ArticleJAMA psychiatry2013
Implication of a rare deletion at distal 16p11.2 in schizophrenia.
Article in JAMA psychiatry, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
42 citing papers in PubMed, 2 syntheses or guidelines pooled it, 111 citations in OpenAlex.
- Dissecting Schizophrenia Biology Using Pleiotropy With Cognitive Genomics.Biological psychiatry · 2025Pooled it
- Molecular genetic evidence for overlap between general cognitive ability and risk for schizophrenia: a report from the Cognitive Genomics consorTium (COGENT).Molecular psychiatry · 2014Pooled it
- Zebrafish screen of schizophrenia risk genes reveals convergent dysregulation of cholesterol metabolism.bioRxiv : the preprint server for biology · 2026Article
- Dissecting Schizophrenia Biology Using Pleiotropy with Cognitive Genomics.medRxiv : the preprint server for health sciences · 2024Article
- Association between increased BMI and cognitive function in first-episode drug-naïve male schizophrenia.Frontiers in psychiatry · 2024Article
- The Phenotypic variability of 16p11.2 distal BP2-BP3 deletion in a transgenerational family and in neurodevelopmentally ascertained samples.Journal of medical genetics · 2023Article
- Patient Brain Organoids Identify a Link between the 16p11.2 Copy Number Variant and theACS chemical neuroscience · 2023Article
- Chromosomal deletions on 16p11.2 encompassing SH2B1 are associated with accelerated metabolic disease.Cell reports. Medicine · 2023Article
- Aspartate beta-hydroxylase domain containing 1 as a prognostic marker associated with immune infiltration in skin cutaneous melanoma.BMC cancer · 2023Article
- Genome-wide copy number variant screening of Saudi schizophrenia patients reveals larger deletions in cases versus controls.Frontiers in molecular neuroscience · 2023Article
- Novel ultra-rare exonic variants identified in a founder population implicate cadherins in schizophrenia.Neuron · 2021Article
- Neurexins in autism and schizophrenia-a review of patient mutations, mouse models and potential future directions.Molecular psychiatry · 2021Review
- Case Report: The Association Between Chromosomal Anomalies and Cluster A Personality Disorders: The Case of Two Siblings With 16p11.2 Deletion and a Review of the Literature.Frontiers in psychiatry · 2021Article
- Characterization of Single Gene Copy Number Variants in Schizophrenia.Biological psychiatry · 2020Article
- The genetics of bipolar disorder.Molecular psychiatry · 2020Review
- Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia.Molecular psychiatry · 2020Article
- Nordic OCD & Related Disorders Consortium: Rationale, design, and methods.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2020Article
- Chromatin profiling of cortical neurons identifies individual epigenetic signatures in schizophrenia.Translational psychiatry · 2019Article
- Genetic insights and neurobiological implications from NRXN1 in neuropsychiatric disorders.Molecular psychiatry · 2019Review
- Copy Number Variations in Adult-onset Neuropsychiatric Diseases.Current genomics · 2018Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
48 authors at 1 institution in 1 country.
Funding
Abstract
contextLarge genomic copy number variations have been implicated as strong risk factors for schizophrenia. However, the rarity of these events has created challenges for the identification of further pathogenic loci, and extremely large samples are required to provide convincing replication.
objectiveTo detect novel copy number variations that increase the susceptibility to schizophrenia by using 2 ethnically homogeneous discovery cohorts and replication in large samples.
designGenetic association study of microarray data.
settingSamples of DNA were collected at 9 sites from different countries.
participantsTwo discovery cohorts consisted of 790 cases with schizophrenia and schizoaffective disorder and 1347 controls of Ashkenazi Jewish descent and 662 parent-offspring trios from Bulgaria, of which the offspring had schizophrenia or schizoaffective disorder. Replication data sets consisted of 12,398 cases and 17,945 controls.
main outcome measuresStatistically increased rate of specific copy number variations in cases vs controls.
resultsOne novel locus was implicated: a deletion at distal 16p11.2, which does not overlap the proximal 16p11.2 locus previously reported in schizophrenia and autism. Deletions at this locus were found in 13 of 13,850 cases (0.094%) and 3 of 19,954 controls (0.015%) (odds ratio, 6.25 [95% CI, 1.78-21.93]; P = .001, Fisher exact test).
conclusionsDeletions at distal 16p11.2 have been previously implicated in developmental delay and obesity. The region contains 9 genes, several of which are implicated in neurological diseases, regulation of body weight, and glucose homeostasis. A telomeric extension of the deletion, observed in about half the cases but no controls, potentially implicates an additional 8 genes. Our findings add a new locus to the list of copy number variations that increase the risk for development of schizophrenia.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.