ABCB1 C1236T, G2677T/A and C3435T polymorphisms in systemic lupus erythematosus patients
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 af...
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| Format: | Article |
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Associação Brasileira de Divulgação Científica
2008-09-01
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| Series: | Brazilian Journal of Medical and Biological Research |
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| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008000900005 |
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| author | T.P. Gonzalez T. Mucenic J.C.T. Brenol R.M. Xavier M. Schiengold J.A.B. Chies |
| author_facet | T.P. Gonzalez T. Mucenic J.C.T. Brenol R.M. Xavier M. Schiengold J.A.B. Chies |
| author_sort | T.P. Gonzalez |
| collection | DOAJ |
| description | 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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| format | Article |
| id | doaj.art-a10f332281d14f59bb944d14e39a89a7 |
| institution | Directory Open Access Journal |
| issn | 0100-879X 1414-431X |
| language | English |
| last_indexed | 2024-04-12T07:12:57Z |
| publishDate | 2008-09-01 |
| publisher | Associação Brasileira de Divulgação Científica |
| record_format | Article |
| series | Brazilian Journal of Medical and Biological Research |
| spelling | doaj.art-a10f332281d14f59bb944d14e39a89a72022-12-22T03:42:35ZengAssociação Brasileira de Divulgação CientíficaBrazilian Journal of Medical and Biological Research0100-879X1414-431X2008-09-01419769772ABCB1 C1236T, G2677T/A and C3435T polymorphisms in systemic lupus erythematosus patientsT.P. GonzalezT. MucenicJ.C.T. BrenolR.M. XavierM. SchiengoldJ.A.B. ChiesP-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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008000900005ABCB1MDR1P-glycoproteinPolymorphismSystemic lupus erythematosus |
| spellingShingle | T.P. Gonzalez T. Mucenic J.C.T. Brenol R.M. Xavier M. Schiengold J.A.B. Chies ABCB1 C1236T, G2677T/A and C3435T polymorphisms in systemic lupus erythematosus patients Brazilian Journal of Medical and Biological Research ABCB1 MDR1 P-glycoprotein Polymorphism Systemic lupus erythematosus |
| title | ABCB1 C1236T, G2677T/A and C3435T polymorphisms in systemic lupus erythematosus patients |
| title_full | ABCB1 C1236T, G2677T/A and C3435T polymorphisms in systemic lupus erythematosus patients |
| title_fullStr | ABCB1 C1236T, G2677T/A and C3435T polymorphisms in systemic lupus erythematosus patients |
| title_full_unstemmed | ABCB1 C1236T, G2677T/A and C3435T polymorphisms in systemic lupus erythematosus patients |
| title_short | ABCB1 C1236T, G2677T/A and C3435T polymorphisms in systemic lupus erythematosus patients |
| title_sort | abcb1 c1236t g2677t a and c3435t polymorphisms in systemic lupus erythematosus patients |
| topic | ABCB1 MDR1 P-glycoprotein Polymorphism Systemic lupus erythematosus |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008000900005 |
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