C3435T Polymorphism of the ABCB1 Gene in Polish Patients with Inflammatory Bowel Disease: A Case-Control and Meta-Analysis Study

被引:6
作者
Petryszyn, Pawel [1 ]
Dudkowiak, Robert [2 ]
Gruca, Agnieszka [1 ]
Jazwinska-Tarnawska, Ewa [1 ]
Ekk-Cierniakowski, Pawel [3 ]
Poniewierka, Elzbieta [2 ]
Wiela-Hojenska, Anna [1 ]
Glowacka, Krystyna [1 ]
机构
[1] Wroclaw Med Univ, Dept Clin Pharmacol, PL-50571 Wroclaw, Poland
[2] Wroclaw Med Univ, Dept Gastroenterol & Hepatol, PL-50571 Wroclaw, Poland
[3] Warsaw Sch Econ, PL-00968 Warsaw, Poland
关键词
Crohn's disease; ulcerative colitis; P-glycoprotein; association; meta-analysis; geographical variations; functional genomics; pharmacogenetics; MULTIDRUG-RESISTANCE GENE; MDR1; GENE; P-GLYCOPROTEIN; CROHNS-DISEASE; MULTIDRUG-RESISTANCE-1; SUSCEPTIBILITY LOCI; ULCERATIVE-COLITIS; ASSOCIATION; EXPRESSION; RISK;
D O I
10.3390/genes12091419
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
P-glycoprotein encoded by the ABCB1 gene constitutes a molecular barrier in the small and large bowel epithelium, and its different expression may influence susceptibility to inflammatory bowel disease (IBD). We aimed to assess the contribution of the C3435T polymorphism to disease risk in the Polish population. A total of 100 patients (50 Crohn's disease (CD), 50 ulcerative colitis (UC)) and 100 healthy controls were genotyped for the single nucleotide polymorphism (SNP) C3435T by using the PCR-RFLP method. Patients were classified on the basis of disease phenotype and the specific treatment used. A meta-analysis was carried out of our results and those from previously published Polish studies. There was no significant difference in allele and genotype frequencies in IBD patients compared with controls. For CD patients, a lower frequency of TT genotype in those with colonic disease, a lower frequency of T allele, and a higher frequency of C allele in those with luminal disease were observed, whereas for UC patients, a lower frequency of CT genotype was observed in those with left-sided colitis. A meta-analysis showed a tendency towards higher prevalence of CC genotype in UC cases. These results indicate that the C3435T variants may confer a risk for UC and influence disease behaviour.
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共 62 条
[1]   The molecular classification of the clinical manifestations of Crohn's disease [J].
Ahmad, T ;
Armuzzi, A ;
Bunce, M ;
Mulcahy-Hawes, K ;
Marshall, SE ;
Orchard, TR ;
Crawshaw, J ;
Large, O ;
De Silva, A ;
Cook, JT ;
Barnardo, M ;
Cullen, S ;
Welsh, KI ;
Jewell, DP .
GASTROENTEROLOGY, 2002, 122 (04) :854-866
[2]   Aspirin, Nonsteroidal Anti-inflammatory Drug Use, and Risk for Crohn Disease and Ulcerative Colitis A Cohort Study [J].
Ananthakrishnan, Ashwin N. ;
Higuchi, Leslie M. ;
Huang, Edward S. ;
Khalili, Hamed ;
Richter, James M. ;
Fuchs, Charles S. ;
Chan, Andrew T. .
ANNALS OF INTERNAL MEDICINE, 2012, 156 (05) :350-U170
[3]   Multidrug resistance 1 gene in inflammatory bowel disease: A meta-analysis [J].
Annese, V. ;
Valvano, M. R. ;
Palmieri, O. ;
Latiano, A. ;
Bossa, F. ;
Andriulli, A. .
WORLD JOURNAL OF GASTROENTEROLOGY, 2006, 12 (23) :3636-3644
[4]   Multidrug resistance 1 gene polymorphism and susceptibility to inflammatory bowel disease [J].
Ardizzone, S. ;
Maconi, G. ;
Bianchi, V. ;
Russo, A. ;
Colombo, E. ;
Cassinotti, A. ;
Penati, C. ;
Tenchini, M. L. ;
Porro, G. Bianchi .
INFLAMMATORY BOWEL DISEASES, 2007, 13 (05) :516-523
[5]   Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease [J].
Barrett, Jeffrey C. ;
Hansoul, Sarah ;
Nicolae, Dan L. ;
Cho, Judy H. ;
Duerr, Richard H. ;
Rioux, John D. ;
Brant, Steven R. ;
Silverberg, Mark S. ;
Taylor, Kent D. ;
Barmada, M. Michael ;
Bitton, Alain ;
Dassopoulos, Themistocles ;
Datta, Lisa Wu ;
Green, Todd ;
Griffiths, Anne M. ;
Kistner, Emily O. ;
Murtha, Michael T. ;
Regueiro, Miguel D. ;
Rotter, Jerome I. ;
Schumm, L. Philip ;
Steinhart, A. Hillary ;
Targan, Stephan R. ;
Xavier, Ramnik J. ;
Libioulle, Cecile ;
Sandor, Cynthia ;
Lathrop, Mark ;
Belaiche, Jacques ;
Dewit, Olivier ;
Gut, Ivo ;
Heath, Simon ;
Laukens, Debby ;
Mni, Myriam ;
Rutgeerts, Paul ;
Van Gossum, Andre ;
Zelenika, Diana ;
Franchimont, Denis ;
Hugot, Jean-Pierre ;
de Vos, Martine ;
Vermeire, Severine ;
Louis, Edouard ;
Cardon, Lon R. ;
Anderson, Carl A. ;
Drummond, Hazel ;
Nimmo, Elaine ;
Ahmad, Tariq ;
Prescott, Natalie J. ;
Onnie, Clive M. ;
Fisher, Sheila A. ;
Marchini, Jonathan ;
Ghori, Jilur .
NATURE GENETICS, 2008, 40 (08) :955-962
[6]   Crohn's disease-associated NOD2 variants share a signaling defect in response to lipopolysaccharide and peptidoglycan [J].
Bonen, DK ;
Ogura, Y ;
Nicolae, DL ;
Inohara, N ;
Saab, L ;
Tanabe, T ;
Chen, FF ;
Foster, SJ ;
Duerr, RH ;
Brant, SR ;
Cho, JH ;
Nuñez, G .
GASTROENTEROLOGY, 2003, 124 (01) :140-146
[7]   A family of drug transporters: The multidrug resistance-associated proteins [J].
Borst, P ;
Evers, R ;
Kool, M ;
Wijnholds, J .
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE, 2000, 92 (16) :1295-1302
[8]   MDR1 Ala893 polymorphism is associated with inflammatory bowel disease [J].
Brant, SR ;
Panhuysen, CIM ;
Nicolae, D ;
Reddy, DM ;
Bonen, DK ;
Karaliukas, R ;
Zhang, LL ;
Swanson, E ;
Datta, LW ;
Moran, T ;
Ravenhill, G ;
Duerr, RH ;
Achkar, JP ;
Karban, AS ;
Cho, JH .
AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (06) :1282-1292
[9]   MDR1 polymorphisms are associated with inflammatory bowel disease in a cohort of Croatian IBD patients [J].
Brinar, Marko ;
Cukovic-Cavka, Silvija ;
Bozina, Nada ;
Ravic, Katja Grubelic ;
Markos, Pave ;
Ladic, Agata ;
Cota, Marijana ;
Krznaric, Zeljko ;
Vucelic, Boris .
BMC GASTROENTEROLOGY, 2013, 13
[10]   Lack of association between the C3435T MDR1 gene polymorphism and inflammatory bowel disease in two independent northern European populations [J].
Croucher, PJP ;
Mascheretti, S ;
Foelsch, UR ;
Hampe, J ;
Schreiber, S ;
Mathew, CG .
GASTROENTEROLOGY, 2003, 125 (06) :1919-1920