Z Gastroenterol 2006; 44 - A69
DOI: 10.1055/s-2006-943435

DLG5 R30Q is not associated with IBD in Hungarian patients, but predicts clinical response to steroids in Crohn's disease

PL Lakatos 1, S Fischer 1, K Claes 2, L Lakatos 3, A Kovacs 4, T Molnár 5, I Altorjay 6, P Demeter 7, K Palatka 6, M Papp 6, Z Tulassay 8, F Szalay 1, S Vermeire 2, J Papp 1
  • 11st Department of Medicine, Semmelweis University, Budapest
  • 2Division of Gastroenterology, University Hospital of Leuven, Belgium
  • 31st Department of Medicine, Csolnoky F. County Hospital, Veszprem
  • 41st Department of Medicine, Erzsebet Hospital
  • 51st Department of Medicine, University of Szeged
  • 61nd Department of Medicine, University of Debrecen
  • 7Department of Gastroenterology, St Margit Hospital
  • 81nd Department of Medicine, Semmelweis University, Budapest

Aim: Recent data have suggested that specific haplotypic variants of the DLG5 gene on chromosome 10q23 may be associated with susceptibility to inflammatory bowel disease (IBD) in Germany. In view of the geographical differences in frequency of genetic markers and absence of data in Central-European patients, our aim was to determine the DLG5 R30Q in Hungarian IBD patients.

Methods: 773 unrelated IBD patients (age 38.1±10.3 years, duration 8.8±7.5) years), CD: 639 and UC: 134) and 150 healthy subjects were investigated. DLG R30Q was tested by PCR-RFLP. Detailed clinical phenotype was determined by review of the medical charts.

Results: The frequency of the R30Q variant allele was not significantly different in IBD (22.0%), CD (20.8%) and UC (27.6%) patients compared to healthy controls (28.0%). In CD, the carriage of the 113A variant allele was associated to steroid resistance (16.3% vs. in non-carriers: 7.6%, OR: 2.4.95% CI:1.3–4.5, p=0.013). In a logistic regression model carriage of DLG5 R30Q, perianal involvement and frequent relapses were independently associated with steroid resistance. In UC, no phenotype-genotype associations were found, although a trend towards more extensive disease was observed in carriers of variant allele (OR: 2.1,95% CI: 0.95–4.4, p=0.07). There was no association between DLG5, NOD2 and/or TLR4.

Conclusion: The present data contrast strongly with previous data from Germany. DLG5 113A is not associated with disease susceptibility, but there was a tendency to this allele to confer resistance to steroids.