Pharmacogenomic assessment of Mexican and Peruvian populations

Abstract

Background: Clinically relevant polymorphisms often demonstrate population-specific allele frequencies. Central and South America remain largely uncategorized in the context of pharmacogenomics.

Materials & methods: We assessed 15 polymorphisms from 12 genes (ABCB1 3435C>T, ABCG2 Q141K, CYP1B1*3, CYP2C19*2, CYP3A4*1B, CYP3A5*3C, ERCC1 N118N, ERCC2 K751Q, GSTP1 I105V, TPMT 238G>C, TPMT 460G>A, TPMT 719A>G, TYMS TSER, UGT1A1*28 and UGT1A1 -3156G>A) in 81 Peruvian and 95 Mexican individuals.

Results: Six polymorphism frequencies differed significantly between the two populations: ABCB1 3435C>T, CYP1B1*3, GSTP1 I105V, TPMT 460G>A, UGT1A1*28 and UGT1A1 -3156G>A. The pattern of observed allele frequencies for all polymorphisms could not be accurately estimated from any single previously studied population.

Conclusion: This highlights the need to expand the scope of geographic data for use in pharmacogenomics studies.

Keywords: Hispanic; Mexico; Peru; genotype; pharmacogenomics; polymorphism; population.

Figure 1. TPMT allele frequency (combined *2, *3A, *3B and *3C) distribution in North and South America [–59]

USA Caucasian (blue) represents the reference frequency (0.04) [56]. Green = between 0.5 and 2× the reference frequency, yellow = allele frequencies greater than 2× the reference frequency, gray = unknown frequency. Allele frequencies are listed in Supplementary Table 1.