ABCB1 single nucleotide polymorphisms in the 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.
Laboratório de Hematologia Celular e Molecular, Serviço de Hematologia, Instituto Nacional de Câncer HC-I, Praça Cruz Vermelha 23, Rio de Janeiro, Brazil. mamscheiner@hotmail.com
Marcos Antonio Mauricio
MA
Scheiner
Arthur Motta
AM
Damasceno
Raquel Ciuvalschi
RC
Maia
D018435:ATP Binding Cassette Transporter, Subfamily B; D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1 / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D001938:Brazil; D004252:DNA Mutational Analysis; D005006:Ethnicity / Q000235:genetics; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012727:Sex Characteristics; D055815:Young Adult
C513055:ABCB1 protein, human; D018435:ATP Binding Cassette Transporter, Subfamily B; D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1