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ABCB1 C1236T, G2677T/A and C3435T polymorphisms in systemic lupus erythematosus patients
Gonzalez, T. P; Mucenic, T; Brenol, J. C. T; Xavier, R. M; Schiengold, M; Chies, J. A. B.
  • Gonzalez, T. P; Universidade Federal do Rio Grande do Sul. Departamento de Genética. Porto Alegre. BR
  • Mucenic, T; Hospital de Clínicas de Porto Alegre. Divisão de Reumatologia. Porto Alegre. BR
  • Brenol, J. C. T; Hospital de Clínicas de Porto Alegre. Divisão de Reumatologia. Porto Alegre. BR
  • Xavier, R. M; Hospital de Clínicas de Porto Alegre. Divisão de Reumatologia. Porto Alegre. BR
  • Schiengold, M; Universidade Federal do Rio Grande do Sul. Departamento de Genética. Porto Alegre. BR
  • Chies, J. A. B; Universidade Federal do Rio Grande do Sul. Departamento de Genética. Porto Alegre. BR
Braz. j. med. biol. res ; 41(9): 769-772, Sept. 2008. tab
Article Dans Anglais | LILACS | ID: lil-492883
ABSTRACT
P-glycoprotein (Pgp), the ABCB1 gene product, acts as an efflux pump that transports a large variety of substrates and is a mechanism of cell protection against xenobiotics. An increasing number of studies have shown that some ABCB1 polymorphisms may affect Pgp expression and activity, as well as affecting the development and susceptibility to diseases and pharmacological response. High activity of Pgp has been detected in systemic lupus erythematosus (SLE) patients. The C1236T, G2677T/A, and C3435T are the most commonly studied single nucleotide polymorphisms in the ABCB1 gene. Therefore, their frequencies were determined in Brazilian individuals with European ancestry (N = 143) and in SLE patients (N = 137). Genotyping was performed by PCR-RFLP analysis using specific primers followed by incubation with the appropriate restriction enzymes. The resulting DNA fragments were visualized on agarose or polyacrylamide gels. No statistically significant differences were observed in allelic and genotypic frequencies between SLE and healthy subjects (Fisher exact test). Nevertheless, the 2677A allelic frequency was lower in SLE patients with malar rash (0.007) compared with patients without this feature (0.04; P = 0.0054), while the frequency of this variant was higher in SLE patients with pleuritis (0.07) compared with patients without this feature (0.01; P = 0.0156). We suggest that although the ABCB1 polymorphisms do not directly interfere in SLE susceptibility, their evaluation, especially the 2677A allele, in other immunological processes may be interesting since they can interfere in clinical features of this disease.
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Texte intégral: Disponible Indice: LILAS (Amériques) Sujet Principal: Glycoprotéine P / Polymorphisme de nucléotide simple / Lupus érythémateux disséminé Type d'étude: Étude observationnelle Limites du sujet: Adolescent / Adulte / Enfant / Enfant d'âge préscolaire / Femelle / Humains / Bébé / Mâle langue: Anglais Texte intégral: Braz. j. med. biol. res Thème du journal: Biologie / Médicament Année: 2008 Type: Article / descriptif de projet Pays d'affiliation: Brésil Institution/Pays d'affiliation: Hospital de Clínicas de Porto Alegre/BR / Universidade Federal do Rio Grande do Sul/BR

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Texte intégral: Disponible Indice: LILAS (Amériques) Sujet Principal: Glycoprotéine P / Polymorphisme de nucléotide simple / Lupus érythémateux disséminé Type d'étude: Étude observationnelle Limites du sujet: Adolescent / Adulte / Enfant / Enfant d'âge préscolaire / Femelle / Humains / Bébé / Mâle langue: Anglais Texte intégral: Braz. j. med. biol. res Thème du journal: Biologie / Médicament Année: 2008 Type: Article / descriptif de projet Pays d'affiliation: Brésil Institution/Pays d'affiliation: Hospital de Clínicas de Porto Alegre/BR / Universidade Federal do Rio Grande do Sul/BR