ATP-binding cassette transporter ABCG2 (BCRP) and ABCB1 (MDR1) variants are not associated with disease susceptibility, disease phenotype response to medical therapy or need for surgeryin Hungarian patients with inflammatory bowel diseases
| Autor: | Simon Fischer, Peter Laszlo Lakatos, null AND THE HUNGARIAN IBD STUDY GROUP, Laszlo Lakatos, Agota Kovacs, Tamas Molnar, Istvan Altorjay, Maria Papp, Aniko Szilvasi, Zsolt Tulassay, Janos Osztovits, Janos Papp, Pal Demeter, Richard Schwab, Attila Tordai, Hajnalka Andrikovics |
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| Rok vydání: | 2007 |
| Předmět: |
Adult
Male Candidate gene ATP Binding Cassette Transporter Subfamily B Abcg2 Organic Anion Transporters Single-nucleotide polymorphism Disease Biology Klinikai orvostudományok Polymorphism Single Nucleotide Pathogenesis Polymorphism (computer science) medicine ATP Binding Cassette Transporter Subfamily G Member 2 Humans Genetic Predisposition to Disease ATP Binding Cassette Transporter Subfamily B Member 1 Digestive System Surgical Procedures Hungary Gastroenterology Orvostudományok Middle Aged medicine.disease Inflammatory Bowel Diseases Phenotype Ulcerative colitis Neoplasm Proteins Immunology biology.protein ATP-Binding Cassette Transporters Female |
| Zdroj: | Scandinavian journal of gastroenterology. 42(6) |
| ISSN: | 0036-5521 |
| Popis: | MDR1 (ABCB1), a member of the ATP-binding cassette (ABC) transporters, is an attractive candidate gene for the pathogenesis of inflammatory bowel diseases (IBD) and perhaps for response to therapy. Since limited data are available on MDR1 and ABCG2 polymorphisms in East European IBD patients, the aim of this study was to investigate ABCG2 and MDR1 variants and responses to medical therapy and/or disease phenotype in Hungarian patients.A total of 414 unrelated IBD patients (Crohn's disease (CD): 265, age: 35.2+/-12.1 years, duration: 8.7+/-7.6 years and ulcerative colitis (UC): 149, age: 44.4+/-15.4 years, duration: 10.7+/-8.9 years) and 149 healthy subjects were investigated. ABCG2 G34A, C421A and MDR1 C3435T, G2677T/A single nucleotide polymorphisms (SNPs) were detected using real-time polymerase chain reaction (PCR). Detailed clinical phenotypes were determined by reviewing the medical charts.The frequency of the ABCG2 and MDR1 SNPs was not significantly different among IBD, CD, UC patients and controls. There was no difference in risk for steroid resistance in CD patients carrying variant ABCG2 (19.6% versus non-carriers 18.4%, p=NS) or MDR1 3435T (CC: 22.2% versus CT/TT: 17.6%) alleles. In addition, carriage of the variant allele was not associated with disease phenotype, presence of extra-intestinal manifestations, smoking, response to infliximab therapy or the need for surgery. In UC, the carriage of variant ABCG2 alleles seemed to be preventive for arthritis (15.5% versus 31.7%, OR: 0.39, 95% CI: 0.16-0.98).MDR1 and ABCG2 SNPs were not associated with disease susceptibility or disease phenotype in Hungarian patients, and variant alleles did not predict the response to medical therapy or the need for surgery. Further studies are needed to clarify the association between the presence of ABCG2 variants and arthritis in UC. |
| Databáze: | OpenAIRE |
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