ArticleThe Journal of investigative dermatology2012
Association of β-defensin copy number and psoriasis in three cohorts of European origin.
Article in The Journal of investigative dermatology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
What it found
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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
31 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Multi-ancestry genome-wide meta-analysis with 472,819 individuals identifies 32 novel risk loci for psoriasis.Journal of translational medicine · 2025Pooled it
- Accessing medically relevant complex regions with a pangenome graph of 20 near-complete Japanese haplotypes.Nature communications · 2026Article
- Influence of DEFB4 copy number variants on gene expression in monocytes.BMC research notes · 2025Article
- Article
- β-Defensin gene copy number variation in cattle.Royal Society open science · 2024Article
- A phenome-wide association study identifies effects of copy-number variation of VNTRs and multicopy genes on multiple human traits.American journal of human genetics · 2022Article
- Development and Evaluation of a Droplet Digital PCR Assay for 8p23 β-Defensin Cluster Copy Number Determination.Molecular diagnosis & therapy · 2021Article
- Insights into the pathogenesis of psoriatic arthritis from genetic studies.Seminars in immunopathology · 2021Review
- Psoriasis and Genetics.Acta dermato-venereologica · 2020Review
- An accurate and powerful method for copy number variation detection.Bioinformatics (Oxford, England) · 2019Article
- DNA methylation-based subclassification of psoriasis in the Chinese Han population.Frontiers of medicine · 2018Article
- Genome-wide association and targeted analysis of copy number variants with psoriatic arthritis in German patients.BMC medical genetics · 2017Article
- Convergent evolution of defensin sequence, structure and function.Cellular and molecular life sciences : CMLS · 2017Review
- Duplication of chicken defensin7 gene generated by gene conversion and homologous recombination.Proceedings of the National Academy of Sciences of the United States of America · 2016Article
- Recurrent copy number variants associated with bronchopulmonary dysplasia.Pediatric research · 2016Article
- Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD).Journal of neuroinflammation · 2016Article
- Human β-Defensin 3 [corrected] Exacerbates MDA5 but Suppresses TLR3 Responses to the Viral Molecular Pattern Mimic Polyinosinic:Polycytidylic Acid.PLoS genetics · 2015Article
- Determining multiallelic complex copy number and sequence variation from high coverage exome sequencing data.BMC genomics · 2015Article
- Complex and multi-allelic copy number variation in human disease.Briefings in functional genomics · 2015Review
- An evolutionary history of defensins: a role for copy number variation in maximizing host innate and adaptive immune responses.Frontiers in immunology · 2015Review
Corrections and comments
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Authors and funding
9 authors.
Funding
Abstract
A single previous study has demonstrated significant association of psoriasis with copy number of β-defensin genes, using DNA from psoriasis cases and controls from Nijmegen and Erlangen. In this study, we attempted to replicate that finding in larger new cohorts from Erlangen (N=2,017) and Michigan (N=5,412), using improved methods for β-defensin copy number determination based on the paralog ratio test, and enhanced methods of analysis and association testing implemented in the CNVtools resource. We demonstrate that the association with psoriasis found in the discovery sample is maintained after applying improved typing and analysis methods (P=5.5 × 10(-4), odds ratio (OR)=1.25). We also find that the association is replicated in 2,616 cases and 2,526 controls from Michigan, although at reduced significance (P=0.014), but not in new samples from Erlangen (1,396 cases and 621 controls, P=0.38). Meta-analysis across all cohorts suggests a nominally significant association (P=6.6 × 10(-3)/2 × 10(-4)) with an effect size (OR=1.081) much lower than found in the discovery study (OR=1.32). This reduced effect size and significance on replication is consistent with a genuine but weak association.
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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.