ArticleHuman molecular genetics2010
Measurement methods and accuracy in copy number variation: failure to replicate associations of beta-defensin copy number with Crohn's disease.
Article in Human molecular genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers.
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Who cites it
57 citing papers in PubMed.
- Identification of a Novel Slow-Gray STX17 Lineage in Japanese Thoroughbreds via a Multi-tiered Copy Number Analysis Workflow.Biochemical genetics · 2026Article
- Influence of DEFB4 copy number variants on gene expression in monocytes.BMC research notes · 2025Article
- Salivary Th17 cytokine, human β-defensin 1-3, and salivary scavenger and agglutinin levels in Crohn's disease.Clinical oral investigations · 2024Article
- Development and Evaluation of a Droplet Digital PCR Assay for 8p23 β-Defensin Cluster Copy Number Determination.Molecular diagnosis & therapy · 2021Article
- CNV-MEANN: A Neural Network and Mind Evolutionary Algorithm-Based Detection of Copy Number Variations From Next-Generation Sequencing Data.Frontiers in genetics · 2021Article
- Human β-Defensin 2 Mutations Are Associated With Asthma and Atopy in Children and Its Application Prevents Atopic Asthma in a Mouse Model.Frontiers in immunology · 2021Article
- Copy number variation of CCL3L1 among three major ethnic groups in Malaysia.BMC genetics · 2020Article
- The Copy Number of theApplied and environmental microbiology · 2019Article
- Measurement of absolute copy number variation of Glutathione S-Transferase M1 gene by digital droplet PCR and association analysis in Tunisian Rheumatoid Arthritis population.Journal of clinical laboratory analysis · 2018Article
- Human beta defensin (HBD) gene copy number affects HBD2 protein levels: impact on cervical bactericidal immunity in pregnancy.European journal of human genetics : EJHG · 2018Article
- CBF2A-CBF4B genomic region copy numbers alongside the circadian clock play key regulatory mechanisms driving expression of FR-H2 CBFs.Plant molecular biology · 2017Article
- Human β-Defensin 2 in Primary Sclerosing Cholangitis.Clinical and translational gastroenterology · 2017Article
- Population genetics of immune-related multilocus copy number variation in Native Americans.Journal of the Royal Society, Interface · 2017Article
- 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
- Chromosomal mapping of the αMHC-MerCreMer transgene in mice reveals a large genomic deletion.Transgenic research · 2016Article
- Copy number variation of scavenger-receptor cysteine-rich domains within DMBT1 and Crohn's disease.European journal of human genetics : EJHG · 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
- Determining multiallelic complex copy number and sequence variation from high coverage exome sequencing data.BMC genomics · 2015Article
- Association of Higher Defensin β-4 Genomic Copy Numbers with Behçet's Disease in Iraqi Patients.Sultan Qaboos University medical journal · 2015Article
- Complex and multi-allelic copy number variation in human disease.Briefings in functional genomics · 2015Review
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Authors and funding
9 authors.
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Abstract
The copy number variation in beta-defensin genes on human chromosome 8 has been proposed to underlie susceptibility to inflammatory disorders, but presents considerable challenges for accurate typing on the scale required for adequately powered case-control studies. In this work, we have used accurate methods of copy number typing based on the paralogue ratio test (PRT) to assess beta-defensin copy number in more than 1500 UK DNA samples including more than 1000 cases of Crohn's disease. A subset of 625 samples was typed using both PRT-based methods and standard real-time PCR methods, from which direct comparisons highlight potentially serious shortcomings of a real-time PCR assay for typing this variant. Comparing our PRT-based results with two previous studies based only on real-time PCR, we find no evidence to support the reported association of Crohn's disease with either low or high beta-defensin copy number; furthermore, it is noteworthy that there are disagreements between different studies on the observed frequency distribution of copy number states among European controls. We suggest safeguards to be adopted in assessing and reporting the accuracy of copy number measurement, with particular emphasis on integer clustering of results, to avoid reporting of spurious associations in future case-control studies.
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