- Title
- DNA copy number variations – Do these big mutations have a big effect on cardiovascular risk?
- Creator
- Prestes, Priscilla; Maier, Michelle; Charchar, Fadi
- Date
- 2019
- Type
- Text; Journal article; Editorial
- Identifier
- http://researchonline.federation.edu.au/vital/access/HandleResolver/1959.17/170955
- Identifier
- vital:14247
- Identifier
-
https://doi.org/10.1016/j.ijcard.2019.08.046
- Identifier
- ISBN:0167-5273
- Abstract
- In simple terms, copy number variations or CNVs are replications or deletions in the DNA which, in humans, changes it from the normal number of two gene copies. These CNVs are caused by inherited or de novo structural changes such as duplications, insertions or deletions of repeated portions of genetic material (Fig. 1). These duplications can vary from one to ten or more copies and range in size from 50 DNA base pairs to several million [1]. Since their discovery in 1987 by Nakamura et al. [2], when they were initially named variable number tandem repeats, many studies have investigated their association with rare and common human diseases. Throughout evolution, some of these changes in copy number were beneficial such as the globin gene number duplication, while others such as the CNVs that cause Huntington's disease were not. In 2004, two landmark studies by Iafrate et al. [3] and Sebat et al. [4] found that large-scale copy-number variations, ranging in size from 100 kb to 2 Mb are common throughout the human genome, and that a high proportion of them are in known genes. These findings roused several association studies between CNVs and disease
- Publisher
- Elsevier Ireland Ltd
- Relation
- International Journal of Cardiology Vol. 298, no. (2019), p. 116-117
- Rights
- Copyright 2020 Elsevier
- Rights
- This metadata is freely available under a CCO license
- Subject
- 1102 Cardiorespiratory Medicine and Haematology; 1117 Public Health and Health Services; High density lipoprotein; Low density lipoprotein; Body mass; cardiovascular risk; cohort analysis; copy number variation; coronary artery disease
- Full Text
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