SynthesisBiological psychiatry2019
Genome-wide Burden of Rare Short Deletions Is Enriched in Major Depressive Disorder in Four Cohorts.
Synthesis in Biological psychiatry, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis 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
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- Genome-wide association meta-analysis and rare copy number variant analysis of treatment-resistant depression.Molecular psychiatry · 2025Pooled it
- The association of objectively and subjectively measured modifiable lifestyle factors with internalizing problems: the role of genetic confounding and shared method variance bias.Social psychiatry and psychiatric epidemiology · 2026Article
- Recurrent and Non-Recurrent Copy Number Variants in Native Americans and a Cosmopolitan Sample in Relation to Alcohol Use Disorder and Other Psychiatric Diseases.Molecular neurobiology · 2026Article
- Recurrent & non-recurrent copy number variants in Native Americans and a cosmopolitan sample in relation to Alcohol Use Disorder and other psychiatric diseases.Research square · 2025Article
- Copy number variations in the Brazilian High-Risk Cohort for Mental Conditions.Revista brasileira de psiquiatria (Sao Paulo, Brazil : 1999) · 2025Article
- Shared Genetic Risk in the Association of Screen Time With Psychiatric Problems in Children.JAMA network open · 2023Article
- Copy Number Variations in Neuropsychiatric Disorders.International journal of molecular sciences · 2023Review
- Major depressive disorder.Nature reviews. Disease primers · 2023Review
- Recent Developments in Autism Genetic Research: A Scientometric Review from 2018 to 2022.Genes · 2022Review
- Genotype-Phenotype Correlations for Putative Haploinsufficient Genes in Deletions of 6q26-q27: Report of Eight Patients and Review of Literature.Global medical genetics · 2022Article
- Major Depressive Disorder: Existing Hypotheses about Pathophysiological Mechanisms and New Genetic Findings.Genes · 2022Review
- Genome-wide DNA methylation and gene expression analyses in monozygotic twins identify potential biomarkers of depression.Translational psychiatry · 2021Article
- Copy number variation and neuropsychiatric illness.Current opinion in genetics & development · 2021Review
- Genetic Architecture of Depression: Where Do We Stand Now?Advances in experimental medicine and biology · 2021Article
- Targeted sequencing of the BDNF gene in young Chinese Han people with major depressive disorder.Molecular genetics & genomic medicine · 2020Article
- FMRP and CYFIP1 at the Synapse and Their Role in Psychiatric Vulnerability.Complex psychiatry · 2020Review
- Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
33 authors at 20 institutions in 8 countries.
Funding
Abstract
backgroundMajor depressive disorder (MDD) is moderately heritable, with a high prevalence and a presumed high heterogeneity. Copy number variants (CNVs) could contribute to the heritable component of risk, but the two previous genome-wide association studies of rare CNVs did not report significant findings.
methodsIn this meta-analysis of four cohorts (5780 patients and 6626 control subjects), we analyzed the association of MDD to 1) genome-wide burden of rare deletions and duplications, partitioned by length (<100 kb or >100 kb) and other characteristics, and 2) individual rare exonic CNVs and CNV regions.
resultsPatients with MDD carried significantly more short deletions than control subjects (p = .0059) but not long deletions or short or long duplications. The confidence interval for long deletions overlapped with that for short deletions, but long deletions were 70% less frequent genome-wide, reducing the power to detect increased burden. The increased burden of short deletions was primarily in intergenic regions. Short deletions in cases were also modestly enriched for high-confidence enhancer regions. No individual CNV achieved thresholds for suggestive or significant association after genome-wide correction. p values < .01 were observed for 15q11.2 duplications (TUBGCP5, CYFIP1, NIPA1, and NIPA2), deletions in or near PRKN or MSR1, and exonic duplications of ATG5.
conclusionsThe increased burden of short deletions in patients with MDD suggests that rare CNVs increase the risk of MDD by disrupting regulatory regions. Results for longer deletions were less clear, but no large effects were observed for long multigenic CNVs (as seen in schizophrenia and autism). Further studies with larger sample sizes are warranted.
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.