ArticlePsychiatry and clinical neurosciences2020
Polygenic risk scores in schizophrenia with clinically significant copy number variants.
Article in Psychiatry and clinical neurosciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- Recurrent Copy Number Variants and Psychiatric Outcomes in the Context of Polygenic Scores.JAMA psychiatry · 2026Article
- Genome-wide association testing beyond SNPs.Nature reviews. Genetics · 2025Review
- Impact of Copy Number Variants and Polygenic Risk Scores on Psychopathology in the UK Biobank.Biological psychiatry · 2023Article
- The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disorders.Molecular psychiatry · 2022Article
- Bench Research Informed by GWAS Results.Cells · 2021Review
- Novel ultra-rare exonic variants identified in a founder population implicate cadherins in schizophrenia.Neuron · 2021Article
- Polygenic risk score as clinical utility in psychiatry: a clinical viewpoint.Journal of human genetics · 2021Review
- Polygenic risk scores for late smoking initiation associated with the risk of schizophrenia.NPJ schizophrenia · 2020Article
- Polygenetic Risk Scores for Major Psychiatric Disorders Among Schizophrenia Patients, Their First-Degree Relatives, and Healthy Participants.The international journal of neuropsychopharmacology · 2020Article
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Authors and funding
12 authors.
Funding
Abstract
aimsRecent studies have revealed that the interplay between polygenic risk scores (PRS) and large copy number variants (CNV; >500kb) is essential for the etiology of schizophrenia (SCZ). To replicate previous findings, including those for smaller CNV (>10kb), the PRS between SCZ patients with and without CNV were compared.
methodsThe PRS were calculated for 724 patients with SCZ and 1178 healthy controls (HC), genotyped using array-based comparative genomic hybridization and single nucleotide polymorphisms chips, and comparisons were made between cases and HC, or between subjects with and without 'clinically significant' CNV.
resultsFirst, we replicated the higher PRS in patients with SCZ compared to that in HC (without taking into account the CNV). For clinically significant CNV, as defined by the American College of Medical Genetics ('pathogenic' and 'uncertain clinical significance, likely pathogenic' CNV), 66 patients with SCZ carried clinically significant CNV, whereas 658 SCZ patients had no such CNV. In the comparison of PRS between cases with/without the CNV, despite no significant difference in PRS, significant enrichment of the well-established risk CNV (22q11.2 deletion and 47,XXY/47,XXX) was observed in the lowest decile of PRS in SCZ patients with the CNV.
conclusionAlthough the present study failed to replicate the significant difference in PRS between SCZ patients with and without clinically significant CNV, SCZ patients with well-established risk CNV tended to have a lower PRS. Therefore, we speculate that the CNV in SCZ patients with lower PRS may contain 'genuine' risk; PRS is a possible tool for prioritizing clinically significant CNV because the power of the CNV association analysis is limited due to their rarity.
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