Measurement of absolute copy number variation reveals association with essential hypertension.

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

SUBMITTER: Marques FZ 

PROVIDER: S-EPMC4107748 | biostudies-literature | 2014 Jul

REPOSITORIES: biostudies-literature