The MDR1 3435 polymorphism in patients with rheumatoid arthritis

Pawlik, Andrzej; Wrześniewska, Joanna; Fiedorowicz-Fabrycy, I; Gawrońska-Szklarz, B

doi:10.5414/cpp42496

Cited by 93 publications

(60 citation statements)

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“…No differences in the frequency of FcgRIIA-131R or FcgRIIA-131H genotypes were observed between the normal donors and the RA subjects, which is consistent with previous reports. 32 Frequency of CD32 expression on NK cells from RA and normal individuals The expression of CD16 and CD32 on NK cells (CD56 pos ) from RA subjects and normal individuals was determined by two-color flow cytometry as described in the Methods. A representative two-color plot is shown in Figure 1 FccR expression on NK cells in rheumatoid arthritis AM Stewart-Akers et al CD32 negative (Figure 2b).…”

Section: Clinical Features Of Ra Patients In This Studymentioning

confidence: 99%

FcγR expression on NK cells influences disease severity in rheumatoid arthritis

et al. 2004

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Section: Clinical Features Of Ra Patients In This Studymentioning

confidence: 99%

FcγR expression on NK cells influences disease severity in rheumatoid arthritis

et al. 2004

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“…The polymorphism C3435T has been analyzed in rheumatoid arthritis in Polish individuals (17) and no differences were observed in genotypic or allelic frequencies compared to healthy subjects. These data suggest that these ABCB1 polymorphisms are not risk factors for the development of these diseases, although more research is necessary to clearly establish whether this is also true for other autoimmune diseases.…”

Section: Discussionmentioning

confidence: 99%

ABCB1 C1236T, G2677T/A and C3435T polymorphisms in systemic lupus erythematosus patients

Gonzalez

Mucenic

Brenol

et al. 2008

Braz J Med Biol Res

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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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“…A recent study on the ABCB1 gene has found that patients with the 3435CC and 3435CT genotypes had a greater risk of having active RA compared with patients with the 3435TT genotype. The 3435T allele also seemed to confer a protective effect, with patients homozygous for this allele having a less severe form of RA that was more likely to respond to MTX and prednisone (Pawlik et al 2004). Genetic variations in other members of the ABC family are quite common and shall be explored in the context of RA and MTX treatment.…”

Section: Pharmacogenetics -The Case For Rheumatoid Arthritismentioning

confidence: 99%

Future perspective for diagnosis in autoimmune diseases

Andrade

2009

An. Acad. Bras. Ciênc.

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Human beings have taken successive approaches for the understanding and management of diseases. Initially brewed in supernatural concepts and mystical procedures, a vigorous scientific approach has emerged on the grounds of fundamental disciplines such as anatomy, microbiology, biochemistry, physiology, immunology, pathology, and pharmacology. The resulting integrated knowledge contributed to the current classification of diseases and the way Medicine is carried out today. Despite considerable progress, this approach is rather insufficient when it comes to systemic inflammatory conditions, such as systemic lupus erythematosus, that covers clinical conditions ranging from mild pauci-symptomatic diseases to rapidly fatal conditions. The treatment for such conditions is often insufficient and novel approaches are needed for further progress in these areas of Medicine. A recent breakthrough has been achieved with respect to chronic auto-inflammatory syndromes, in which molecular dissection of underlying gene defects has provided directions for target-oriented therapy. Such approach may be amenable to application in systemic auto-immune diseases with the comprehension that such conditions may be the consequence of interaction of specific environmental stimuli and an array of several and interconnected gene polymorphisms. On the bulk of this transformation, the application of principles of pharmacogenetics may lead the way towards a progressively stronger personalized Medicine.Key words: autoimmunity, pharmacogenetics, gene polymorphism, auto-inflammatory diseases, systemic lupus erythematosus, rheumatoid arthritis. HISTORICAL PERSPECTIVE IN DIAGNOSIS PARADIGMSince ancient times, human beings have struggled to provide help to those suffering from the diverse illnesses that affect mankind and other living beings. Primitive paradigms were mainly based on instinct, mysticism and supernatural approaches. Dance rituals and magic medicines were the answer that those early professionals provided to the sufferers. With the advent of the early founders of the contemporary medical science in the Mediterranean area, a rational, observational and ethical approach was progressively established. Accordingly, the diagnostic and therapeutic approaches wereIn commemoration of the 75 th anniversary

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The MDR1 3435 polymorphism in patients with rheumatoid arthritis

Cited by 93 publications

References 0 publications

FcγR expression on NK cells influences disease severity in rheumatoid arthritis

FcγR expression on NK cells influences disease severity in rheumatoid arthritis

ABCB1 C1236T, G2677T/A and C3435T polymorphisms in systemic lupus erythematosus patients

Future perspective for diagnosis in autoimmune diseases

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