Copy Number Variants in pharmacogenetic genes
Identifieur interne : 002982 ( Pmc/Corpus ); précédent : 002981; suivant : 002983Copy Number Variants in pharmacogenetic genes
Auteurs : Yijing He ; Janelle M. Hoskins ; Howard L. McleodSource :
- Trends in molecular medicine [ 1471-4914 ] ; 2011.
Abstract
Variation in drug efficacy and toxicity remains an important clinical concern. Presently, single nucleotide polymorphisms (SNP) 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. Here we provide a comprehensive review of the clinical relevance of CNVs to drug efficacy, toxicity, disease prevalence in world populations and discuss the implication of using CNVs as diagnosis in clinical intervention.
Url:
DOI: 10.1016/j.molmed.2011.01.007
PubMed: 21388883
PubMed Central: 3092840
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PMC:3092840Le document en format XML
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<front><div type="abstract" xml:lang="en"><p id="P2">Variation in drug efficacy and toxicity remains an important clinical concern. Presently, single nucleotide polymorphisms (SNP) 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. Here we provide a comprehensive review of the clinical relevance of CNVs to drug efficacy, toxicity, disease prevalence in world populations and discuss the implication of using CNVs as diagnosis in clinical intervention.</p>
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<contrib-group><contrib contrib-type="author"><name><surname>He</surname>
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<contrib contrib-type="author"><name><surname>Hoskins</surname>
<given-names>Janelle M.</given-names>
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<contrib contrib-type="author"><name><surname>McLeod</surname>
<given-names>Howard L.</given-names>
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<xref rid="FN1" ref-type="author-notes">*</xref>
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<aff id="A1">UNC Institute for Pharmacogenomics and Individualized Therapy, University of North Carolina, Chapel Hill, NC, USA</aff>
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<author-notes><corresp id="FN1"><label>*</label>
Corresponding author: McLeod, HL (<email>hmcleod@unc.edu</email>
), UNC Institute for Pharmacogenomics and Individualized Therapy, University of North Carolina – Chapel Hill, Campus Box 7361, Rm 1096 Genetic Medicine Building, 120 Mason Farm Rd, Chapel Hill, NC 27599-7360, USA Phone: +1-919-966-0512, Fax: +1-919-966-5863</corresp>
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<permissions><copyright-statement>© 2011 Elsevier Ltd. All rights reserved.</copyright-statement>
<copyright-year>2011</copyright-year>
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<abstract><p id="P2">Variation in drug efficacy and toxicity remains an important clinical concern. Presently, single nucleotide polymorphisms (SNP) 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. Here we provide a comprehensive review of the clinical relevance of CNVs to drug efficacy, toxicity, disease prevalence in world populations and discuss the implication of using CNVs as diagnosis in clinical intervention.</p>
</abstract>
<kwd-group><kwd>pharmacogenetics</kwd>
<kwd>copy number variants</kwd>
<kwd>drug efficacy</kwd>
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<award-id>UL1 RR025747-04 || RR</award-id>
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<award-group><funding-source country="United States">National Institute of General Medical Sciences : NIGMS</funding-source>
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