Journal article

Measurement of absolute copy number variation reveals association with essential hypertension

Francine Z Marques, Priscilla R Prestes, Leonardo B Pinheiro, Katrina Scurrah, Kerry R Emslie, Maciej Tomaszewski, Stephen B Harrap, Fadi J Charchar

BMC Medical Genomics | BMC | Published : 2014


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 = 9..

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Awarded by National Health & Medical Research Council of Australia (NHMRC)

Awarded by NHMRC

Awarded by National Heart Foundation

Funding Acknowledgements

We would like to thank BioRad for the support to troubleshoot the ddPCR data. This work was supported by grants from the National Health & Medical Research Council of Australia (NHMRC) (project grant 526662) and the Federation University Australia 'Self-sustaining Regions Research and Innovation Initiative', an Australian Government Collaborative Research Network (CRN). F.Z.M. is supported by NHMRC (APP1052659) and National Heart Foundation (PF12M6785) co-shared Early Career Fellowships. P.R.P. is supported by a Robert HT Smith Fellowship from the Federation University Australia. M.T. is supported by British Heart Foundation. Work undertaken at the National Measurement Institute (L.B.P. and K.R.E.) was supported by the National Enabling Technology Strategy provided by the Commonwealth Government of Australia.