Frequency of genetic polymorphisms of PXR gene in the Brazilian population

Authors

  • Ricardo P. P. Moreira Universidade de São Paulo; Faculdade de Medicina; Laboratório de Hormônios e Genética Molecular LIM 42; Unidade de Endocrinologia do Desenvolvimento
  • Alexander A. L. Jorge Universidade de São Paulo; Faculdade de Medicina; Unidade de Endocrinologia Genética LIM 25
  • Berenice B. Mendonca Universidade de São Paulo; Faculdade de Medicina; Laboratório de Hormônios e Genética Molecular LIM 42; Unidade de Endocrinologia do Desenvolvimento
  • Tânia A. S. S. Bachega Universidade de São Paulo; Faculdade de Medicina; Laboratório de Hormônios e Genética Molecular LIM 42; Unidade de Endocrinologia do Desenvolvimento

DOI:

https://doi.org/10.1590/S1807-59322011000600020

Keywords:

Pharmacogenetics, Allelic distribution, Brazilian population, Genetic variation

Abstract

INTRODUCTION: PXR polymorphisms have been implicated in modulating CYP3A4 and PXR expression, potentially accounting for interindividual differences in drug metabolism. The prevalence of PXR polymorphisms varies among ethnic groups and data on the allelic distribution in the highly mixed Brazilian population is lacking. The aim of this study was to analyze genetic variations in the PXR gene in Brazilians and to compare the results to other ethnic groups. METHODS: DNA samples from 117 healthy Brazilians underwent PCR amplification and sequencing. RESULTS: Eleven polymorphisms were identified, 3 of which are highly associated with differences in CYP3A4 expression. We also identified 1 new synonymous variant in 1.3% of the alleles. Among the functional polymorphisms, -25913 C>T and -6994T>C occurred at a higher frequency comparedtothe Africanalleles (p < 0.05) but at a lower frequency compared to Caucasian alleles. The 8055 C>T allele was found at a similar frequency to those described in Caucasians and Africans (p > 0.05). CONCLUSION: We observed that functional variants of the PXR were frequent in our sample of the Brazilian population. Our results suggest that PXR gene variants may be of interest in pharmacogenetic studies involving Brazilians.

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Published

2011-01-01

Issue

Section

Clinical Sciences

How to Cite

Moreira, R. P. P., Jorge, A. A. L., Mendonca, B. B., & Bachega, T. A. S. S. (2011). Frequency of genetic polymorphisms of PXR gene in the Brazilian population . Clinics, 66(6), 1041-1044. https://doi.org/10.1590/S1807-59322011000600020