Journal
TRENDS IN MOLECULAR MEDICINE
Volume 17, Issue 5, Pages 244-251Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.molmed.2011.01.007
Keywords
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Funding
- National Institutes of Health Pharmacogenetics Research Network [U01 GM63340]
- University Cancer Research Fund
- National Center for Research Resources [UL1RR025747]
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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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