ArticleBiological psychiatry2014
Rare copy number variation in treatment-resistant major depressive disorder.
Article in Biological psychiatry, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 5 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
34 citing papers in PubMed, 5 syntheses or guidelines pooled it, 73 citations in OpenAlex.
- Genome-wide association meta-analysis and rare copy number variant analysis of treatment-resistant depression.Molecular psychiatry · 2025Pooled it
- Clinical Characterization of Copy Number Variants Associated With Neurodevelopmental Disorders in a Large-scale Multiancestry Biobank.JAMA psychiatry · 2022Pooled it
- Genome-wide association study of antidepressant treatment resistance in a population-based cohort using health service prescription data and meta-analysis with GENDEP.The pharmacogenomics journal · 2020Pooled it
- Genome-wide Burden of Rare Short Deletions Is Enriched in Major Depressive Disorder in Four Cohorts.Biological psychiatry · 2019Pooled it
- Genome-wide Association Study of Dimensional Psychopathology Using Electronic Health Records.Biological psychiatry · 2018Pooled it
- Genetics and Neurobiology of Treatment-Resistant Depression-A Review.International journal of molecular sciences · 2025Review
- Impact of Copy Number Variants and Polygenic Risk Scores on Psychopathology in the UK Biobank.Biological psychiatry · 2023Article
- Copy Number Variations in Neuropsychiatric Disorders.International journal of molecular sciences · 2023Review
- The contribution of copy number variants to psychiatric symptoms and cognitive ability.Molecular psychiatry · 2023Review
- Polymorphisms of COMT and CREB1 are associated with treatment-resistant depression in a Chinese Han population.Journal of neural transmission (Vienna, Austria : 1996) · 2022Article
- A super scalable algorithm for short segment detection.Statistics in biosciences · 2021Article
- Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder.Scientific reports · 2020Article
- A polygenic predictor of treatment-resistant depression using whole exome sequencing and genome-wide genotyping.Translational psychiatry · 2020Article
- Characterizing Basic and Complex Usage of i2b2 at an Academic Medical Center.AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science · 2020Article
- Segregation and potential functional impact of a rare stop-gain PABPC4L variant in familial atypical Parkinsonism.Scientific reports · 2019Article
- Pharmacogenetics and Depression: A Critical Perspective.Psychiatry investigation · 2019Article
- Association of Rare Copy Number Variants With Risk of Depression.JAMA psychiatry · 2019Article
- The genetics of neuropsychiatric disorders.Brain and neuroscience advances · 2019Article
- The Genetics of Treatment-Resistant Depression: A Critical Review and Future Perspectives.The international journal of neuropsychopharmacology · 2019Review
- The Stress-Inducible Protein DRR1 Exerts Distinct Effects on Actin Dynamics.International journal of molecular sciences · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 5 institutions in 1 country.
Funding
Abstract
backgroundWhile antidepressant treatment response appears to be partially heritable, no consistent genetic associations have been identified. Large, rare copy number variants (CNVs) play a role in other neuropsychiatric diseases, so we assessed their association with treatment-resistant depression (TRD).
methodsWe analyzed data from two genome-wide association studies comprising 1263 Caucasian patients with major depressive disorder. One was drawn from a large health system by applying natural language processing to electronic health records (i2b2 cohort). The second consisted of a multicenter study of sequential antidepressant treatments, Sequenced Treatment Alternatives to Relieve Depression. The Birdsuite package was used to identify rare deletions and duplications. Individuals without symptomatic remission, despite two antidepressant treatment trials, were contrasted with those who remitted with a first treatment trial.
resultsCNV data were derived for 778 subjects in the i2b2 cohort, including 300 subjects (37%) with TRD, and 485 subjects in Sequenced Treatment Alternatives to Relieve Depression cohort, including 152 (31%) with TRD. CNV burden analyses identified modest enrichment of duplications in cases (empirical p = .04 for duplications of 100-200 kilobase) and a particular deletion region spanning gene PABPC4L (empirical p = .02, 6 cases: 0 controls). Pathway analysis suggested enrichment of CNVs intersecting genes regulating actin cytoskeleton. However, none of these associations survived genome-wide correction.
conclusionsContribution of rare CNVs to TRD appears to be modest, individually or in aggregate. The electronic health record-based methodology demonstrated here should facilitate collection of larger TRD cohorts necessary to further characterize these effects.
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.