Copy Number Variants in pharmacogenetic genes
Identifieur interne : 004187 ( Ncbi/Checkpoint ); précédent : 004186; suivant : 004188Copy 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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