The utility of copy number variation (CNV) in studies of hypertension-related left ventricular hypertrophy (LVH): Rationale, potential and challenges
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 to...
Published in: | Molecular Cytogenetics |
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2013
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2-s2.0-85040956304 Boon-Peng H.; Yusoff K. The utility of copy number variation (CNV) in studies of hypertension-related left ventricular hypertrophy (LVH): Rationale, potential and challenges 2013 Molecular Cytogenetics 6 1 10.1186/1755-8166-6-8 https://www.scopus.com/inward/record.uri?eid=2-s2.0-85040956304&doi=10.1186%2f1755-8166-6-8&partnerID=40&md5=5583275bb21358787182d473b93566b6 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). © 2013 BoonPeng and Yusoff; licensee BioMed Central Ltd. BioMed Central Ltd. 17558166 English Review All Open Access; Gold Open Access |
author |
Boon-Peng H.; Yusoff K. |
spellingShingle |
Boon-Peng H.; Yusoff K. The utility of copy number variation (CNV) in studies of hypertension-related left ventricular hypertrophy (LVH): Rationale, potential and challenges |
author_facet |
Boon-Peng H.; Yusoff K. |
author_sort |
Boon-Peng H.; Yusoff K. |
title |
The utility of copy number variation (CNV) in studies of hypertension-related left ventricular hypertrophy (LVH): Rationale, potential and challenges |
title_short |
The utility of copy number variation (CNV) in studies of hypertension-related left ventricular hypertrophy (LVH): Rationale, potential and challenges |
title_full |
The utility of copy number variation (CNV) in studies of hypertension-related left ventricular hypertrophy (LVH): Rationale, potential and challenges |
title_fullStr |
The utility of copy number variation (CNV) in studies of hypertension-related left ventricular hypertrophy (LVH): Rationale, potential and challenges |
title_full_unstemmed |
The utility of copy number variation (CNV) in studies of hypertension-related left ventricular hypertrophy (LVH): Rationale, potential and challenges |
title_sort |
The utility of copy number variation (CNV) in studies of hypertension-related left ventricular hypertrophy (LVH): Rationale, potential and challenges |
publishDate |
2013 |
container_title |
Molecular Cytogenetics |
container_volume |
6 |
container_issue |
1 |
doi_str_mv |
10.1186/1755-8166-6-8 |
url |
https://www.scopus.com/inward/record.uri?eid=2-s2.0-85040956304&doi=10.1186%2f1755-8166-6-8&partnerID=40&md5=5583275bb21358787182d473b93566b6 |
description |
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). © 2013 BoonPeng and Yusoff; licensee BioMed Central Ltd. |
publisher |
BioMed Central Ltd. |
issn |
17558166 |
language |
English |
format |
Review |
accesstype |
All Open Access; Gold Open Access |
record_format |
scopus |
collection |
Scopus |
_version_ |
1809678162018172928 |