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Title: Measurement of absolute copy number variation reveals association with essential hypertension
Authors: Marques, F. Z.
Prestes, P. R.
Pinheiro, L. B.
Scurrah, K.
Emslie, K. R.
Tomaszewski, Maciej
Harrap, S. B.
Charchar, F. J.
First Published: 15-Jul-2014
Publisher: BioMed Central
Citation: BMC Medical Genomics 2014, 7 : 44
Abstract: BACKGROUND: The 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. METHODS: Using 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. RESULTS: A 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). CONCLUSIONS: Our data suggests that CNVs within regions identified in previous GWAS may play a role in human essential hypertension.
DOI Link: 10.1186/1755-8794-7-44
eISSN: 1755-8794
Version: Publisher Version
Status: Peer-reviewed
Type: Journal Article
Rights: Copyright © 2014 Marques et al.; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver ( applies to the data made available in this article, unless otherwise stated.
Appears in Collections:Published Articles, Dept. of Cardiovascular Sciences

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