ATG16L1 and IL23 receptor (IL23R) genes are associated with disease susceptibility in Hungarian CD patients

Lakatos, Péter László and Szamosi, Tamás and Szilvási, Anikó and Molnár, E. and Lakatos, László and Kovács, A. and Molnár, Tamás and Altorjay, István and Papp, Mária and Tulassay, Zsolt and Miheller, Pál and Papp, János and Tordai, Attila and Andrikovics, H. (2008) ATG16L1 and IL23 receptor (IL23R) genes are associated with disease susceptibility in Hungarian CD patients. Digestive and Liver Disease, 40 (11). pp. 867-873. ISSN 1590-8658

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Background. North American and European genome-wide association scans have identified ATG16L1 and IL23R as novel inflammatory bowel disease (11313) susceptibility genes and Subsequent reports continued these findings in large independent populations. The aims of this study were to investigate the association and examine genotype-phenotype relationships in a Hungarian 1131) cohort. Methods. 415 unrelated IBD patients (CD: 266, age: 35.2 +/- 12.1 years, duration: 8.7 +/- 7.5 years and UC: 149, age: 44.4 +/- 15.4 years, duration: 10.7 +/- 8.9 years) and 149 healthy subjects were investigated. IL23R Arg381GIn (R381Q, rs 11209026) and ATG16L1 Thr300Ala (T300A, rs2241880) polymorphisms were tested using LightCycler allele discrimination method. Detailed clinical phenotypes were determined by reviewing the medical charts. Results. The association between IL23R rs 11209026, ATG16L1 rs2241880 and CD was confirmed (ORIL23R381Q: 0.38, 95% CI: 0.16-0.87; ORATG161-1300AA: 1.86, 95% CI: 1.04-3.40). No difference was found between patients with UC and either controls or CD. In CID, IL23R 381Gln heterozygosity was associated with inflammatory disease (70% vs. 34%, p = 0.037), while disease restricted to the colon was more prevalent in patients with the ATG16L1 300Ala/Ala homozygosity (33.3% vs. 21.1%, p = 0.036). In addition, carriage of the variant alleles did not predict response to steroids, infliximab or need for surgery. Conclusions. We confirmed that ATG16L1 and IL23R are susceptibility loci for CD in Hungarian CID patients. Further studies are needed to confirm the reported phenotype-genotype associations found in this Study.

Item Type: Article
Subjects: R Medicine / orvostudomány > RC Internal medicine / belgyógyászat
Depositing User: Erika Bilicsi
Date Deposited: 08 Apr 2013 09:12
Last Modified: 08 Apr 2013 09:12

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