ArticlePloS one2011
Determination of beta-defensin genomic copy number in different populations: a comparison of three methods.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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.
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Who cites it
24 citing papers in PubMed, 43 citations in OpenAlex.
- Copy Number Variation in Asthma: An Integrative Review.Clinical reviews in allergy & immunology · 2025Review
- Two Single Nucleotide Deletions in theInternational journal of molecular sciences · 2023Article
- Article
- Copy number variation of scavenger-receptor cysteine-rich domains within DMBT1 and Crohn's disease.European journal of human genetics : EJHG · 2016Article
- Lipid levels in HIV-positive men receiving anti-retroviral therapy are not associated with copy number variation of reverse cholesterol transport pathway genes.BMC research notes · 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
- A comparison of assays for accurate copy number measurement of the low-affinity Fc gamma receptor genes FCGR3A and FCGR3B.PloS one · 2015Article
- Digital genotyping of macrosatellites and multicopy genes reveals novel biological functions associated with copy number variation of large tandem repeats.PLoS genetics · 2014Article
- Technical considerations for genotyping multi-allelic copy number variation (CNV), in regions of segmental duplication.BMC genomics · 2014Article
- Narrowing down the distal border of the copy number variable beta-defensin gene cluster on human 8p23.BMC research notes · 2014Article
- A 129-kb deletion on chromosome 12 confers substantial protection against rheumatoid arthritis, implicating the gene SLC2A3.Human mutation · 2014Article
- 8p23 beta-defensin copy number determination by single-locus pseudogene-based paralog ratio tests risk bias due to low-frequency sequence variations.BMC genomics · 2014Article
- Article
- Article
- Accurate measurement of gene copy number for human alpha-defensin DEFA1A3.BMC genomics · 2013Article
- Automated design of paralogue ratio test assays for the accurate and rapid typing of copy number variation.Bioinformatics (Oxford, England) · 2013Article
- Variation in human β-defensin genes: new insights from a multi-population study.International journal of immunogenetics · 2013Article
- β-Defensin Genomic Copy Number Does Not Influence the Age of Onset in Huntington's Disease.Journal of Huntington's disease · 2013Article
- The utility of copy number variation (CNV) in studies of hypertension-related left ventricular hypertrophy (LVH): rationale, potential and challenges.Molecular cytogenetics · 2013Article
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 5 countries.
Funding
Abstract
backgroundThere have been conflicting reports in the literature on association of gene copy number with disease, including CCL3L1 and HIV susceptibility, and β-defensins and Crohn's disease. Quantification of precise gene copy numbers is important in order to define any association of gene copy number with disease. At present, real-time quantitative PCR (QPCR) is the most commonly used method to determine gene copy number, however the Paralogue Ratio Test (PRT) is being used in more and more laboratories.
findingsIn this study we compare a Pyrosequencing-based Paralogue Ratio Test (PPRT) for determining beta-defensin gene copy number with two currently used methods for gene copy number determination, QPCR and triplex PRT by typing five different cohorts (UK, Danish, Portuguese, Ghanaian and Czech) of DNA from a total of 576 healthy individuals. We found a systematic measurement bias between DNA cohorts revealed by QPCR, but not by the PRT-based methods. Using PRT, copy number ranged from 2 to 9 copies, with a modal copy number of 4 in all populations.
conclusionsQPCR is very sensitive to quality of the template DNA, generating systematic biases that could produce false-positive or negative disease associations. Both triplex PRT and PPRT do not show this systematic bias, and type copy number within the correct range, although triplex PRT appears to be a more precise and accurate method to type beta-defensin copy number.
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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.