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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Frequency of genetic polymorphisms of PXR gene in the Brazilian population

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Author(s):
Moreira, Ricardo P. P. [1] ; Jorge, Alexander A. L. [2] ; Mendonca, Berenice B. [1] ; Bachega, Tania A. S. S. [1]
Total Authors: 4
Affiliation:
[1] Univ Sao Paulo, Fac Med, Disciplina Endocrinol, Unidade Endocrinol Desenvolvimento, Lab Hormonios, Sao Paulo - Brazil
[2] Univ Sao Paulo, Fac Med, Disciplina Endocrinol, Unidade Endocrinol Genet LIM 25, Sao Paulo - Brazil
Total Affiliations: 2
Document type: Journal article
Source: Clinics; v. 66, n. 6, p. 1041-1044, 2011.
Web of Science Citations: 6
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. (AU)

FAPESP's process: 05/04726-0 - Molecular characterization of congenital endocrine diseases that affect growth and development
Grantee:Ana Claudia Latronico Xavier
Support Opportunities: Research Projects - Thematic Grants