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The utility of copy number variation (CNV) in studies of hypertension-related left ventricular hypertrophy (LVH): rationale, potential and challenges

Hoh BoonPeng12* and Khalid Yusoff2

Author Affiliations

1 Institute of Medical Molecular Biotechnology, Faculty of Medicine, Universiti Teknologi MARA, Sungai Buloh Campus, Jalan Hospital, Sungai, Buloh, 47000, Malaysia

2 Faculty of Medicine, Universiti Teknologi MARA, Selayang Campus, Jalan Prima 7, 68100 Batu Caves, Selangor, Malaysia

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Molecular Cytogenetics 2013, 6:8  doi:10.1186/1755-8166-6-8

Published: 1 March 2013


The ultimate goal of human genetics is to understand the role of genome variation in elucidating human traits and diseases. Besides single nucleotide polymorphism (SNP), copy number variation (CNV), defined as gains or losses of a DNA segment larger than 1 kb, has recently emerged as an important tool in understanding heritable source of human genomic differences. It has been shown to contribute to genetic susceptibility of various common and complex diseases. Despite a handful of publications, its role in cardiovascular diseases remains largely unknown. Here, we deliberate on the currently available technologies for CNV detection. The possible utility and the potential roles of CNV in exploring the mechanisms of cardiac remodeling in hypertension will also be addressed. Finally, we discuss the challenges for investigations of CNV in cardiovascular diseases and its possible implications in diagnosis of hypertension-related left ventricular hypertrophy (LVH).

Copy number variation; Genetic susceptibility; Hypertension; Left ventricular hypertrophy