Ethnic Differences in Pharmacogenetically Relevant Genes

There is great heterogeneity in the way humans respond to medications, often requiring empirical strategies to define the appropriate drug therapy for each patient. Genetic polymorphisms in drug metabolizing enzymes, transporters, receptors, and other drug targets provide putative markers for predicting which patients will experience extreme toxicity and treatment failure. Both quantitative (allele frequency) and qualitative (specific allele) differences for polymorphic genes have been observed between different population groups. For example, the frequency of mutations in thiopurine methyltransferase is lower in Chinese than Caucasian populations. In addition, the predominant mutation responsible for deficient enzyme activity differs between the two populations (TPMT*3C versus TPMT*3A). Understanding the influence of ethnicity on pharmacogenomics will allow for comprehensive strategies for using the genome to optimize therapy for patients throughout the world.