Genotype and haplotype analysis of ABCB1 at 1236, 2677 and 3435 among systemic sclerosis patients

References

• Tamby MC, Chanseaud Y, Guillevin L, et al. New insights into the pathogenesis of systemic sclerosis. Autoimmun Rev. 2003;2:152–157.
   PubMed Web of Science ®Google Scholar
• De Martinis M, Ciccarelli F, Sirufo MM, et al. An overview of environmental risk factors in systemic sclerosis. Expert Rev Clin Immunol. 2016;12:465–478.
   PubMed Web of Science ®Google Scholar
• Sakkaz LI. New developments in the pathogenesis of systemic sclerosis. Autoimmunity. 2005;38:113–116.
   PubMed Web of Science ®Google Scholar
• Ferri C, Valentini G, Cozzi F, et al. Systemic Sclerosis Study Group of the Italian Society of Rheumatology (SIR-GSSSc). Systemic sclerosis: demographic, clinical, and serologic features and survival in 1,012 Italian patients. Medicine. 2002;81:139–153.
   PubMed Web of Science ®Google Scholar
• Preliminary criteria for the classification of systemic sclerosis (scleroderma). Subcommittee for scleroderma criteria of the American Rheumatism Association Diagnostic and Therapeutic Criteria Committee. Arthritis Rheum. 1980;23:581–590.
   PubMed Web of Science ®Google Scholar
• Kowal-Bielecka O, Landewe R, Avouac J, et al EUSTAR Co-Authors. EULAR recommendations for the treatment of systemic sclerosis: a report from the EULAR Scleroderma Trials and Research group (EUSTAR). Ann Rheum Dis. 2009;68:620–628.
   PubMed Web of Science ®Google Scholar
• Panczyk M, Sałagacka A, Mirowski M. MDR1 (ABCB1) gene encoding glycoprotein P (P-gp), a member of ABC transporter superfamily: consequences for therapy and progression of neoplastic diseases. Postepy Biochem. 2007;53:361–373. [Article in Polish].
   PubMedGoogle Scholar
• Pechandova K, Buzkova H, Slanar O, et al. Polymorphisms of the MDR1 gene in the Czech population. Folia Biol. 2006;52:184–189.
   PubMed Web of Science ®Google Scholar
• Kurzawski M, Pawlik A, Górnik W, et al. Frequency of common MDR1 gene variants in a Polish population. Pharmacol Rep. 2006;58:35–40.
   PubMed Web of Science ®Google Scholar
• Milojkovic M, Stojnev S, Jovanovic I, et al. Frequency of the C1236T, G2677T/A and C3435T MDR1 gene polymorphisms in the Serbian population. Pharmacol Rep. 2011;63:808–814.
   PubMed Web of Science ®Google Scholar
• Sipeky C, Csongei V, Jaromi L, et al. Genetic variability and haplotype profile of MDR1 (ABCB1) in Roma and Hungarian population samples with a review of the literature. Drug Metab Pharmacokinet. 2011;26:206–215.
   PubMed Web of Science ®Google Scholar
• Cascorbi I, Gerloff T, Johne A, et al. Frequency of single nucleotide polymorphisms in the P-glycoprotein drug transporter MDR1 gene in white subjects. Clin Pharmacol Ther. 2001;69:169–174.
   PubMed Web of Science ®Google Scholar
• Park SW, Lomri N, Simeoni LA, et al. Analysis of P-glycoprotein–mediated membrane transport in human peripheral blood lymphocytes using the UIC2 shift assay. Cytometry A. 2003;53:67–78.
   PubMed Web of Science ®Google Scholar
• Stephens M, Smith NJ, Donnelly P. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet. 2001;68:978–989.
   PubMed Web of Science ®Google Scholar
• Stephens M, Scheet P. Accounting for decay of linkage disequilibrium in haplotype inference and missing-data imputation. Am J Hum Genet. 2005;76:449–462.
   PubMed Web of Science ®Google Scholar
• Mickley LA, Lee JS, Weng Z, et al. Genetic polymorphism in MDR-1: a tool for examining allelic expression in normal cells, unselected and drug-selected cell lines, and human tumors. Blood. 1998;91:1749–1756.
   PubMed Web of Science ®Google Scholar
• Kerb, R. Implications of genetic polymorphisms in drug transporters for pharmacotherapy. Cancer Lett. 2006;234:4–33.
   PubMed Web of Science ®Google Scholar
• Jamroziak K, Balcerczak E, Młynarski W, et al. Distribution of allelic variants of functional C3435T polymorphism of drug transporter MDR1 gene in a sample of Polish population. Pol J Pharmacol. 2002;54:495–500.
   PubMedGoogle Scholar
• Kimchi-Sarfaty C, Oh JM, Kim LW, et al. A “silent” polymorphism in the MDR1 gene changes substrate specificity. Science. 2007;315:525–528.
   PubMed Web of Science ®Google Scholar
• Hoffmeyer S, Burk O, von Richter O, et al. Functional polymorphisms of the human multidrug-resistance gene: multiple sequence variations and correlation of one allele with P-glycoprotein expression and activity in vivo. Proc Natl Acad Sci U S A. 2000;97:3473–3478.
   PubMed Web of Science ®Google Scholar
• Potocnik U, Ferkolj I, Glavac D, Dean M. Polymorphisms in multidrug resistance 1 (MDR1) gene are associated with refractory Crohn disease and ulcerative colitis. Genes Immun. 2004;5:530–539.
   PubMed Web of Science ®Google Scholar
• Panczyk M, Balcerczak E, Piaskowski S ,et al. ABCB1 gene polymorphisms and haplotype analysis in colorectal cancer. Int J Colorectal Dis. 2009;24:895–905.
   PubMed Web of Science ®Google Scholar
• Martinelli M, Scapoli L, Cura F, et al. Colorectal cancer susceptibility: apparent gender-related modulation by ABCB1 gene polymorphisms. J Biomed Sci. 2014;21:89–97.
   PubMed Web of Science ®Google Scholar
• Wu H, Kang H, Liu Y, et al. Roles of ABCB1 gene polymorphisms and haplotype in susceptibility to breast carcinoma risk and clinical outcomes. J Cancer Res Clin Oncol. 2012;138:1449–1462.
   PubMed Web of Science ®Google Scholar
• Pongstaporn W, Pakakasama S, Chaksangchaichote P, et al. MDR1 C3435T and C1236T polymorphisms: association with high-risk childhood acute lymphoblastic leukemia. Asian Pac J Cancer Prev. 2015;16:2839–2843.
   PubMedGoogle Scholar
• Jamroziak K, Balcerczak E, Smolewski P, et al. MDR1 (ABCB1) gene polymorphism C3435T is associated with P-glycoprotein activity in B-cell chronic lymphocytic leukemia. Pharmacol Rep. 2006;58:720–728.
   PubMed Web of Science ®Google Scholar
• Yaya K, Hind D, Meryem Q, et al. Single nucleotide polymorphisms of multidrug resistance gene 1 (MDR1) and risk of chronic myeloid leukemia. Tumor Biol. 2014;35:10969–10975.
   PubMed Web of Science ®Google Scholar
• Ho GT, Nimmo ER, Tenesa A, et al. Allelic variations of the multidrug resistance gene determine susceptibility and disease behavior in ulcerative colitis. Gastroenterology. 2005;128:288–296.
   PubMed Web of Science ®Google Scholar
• FiedlerT, Büning C, Reuter W, et al. Possible role of MDR1 two-locus genotypes for young-age onset ulcerative colitis but not Crohn's disease. Eur J Clin Pharmacol. 2007;63:917–925.
   PubMed Web of Science ®Google Scholar
• Urcelay E, Mendoz JL, Martín MC, et al. MDR1 gene: susceptibility in Spanish Crohn's disease and ulcerative colitis patients. Inflamm Bowel Dis 2006;12:33–37.
   PubMed Web of Science ®Google Scholar
• Kurzinski K, Torok KS. Cytokine profiles in localized scleroderma and relationship to clinical features. Cytokine. 2011;55:157–164.
   PubMed Web of Science ®Google Scholar
• Gu YS, Kong J, Cheema GS, et. al. The immunobiology of systemic sclerosis. Semin Arthritis Rheum. 2008;38:132–160.
   PubMed Web of Science ®Google Scholar
• Aouali N, Eddabra L, Macadre J, et al. Immunosuppressors and reversion of multidrug-resistance. Crit Rev Oncol Hematol. 2005;56:61–70.
   PubMed Web of Science ®Google Scholar
• Garcia-Carrasco M, Mendoza-Pinto C, Diaz SM, et al. P-glycoprotein in autoimmune rheumatic diseases. Autoimmun Rev. 2015;14:594–600.
   PubMed Web of Science ®Google Scholar
• Maillefert JF, Maynadie M, Tebib JG, et al. Expression of the multidrug resistance glycoprotein 170 in the peripheral blood lymphocytes of rheumatoid arthritis patients. The percentage of lymphocytes expressing glycoprotein 170 is increased in patients treated with prednisolone. Br J Rheumatol. 1996;35:430–435.
   PubMedGoogle Scholar
• Yudoh K, Matsuno H, Nakazawa F, et al. Increased expression of multidrug resistance of P-glycoprotein on Th1 cells correlates with drug resistance in rheumatoid arthritis. Arthritis Rheumatol. 1999;42:2014–2015.
   PubMed Web of Science ®Google Scholar
• GonzalezTP, Mucenic T, Brenol JC, et al. ABCB1 C1236T, G2677T/A and C3435T polymorphisms in systemic lupus erythematosus patients. Braz J Med Biol Res. 2008;41:769–772.
   PubMed Web of Science ®Google Scholar
• Wang J, Liu Y, Zhao J, et al. P-glycoprotein gene MDR1 polymorphisms and susceptibility to systemic lupus erythematosus in Guangxi population: a case-control study. Rheumatol Int. 2017;37:537–545.
   PubMed Web of Science ®Google Scholar
• Pawlik A, Wrześniewska J, Fiedorowicz-Fabrycy I, Gawrońska-Szklarz B. The MDR1 3435 polymorphism in patients with rheumatoid arthritis. Int J Clin Pharmacol Ther. 2004;42:496–503.
   PubMed Web of Science ®Google Scholar
• Drozdzik M, Rudas T, Pawlik A, et al. The effect of 3435C > T MDR1 gene polymorphism on rheumatoid arthritis treatment with disease-modifying antirheumatic drugs. Eur J Clin Pharmacol. 2006;62:933–937.
   PubMed Web of Science ®Google Scholar