MDR1 gene polymorphisms may be associated with Behçet's disease and its colchicum treatment response

Rüstemoğlu, Aydın; Gül, Ülker; Gümüş-Akay, Güvem; Gönül, Müzeyyen; Yığıt, Serbülent; Bozkurt, Nihan; Karadağ, Aynur; Pişkin, Emine; Sunguroğlu, Asuman; Kadıkıran, Ahmet

doi:10.1016/j.gene.2012.05.040

Cited by 17 publications

(10 citation statements)

References 29 publications

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“…However, the CT genotype at the C3435T locus was more common in infertile men with high levels of sperm DNA damage (P = 0.02). The frequencies of the MDR1 1236 and 3435 alleles and genotypes determined in our control group were in agreement with those reported in previous studies conducted in the Turkish population (Gümüş-Akay et al, 2010, Dogu et al, 2012Rüstemoğlu et al, 2012).…”

Section: Discussionsupporting

confidence: 92%

Association of MDR1 C3435T and C1236T single nucleotide polymorphisms with male factor infertility

Karadağ

Özkan

et al. 2015

Genet. Mol. Res.

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ABSTRACT. Infertility affects 1 in 6 couples and approximately 1 in 25 men. Male factor infertility is a major cause of spermatogenic anomalies, the causes of which are largely unknown. Impaired reproductive functions in men might result from physiological, genetic, and/or environmental factors such as xenobiotics. The multi-drug resistance1 (MDR1) gene encodes a P-glycoprotein which has a role in the active transport of various substrates providing protection of somatic cells from potentially toxic substances, including xenobiotics. MDR1 is highly expressed at the luminal surface of capillary endothelial cells, and is expressed in Leydig cells, testicular macrophages, and Sertoli cells. We performed genotype and haplotype analyses of MDR1 in 192 infertile and 102 fertile Turkish men for the genetic markers C1236T and C3435T, using polymerase chain reaction-restriction fragment length polymorphism analysis. In the overall population, correlations were analyzed in all genotype models. We found that the C3435T polymorphism TT vs CT genotypes showed statistically significant differences in their association with infertility (P = 0.045), and that the CT genotype was associated with high sperm DNA damage (P = 0.02), suggesting that the CT genotype might be a susceptibility factor for infertility. Additionally, the T-T haplotype was significantly more frequent in the control group (13.2 vs 6.5%; odds ratio = 0.459, 95%CI = 0.259-0.814, P = 0.006). This study showed that MDR1 might have a role in male infertility. Further research in large cohorts with different populations is required to clarify the role of MDR in male fertility.

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Section: Discussionsupporting

confidence: 92%

Association of MDR1 C3435T and C1236T single nucleotide polymorphisms with male factor infertility

Karadağ

Özkan

et al. 2015

Genet. Mol. Res.

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“…In some previous studies, association between MDR1 C3435T polymorphisms and BD has been reported. However, consistent with other results reported in the Turkish population, our results show no association between genotypic and allelic frequencies of the MDR1 C3435T polymorphisms in patients with BD and the healthy control group ( P > 0.05).…”

Section: Discussionsupporting

confidence: 91%

MDR1 C3435T polymorphism associated with the development of clinical features in Behçet's disease in Iranian Azeri Turkish patients

2014

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“…The P-gp/MDR1 gene is highly polymorphic with more than 70 single nucleotide polymorphisms (SNPs) defined to date [50]. Polymorphisms of the MDR1 gene have been shown to change both the expression level and function of P-gp, and might be associated with colchicine resistance in some small sample studies in FMF [51][52][53] and BD [54]; but not in all studies [55][56]. In general, further studies with a larger sample size are needed to better understand the role of MDR1 gene polymorphisms in the colchicine response of patients with different conditions.…”

Section: Resultsmentioning

confidence: 99%

Colchicine—Update on mechanisms of action and therapeutic uses

Leung

Hui

Kraus

2015

Seminars in Arthritis and Rheumatism

714

559

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Objectives To review the literature and provide an updates on the mechanisms of action and therapeutic uses of oral colchicine in arthritis and inflammatory conditions. Methods We performed PubMed database searches through June 2014 for relevant studies in the English literature published since the last update of colchicine in 2008. Searches encompassed colchicine mechanisms of action and clinical applications in medical conditions. A total of 381 articles were reviewed. Results The primary mechanism of action of colchicine is tubulin disruption. This leads to subsequent down regulation of multiple inflammatory pathways and modulation of innate immunity. Newly described mechanisms include various inhibitory effects on macrophages including the inhibition of the NACHT-LRRPYD-containing protein 3 (NALP3) inflammasome, inhibition of pore formation activated by purinergic receptors P2X7 and P2X2, and stimulation of dendritic cell maturation and antigen presentation. Colchicine also has anti-fibrotic activities and various effects on endothelial function. The therapeutic use of colchicine has extended beyond gouty arthritis and Familial Mediterranean Fever, to osteoarthritis, pericarditis and atherosclerosis. Conclusion Further understanding of the mechanisms of action underlying the therapeutic efficacy of colchicine will lead to its potential use in a variety of conditions.

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MDR1 gene polymorphisms may be associated with Behçet's disease and its colchicum treatment response

Cited by 17 publications

References 29 publications

Association of MDR1 C3435T and C1236T single nucleotide polymorphisms with male factor infertility

Association of MDR1 C3435T and C1236T single nucleotide polymorphisms with male factor infertility

MDR1 C3435T polymorphism associated with the development of clinical features in Behçet's disease in Iranian Azeri Turkish patients

Colchicine—Update on mechanisms of action and therapeutic uses

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