<i>ABCB1</i> gene is associated with the risk of bullous pemphigoid in a polish population

Rychlik‐Sych, Mariola; Barańska, Małgorzata; Dudarewicz, Michał; Skrętkowicz, Jadwiga; Żebrowska, Agnieszka; Owczarek, Jacek; Waszczykowska, Elżbieta

doi:10.1111/ddg.13182

Cited by 5 publications

(3 citation statements)

References 32 publications

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“…ABCB1 overexpression resulted in increased resistance of the LLC-PK1 cells to tacrolimus, cyclosporine A, sirolimus and everolimus [19]. Polymorphisms in the ABCB1 gene have been found to be associated with a susceptibility to ulcerative colitis [20][21][22][23][24][25], Parkinson's disease [26][27][28], Alzheimer's disease [29,30], cancer [31][32][33][34][35], bullous pemphigoid [36,37], the osteonecrosis of the femoral head [38,39], major depressive disorder [40][41][42] and ischemic strokes [43]. A meta-analysis demonstrated an association between the ABCB1 C3435T polymorphic variant and the dose-adjusted concentration of cyclosporine after a kidney transplantation [44].…”

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confidence: 99%

Pharmacogenetic Study of the Impact of ABCB1 Single Nucleotide Polymorphisms on the Response to Cyclosporine in Psoriasis Patients

et al. 2022

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Psoriasis is a chronic, T cell-mediated skin disease affecting 2–3% of the Caucasian population. Cyclosporine A is a calcineurin inhibitor that acts selectively on T cells. The cyclosporine A treatment response has been suggested to be modulated by single-nucleotide polymorphisms (SNPs) in the ABCB1 gene. The aim of this research was to evaluate the effect of ABCB1 genetic variants that could affect the response to a cyclosporine treatment in Russian psoriasis patients with the ABCB1 genotype status. The ABCB1 T-129C, G1199A, C1236T, G2677T/A and C3435T SNPs in the 168 patients with psoriasis were genotyped by PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) and TaqMan SNP genotyping assays. The ABCB1 C1236T, G2677T/A and C3435T SNPs were significantly associated with a negative response to cyclosporine therapy. A very strong association was evident for the C3435T SNP in the ABCB1 gene in the allele, dominant and recessive models (OR = 2.58, OR = 4.01, OR = 2.50, respectively). ABCB1 C1236T and G2677T/A polymorphisms were significantly associated with a negative response to the cyclosporine therapy in the codominant, dominant and recessive models (p ˂ 0.05). Additionally, the haplotype analysis identified that the TGC haplotype is significantly associated with a negative response to cyclosporine therapy in psoriasis patients (p ˂ 0.05). The current study to the best of our knowledge is the first of its kind to be performed in the Russian population. In conclusion, the present results suggest an association between the ABCB1 genetic variants and unresponsiveness to cyclosporine in the Russian population. Further, larger studies are necessary to confirm our findings and replicate them in various ethnic populations before its implementation in the clinical practice.

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Section: Introductionmentioning

confidence: 99%

Pharmacogenetic Study of the Impact of ABCB1 Single Nucleotide Polymorphisms on the Response to Cyclosporine in Psoriasis Patients

et al. 2022

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“…Genetic polymorphisms of P-gp might affect not only the effectiveness of treatment with drugs that are P-gp substrates, but also contribute to the development of diseases [ 2 , 5 , 9 , 27 , 32 , 44 , 45 ].…”

Section: Introductionmentioning

confidence: 99%

Haplotypes of ABCB1 1236C >T (rs1128503), 2677G >T/A (rs2032582), and 3435C >T (rs1045642) in patients with bullous pemphigoid

et al. 2018

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Bullous pemphigoid (BP) constitutes the most prevalent disease in the group of bullous dermatoses with the autoimmune background. Some authors suggest that certain cytokines (IL-2, IFN-γ) may be transported by P-glycoprotein (P-gp), the product of the ABCB1 gene. ABCB1 polymorphism might affect not only the effectiveness of treatment with drugs that are P-gp substrates but also contribute to the development of diseases, including BP. In the present work, we resolved to conduct a haplotype analysis of ABCB1 in patients with BP and to answer the question of whether any of the haplotypes are able to affect the incidence of this entity. The study involved 71 patients with BP and 100 healthy volunteers. Determination of polymorphisms 1236C > T and 3435C > T in ABCB1 was carried out with the PCR–RFLP (Polymerase Chain Reaction–Restriction Fragment Length Polymorphism) method. The 2677G > T/A ABCB1 polymorphism was analyzed with the allele-specific PCR method. It was observed that the 1236T-2677G-3435T haplotype occurred with a statistically significantly lower frequency in patients with BP than in controls (1.4 vs. 10.0%). Carriers of this haplotype were also shown to have had a low relative risk for BP (OR = 0.13, p = 0.003). Haplotype analysis of ABCB1 conducted in patients with BP demonstrated that the 1236T-2677G-3435T haplotype may protect against development of this entity.

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“…Wie werden die Auto‐Antigene eigentlich zu den antigenpräsentierenden Zellen transportiert? Auf diese Frage könnte eine humangenetische Untersuchung von Mariola Rychlik‐Sych in diesem JDDG Heft eine mögliche Antwort geben . Die Autorengruppe untersuchte Polymorphismen im Transporter Gen ABCB1, das für das P‐Glycoprotein kodiert, bei 71 Patienten mit BP und 156 Kontrollen und konnten eine sehr starke Assoziation mit einer Odds Ratio von 5,52 für Individuen mit dem G2677T/A Genotyp zeigen.…”

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Ist das bullöse Pemphigoid eine verkappte Genodermatose?

Traupe

2017

J Deutsche Derma Gesell

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ABCB1 gene is associated with the risk of bullous pemphigoid in a polish population

Abstract: The results of the present study indicate that the G2677T/A polymorphism in the ABCB1 gene may affect the risk of developing BP.

Cited by 5 publications

References 32 publications

Pharmacogenetic Study of the Impact of ABCB1 Single Nucleotide Polymorphisms on the Response to Cyclosporine in Psoriasis Patients

Pharmacogenetic Study of the Impact of ABCB1 Single Nucleotide Polymorphisms on the Response to Cyclosporine in Psoriasis Patients

Haplotypes of ABCB1 1236C >T (rs1128503), 2677G >T/A (rs2032582), and 3435C >T (rs1045642) in patients with bullous pemphigoid

Ist das bullöse Pemphigoid eine verkappte Genodermatose?

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