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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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Copy Number Variants in pharmacogenetic genes</title><author><name sortKey="He, Yijing" sort="He, Yijing" uniqKey="He Y" first="Yijing" last="He">Yijing He</name></author><author><name sortKey="Hoskins, Janelle M" sort="Hoskins, Janelle M" uniqKey="Hoskins J" first="Janelle M." last="Hoskins">Janelle M. Hoskins</name></author><author><name sortKey="Mcleod, Howard L" sort="Mcleod, Howard L" uniqKey="Mcleod H" first="Howard L." last="Mcleod">Howard L. Mcleod</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">21388883</idno><idno type="pmc">3092840</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3092840</idno><idno type="RBID">PMC:3092840</idno><idno type="doi">10.1016/j.molmed.2011.01.007</idno><date when="2011">2011</date><idno type="wicri:Area/Pmc/Corpus">002982</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002982</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Copy Number Variants in pharmacogenetic genes</title><author><name sortKey="He, Yijing" sort="He, Yijing" uniqKey="He Y" first="Yijing" last="He">Yijing He</name></author><author><name sortKey="Hoskins, Janelle M" sort="Hoskins, Janelle M" uniqKey="Hoskins J" first="Janelle M." last="Hoskins">Janelle M. Hoskins</name></author><author><name sortKey="Mcleod, Howard L" sort="Mcleod, Howard L" uniqKey="Mcleod H" first="Howard L." last="Mcleod">Howard L. Mcleod</name></author></analytic><series><title level="j">Trends in molecular medicine</title><idno type="ISSN">1471-4914</idno><idno type="eISSN">1471-499X</idno><imprint><date when="2011">2011</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><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></div></front></TEI><pmc article-type="research-article" xml:lang="en"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
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<front><journal-meta><journal-id journal-id-type="nlm-journal-id">100966035</journal-id><journal-id journal-id-type="pubmed-jr-id">22040</journal-id><journal-id journal-id-type="nlm-ta">Trends Mol Med</journal-id><journal-title-group><journal-title>Trends in molecular medicine</journal-title></journal-title-group><issn pub-type="ppub">1471-4914</issn><issn pub-type="epub">1471-499X</issn></journal-meta><article-meta><article-id pub-id-type="pmid">21388883</article-id><article-id pub-id-type="pmc">3092840</article-id><article-id pub-id-type="doi">10.1016/j.molmed.2011.01.007</article-id><article-id pub-id-type="manuscript">NIHMS280772</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Copy Number Variants in pharmacogenetic genes</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>He</surname><given-names>Yijing</given-names></name></contrib><contrib contrib-type="author"><name><surname>Hoskins</surname><given-names>Janelle M.</given-names></name></contrib><contrib contrib-type="author"><name><surname>McLeod</surname><given-names>Howard L.</given-names></name><xref rid="FN1" ref-type="author-notes">*</xref></contrib><aff id="A1">UNC Institute for Pharmacogenomics and Individualized Therapy, University of North Carolina, Chapel Hill, NC, USA</aff></contrib-group><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></author-notes><pub-date pub-type="nihms-submitted"><day>18</day><month>3</month><year>2011</year></pub-date><pub-date pub-type="epub"><day>8</day><month>3</month><year>2011</year></pub-date><pub-date pub-type="ppub"><month>5</month><year>2011</year></pub-date><pub-date pub-type="pmc-release"><day>1</day><month>5</month><year>2012</year></pub-date><volume>17</volume><issue>5</issue><fpage>244</fpage><lpage>251</lpage><permissions><copyright-statement>© 2011 Elsevier Ltd. All rights reserved.</copyright-statement><copyright-year>2011</copyright-year></permissions><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><kwd>drug toxicity</kwd></kwd-group><funding-group><award-group><funding-source country="United States">National Center for Research Resources : NCRR</funding-source><award-id>UL1 RR025747-04 || RR</award-id></award-group><award-group><funding-source country="United States">National Institute of General Medical Sciences : NIGMS</funding-source><award-id>U01 GM063340-09 || GM</award-id></award-group></funding-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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