ArticleBMC medical genomics2014
Measurement of absolute copy number variation reveals association with essential hypertension.
Article in BMC medical genomics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 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
11 citing papers in PubMed, 28 citations in OpenAlex.
- Copy Number Variants and Their Association With Intracerebral Hemorrhage Risk: A Case-Control Study.Annals of clinical and translational neurology · 2026Article
- A prediction model for the impact of environmental and genetic factors on cardiovascular events: development in a salt substitutes population.Journal of translational medicine · 2023Article
- INDEX-db: The Indian Exome Reference Database (Phase I).Journal of computational biology : a journal of computational molecular cell biology · 2019Article
- Perspective: DNA Copy Number Variations in Cardiovascular Diseases.Epigenetics insights · 2018Review
- Is there a link between mitochondrial DNA and blood pressure?Journal of human hypertension · 2017Article
- Detection of newly produced T and B lymphocytes by digital PCR in blood stored dry on nylon flocked swabs.Journal of translational medicine · 2017Article
- Droplet digital PCR is a powerful technique to demonstrate frequent FGFR1 duplication in dysembryoplastic neuroepithelial tumors.Oncotarget · 2017Article
- Genome-wide association study of copy number variation with lung function identifies a novel signal of association near BANP for forced vital capacity.BMC genetics · 2016Article
- Genome Wide Association Study Identifies L3MBTL4 as a Novel Susceptibility Gene for Hypertension.Scientific reports · 2016Article
- Article
- Complex and multi-allelic copy number variation in human disease.Briefings in functional genomics · 2015Review
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe role of copy number variation (CNV) has been poorly explored in essential hypertension in part due to technical difficulties in accurately assessing absolute numbers of DNA copies. Droplet digital PCR (ddPCR) provides a powerful new approach to CNV quantitation. The aim of our study was to investigate whether CNVs located in regions previously associated with blood pressure (BP) variation in genome-wide association studies (GWAS) were associated with essential hypertension by the use of ddPCR.
methodsUsing a "power of extreme" approach, we quantified nucleic acids using ddPCR in white subjects from the Victorian Family Heart Study with extremely high (n = 96) and low (n = 92) SBP, providing power equivalent to 1714 subjects selected at random.
resultsA deletion of the CNVs esv27061 and esv2757747 on chromosome 1p13.2 was significantly more prevalent in extreme high BP subjects after adjustment for age, body mass index and sex (12.6% vs. 2.2%; P = 0.013).
conclusionsOur data suggests that CNVs within regions identified in previous GWAS may play a role in human essential hypertension.
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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.