Derringer et al., 2015; Maes et al., 2016; McGue et al., 2013; Samek et al., 2016) and associated endophenotypes (Iacono, 2014; Iacono et al., 2014a,b; Liu et al., 2017; Malone et al., 2016, 2014b; Vaidyanathan et al., 2014a,b; Vaidyanathan et al., 2014c;…”
Self-citationMarzuki, A. A., Pereira de Souza, A. M. F. L., Sahakian, B. J., & Robbins, T. W. (2020) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2019.12.010 · Cited by 39 · see citing works
Mathias, S. R., Knowles, E. E. M., Kent, J. W., McKay, D. R., Curran, J. E., de Almeida, M. A. A., Dyer, T. D., Göring, H. H. H., Olvera, R. L., Duggirala, R., et al. (2016) · Human Brain Mapping · doi:10.1002/hbm.23025 · Cited by 28 · see citing works
- Authors
- Iacono, W. G., Vaidyanathan, U., Vrieze, S. I., & Malone, S. M.
- Affiliations
- University of Minnesota (US)
- University of Michigan (US)
- Corresponding author
- Iacono, William G.
- Venue
- Psychophysiology
- Publisher
- Wiley
- Published
- 2014-11-11
- Volume
- 51
- Issue
- 12
- Pages
- 1339-1347
- ISSN
- 0048-5772 (ISSN-L)
- 1469-8986
- PMC
- PMC4231488
- OpenAlex
- W2122541682
- Cited by
- 57
- References
- 45
- Citations by year
- 2025: 1 · 2024: 1 · 2022: 2 · 2021: 3 · 2020: 3 · 2019: 7 · 2018: 6 · 2017: 14 · 2016: 9 · 2015: 11
- FWCI
- 1.50
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Psychophysiology (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Deep Blue (University of Michigan) (submittedVersion)
- Funders
- National Institute on Drug Abuse (05147, 13240, 024417, 036216, 034606)
- National Institute on Alcohol Abuse and Alcoholism (09367)
- National Human Genome Research Institute (007022)
- National Heart, Lung, and Blood Institute (117626)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neurotransmitter Receptor Influence on Behavior
- Keywords
- polygenic traits, rare variants, genetic association studies
- MeSH terms
- Mental Disorders, Brain, Humans, Genetic Variation, Twin Studies as Topic, Genome-Wide Association Study, Endophenotypes
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