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Review
. 2011 May;17(5):244-51.
doi: 10.1016/j.molmed.2011.01.007. Epub 2011 Mar 8.

Copy number variants in pharmacogenetic genes

Yijing He  1 , Janelle M Hoskins, Howard L McLeod
Affiliations
Review

Copy number variants in pharmacogenetic genes

Yijing He et al. Trends Mol Med. 2011 May.

Abstract

Variation in drug efficacy and toxicity remains an important clinical concern. Presently, single nucleotide polymorphisms (SNPs) only explain a portion of this problem, even in situations where the pharmacological trait is clearly heritable. The Human CNV Project identified copy number variations (CNVs) across approximately 12% of the human genome, and these CNVs were considered causes of diseases. Although the contribution of CNVs to the pathogenesis of many common diseases is questionable, CNVs play a clear role in drug-related genes by altering drug metabolizing and drug response. In this review, we provide a comprehensive evaluation of the clinical relevance of CNVs to drug efficacy, toxicity, and disease prevalence in world populations, and discuss the implication of using CNVs as a diagnostic tool in clinical intervention.

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Conflict of interest statement

Conflicts of interest

Dr McLeod is a consultant to Medco Health Solutions, Gentris corportation, and Myriad Genetics.

Figures

Figure 1
Figure 1
A diagram for copy number variants in human genome. If the gene recombination event occurs between two genes, a gene duplication or multiplication (n=2,3..) or a gene deletion (n=0) could happen. A duplication of gene could also carry mutations from the original copy (show in red column).
Figure 2
Figure 2
A summary of CYP2D6 CNV structure[18]. (a) Functional CYP2D6 CNVs are shown in gold. (b) Duplication of CYP2D6 reduced activity or nonfunctional alleles are shown in dotted background. (c) Three forms of CYP2D6*36 allele. The first arrangement is considered as a CNV for this allele. (d) Deletion of CYP2D6 gene.
See this image and copyright information in PMC

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