Genetic mapping of pharmacogenetic regulatory variation

Current Pharmaceutical Design
Benjamin A Raby

Abstract

The availability of high-throughput genotyping and sequencing platforms has largely removed technological barriers in the mapping the genetic determinants of drug response in human populations, and the set of validated pharmacogenetic variants is gradually increasing. Like the search for disease-susceptibility variation, however, many of the loci identified to date represent the relatively low-hanging fruit with large phenotypic effects but relatively low predictive power. Yet to be discovered is the larger set of variants, each with considerably weaker phenotypic effects, which together can be used to predict drug response more reliably and identify potential targets for novel drug development. Finding these pharmacogenetic variants is particularly challenging because sample size is typically far too small (and thus statistically underpowered) to detect genetic variants with weak effects. Studies of the genetics of gene expression (also described as expression quantitative locus (eQTL) mapping or genetical genomics) represent a novel approach for identification of functional genetic variants that influence gene expression. In these studies, individual gene transcript abundance as measured from expression microarrays are consid...Continue Reading

Citations

Jan 31, 2012·The Journal of Allergy and Clinical Immunology·Scott T Weiss
May 15, 2012·Wiley Interdisciplinary Reviews. Systems Biology and Medicine·Elliott AntmanJoseph Loscalzo
Oct 9, 2014·Annual Review of Pharmacology and Toxicology·Heung-Woo ParkScott T Weiss

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