ABCB1 single nucleotide polymorphisms in the Brazilian population

作者：Mauricio Scheiner Marcos Antonio; Damasceno Arthur Motta; Maia Raquel Ciuvalschi^*

来源：Molecular Biology Reports, 2010, 37(1): 111-118.

DOI：10.1007/s11033-009-9547-x

• ABCB1 gene
• Polymorphisms
• P-glycoprotein
• Brazilian population

The ABCB1/MDR-1 gene, which encodes P-glycoprotein, is highly polymorphic. We analyzed 278 healthy Brazilian individuals through PCR-RFLP to identify ABCB1 variants and determine the genotypic and allelic frequencies. Genotypic frequencies for C1236T (rs1128503) were 0.31 for CC, 0.60 for CT and 0.09 for TT and allelic frequencies were 0.61 and 0.39 for C and T, respectively. Genotypic frequencies for C3435T (rs1045642) were 0.24 for CC, 0.61 for CT and 0.15 for TT, and allelic frequencies were 0.55 and 0.45 for C and T, respectively. Both variants showed significant differences in genotypic frequencies for both studied regions. Gender comparisons did not show significant differences between genotypes at both sites. Significant differences were observed between C1236C and C3435T and also C1236C and C3435C. Comparisons between ABCB1 polymorphisms in Brazilians and other populations show significant differences. The understanding of the effects of several drugs associated to these variants may help an individualized treatment in clinical practice.

• 出版日期2010-1