ArticlePsychological medicine2017
Psychophysiological endophenotypes to characterize mechanisms of known schizophrenia genetic loci.
Article in Psychological medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Proper conditional analysis in the presence of missing data: Application to large scale meta-analysis of tobacco use phenotypes.PLoS genetics · 2018Pooled it
- P300 in schizophrenia: Then and now.Biological psychology · 2024Review
- Examining associations between genetic and neural risk for externalizing behaviors in adolescence and early adulthood.Psychological medicine · 2024Article
- Network Effects of the 15q13.3 Microdeletion on the Transcriptome and Epigenome in Human-Induced Neurons.Biological psychiatry · 2021Article
- The association of polygenic risk for schizophrenia, bipolar disorder, and depression with neural connectivity in adolescents and young adults: examining developmental and sex differences.Translational psychiatry · 2021Article
- Target-related parietal P3 and medial frontal theta index the genetic risk for problematic substance use.Psychophysiology · 2019Article
- The utility of twins in developmental cognitive neuroscience research: How twins strengthen the ABCD research design.Developmental cognitive neuroscience · 2018Review
- Polygenic Risk Scores in Clinical Psychology: Bridging Genomic Risk to Individual Differences.Annual review of clinical psychology · 2018Review
- Slow Binocular Rivalry as a Potential Endophenotype of Schizophrenia.Frontiers in neuroscience · 2018Article
- A polygenic risk score analysis of psychosis endophenotypes across brain functional, structural, and cognitive domains.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2018Article
- Inferring the Genetic Influences on Psychological Traits Using MRI Connectivity Predictive Models: Demonstration with Cognition.Complex psychiatryArticle
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8 authors.
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Abstract
backgroundEndophenotypes are laboratory-based measures hypothesized to lie in the causal chain between genes and clinical disorder, and to serve as a more powerful way to identify genes associated with the disorder. One promise of endophenotypes is that they may assist in elucidating the neurobehavioral mechanisms by which an associated genetic polymorphism affects disorder risk in complex traits. We evaluated this promise by testing the extent to which variants discovered to be associated with schizophrenia through large-scale meta-analysis show associations with psychophysiological endophenotypes.
methodWe genome-wide genotyped and imputed 4905 individuals. Of these, 1837 were whole-genome-sequenced at 11× depth. In a community-based sample, we conducted targeted tests of variants within schizophrenia-associated loci, as well as genome-wide polygenic tests of association, with 17 psychophysiological endophenotypes including acoustic startle response and affective startle modulation, antisaccade, multiple frequencies of resting electroencephalogram (EEG), electrodermal activity and P300 event-related potential.
resultsUsing single variant tests and gene-based tests we found suggestive evidence for an association between contactin 4 (CNTN4) and antisaccade and P300. We were unable to find any other variant or gene within the 108 schizophrenia loci significantly associated with any of our 17 endophenotypes. Polygenic risk scores indexing genetic vulnerability to schizophrenia were not related to any of the psychophysiological endophenotypes after correction for multiple testing.
conclusionsThe results indicate significant difficulty in using psychophysiological endophenotypes to characterize the genetically influenced neurobehavioral mechanisms by which risk loci identified in genome-wide association studies affect disorder risk.
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