ArticleAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics2018
A polygenic risk score analysis of psychosis endophenotypes across brain functional, structural, and cognitive domains.
Article in American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis that pooled it.
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Who cites it
41 citing papers in PubMed, 1 synthesis or guideline pooled it, 69 citations in OpenAlex.
- Linking Polygenic Risk of Schizophrenia to Variation in Magnetic Resonance Imaging Brain Measures: A Comprehensive Systematic Review.Schizophrenia bulletin · 2024Pooled it
- Upregulation of DNA repair-related genes in the prefrontal cortex of patients with schizophrenia with low genetic risk.Schizophrenia (Heidelberg, Germany) · 2026Article
- Polygenic risk for schizophrenia is associated with white matter microstructure, cognitive and mental health.Schizophrenia (Heidelberg, Germany) · 2025Article
- Effect of polygenic scores on the relationship between psychosis and cognition.Translational psychiatry · 2025Article
- The independent role of fine particulate matter and genetic liability on cognition in older adults.Annals of general psychiatry · 2025Article
- Independent inheritance of cognition and bipolar disorder in a family sample.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2025Article
- Psychosis Endophenotypes: A Gene-Set-Specific Polygenic Risk Score Analysis.Schizophrenia bulletin · 2023Article
- Dissecting Schizotypy and Its Association With Cognition and Polygenic Risk for Schizophrenia in a Nonclinical Sample.Schizophrenia bulletin · 2023Article
- Identification of schizophrenia symptom-related gene modules by postmortem brain transcriptome analysis.Translational psychiatry · 2023Article
- Cognitive impairment in schizophrenia: aetiology, pathophysiology, and treatment.Molecular psychiatry · 2023Review
- Working memory and sensory memory in subclinical high schizotypy: An avenue for understanding schizophrenia?The European journal of neuroscience · 2023Review
- The foundation and architecture of precision medicine in neurology and psychiatry.Trends in neurosciences · 2023Review
- Barriers to genetic testing in clinical psychiatry and ways to overcome them: from clinicians' attitudes to sociocultural differences between patients across the globe.Translational psychiatry · 2022Review
- Article
- Neurophysiology in psychosis: The quest for disease biomarkers.Translational psychiatry · 2022Review
- The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disorders.Molecular psychiatry · 2022Article
- Advances in Using MRI to Estimate the Risk of Future Outcomes in Mental Health - Are We Getting There?Frontiers in psychiatry · 2022Article
- Polygenic risk for obsessive-compulsive disorder (OCD) predicts brain response during working memory task in OCD, unaffected relatives, and healthy controls.Scientific reports · 2021Observational
- Genetic risk for bipolar disorder and schizophrenia predicts structure and function of the ventromedial prefrontal cortex.Journal of psychiatry & neuroscience : JPN · 2021Article
- Biomarker Profiles in Psychosis Risk Groups Within Unaffected Relatives Based on Familiality and Age.Schizophrenia bulletin · 2021Article
Corrections and comments
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Authors and funding
36 authors at 11 institutions in 11 countries.
Funding
Abstract
This large multi-center study investigates the relationships between genetic risk for schizophrenia and bipolar disorder, and multi-modal endophenotypes for psychosis. The sample included 4,242 individuals; 1,087 patients with psychosis, 822 unaffected first-degree relatives of patients, and 2,333 controls. Endophenotypes included the P300 event-related potential (N = 515), lateral ventricular volume (N = 798), and the cognitive measures block design (N = 3,089), digit span (N = 1,437), and the Ray Auditory Verbal Learning Task (N = 2,406). Data were collected across 11 sites in Europe and Australia; all genotyping and genetic analyses were done at the same laboratory in the United Kingdom. We calculated polygenic risk scores for schizophrenia and bipolar disorder separately, and used linear regression to test whether polygenic scores influenced the endophenotypes. Results showed that higher polygenic scores for schizophrenia were associated with poorer performance on the block design task and explained 0.2% (p = 0.009) of the variance. Associations in the same direction were found for bipolar disorder scores, but this was not statistically significant at the 1% level (p = 0.02). The schizophrenia score explained 0.4% of variance in lateral ventricular volumes, the largest across all phenotypes examined, although this was not significant (p = 0.063). None of the remaining associations reached significance after correction for multiple testing (with alpha at 1%). These results indicate that common genetic variants associated with schizophrenia predict performance in spatial visualization, providing additional evidence that this measure is an endophenotype for the disorder with shared genetic risk variants. The use of endophenotypes such as this will help to characterize the effects of common genetic variation in psychosis.
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Registered trials
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