International Journal of Colorectal Disease

, Volume 22, Issue 4, pp 419–424 | Cite as

Investigation of association of the DLG5 gene with phenotypes of inflammatory bowel disease in the British population

  • Alexandra V. Pearce
  • Sheila A. Fisher
  • Natalie J. Prescott
  • Clive M. Onnie
  • Reenal Pattni
  • Peter Green
  • Alastair Forbes
  • John Mansfield
  • Jeremy Sanderson
  • Stefan Schreiber
  • Cathryn M. Lewis
  • Christopher G. Mathew
Original Article

Abstract

Background and aims

Mutations in the DLG5 gene are associated with an increased risk of inflammatory bowel disease (IBD) in some European populations. Initial investigation of a British IBD population showed evidence of association of one of three DLG5 variants, R30Q, in a family-based collection but not in a case-control cohort. We have now examined the association of the R30Q polymorphism in a large cohort of British IBD cases, tested for interaction between the DLG5 and CARD15 genes and assessed possible association of DLG5 with clinical features of Crohn’s disease (CD) and ulcerative colitis (UC).

Materials and methods

DLG5 R30Q and the CARD15 polymorphisms, Arg702Trp, Gly908Arg and Leu1007fs were genotyped in 1,148 IBD cases and 749 controls. DLG5 R30Q was also analysed in cases stratified by CARD15 genotype, disease subtype and smoking history.

Results/findings

No significant difference in frequencies of the R30Q variant was observed between IBD cases (9.9%) and controls (10.1%) or in cases analysed separately as CD and UC. There was also no significant difference in the frequency of R30Q between CD cases carrying risk-associated CARD15 alleles and those that did not. The frequency of R30Q was higher in CD cases with ileal disease than cases without (p=0.042) and higher in CD cases who had smoked than in nonsmokers (p=0.009).

Interpretation/conclusion

The R30Q variant in the DLG5 gene does not appear to be associated with an overall increase in the risk of disease in a British IBD cohort, but differences in its frequency in subgroups of CD patients warrant further investigation.

Keywords

Inflammatory bowel disease DLG5 Association 

Notes

Acknowledgements

This work was supported by the Wellcome Trust, the Guy’s and St. Thomas’ Charity, the European Commission Framework V program and CORE (UK). A. Pearce was supported by a studentship from King’s College London School of Medicine.

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Copyright information

© Springer-Verlag 2006

Authors and Affiliations

  • Alexandra V. Pearce
    • 1
  • Sheila A. Fisher
    • 1
  • Natalie J. Prescott
    • 1
  • Clive M. Onnie
    • 1
  • Reenal Pattni
    • 1
  • Peter Green
    • 1
  • Alastair Forbes
    • 2
  • John Mansfield
    • 3
  • Jeremy Sanderson
    • 4
  • Stefan Schreiber
    • 5
  • Cathryn M. Lewis
    • 1
  • Christopher G. Mathew
    • 1
  1. 1.Department of Medical & Molecular GeneticsKing’s College London School of MedicineLondonUK
  2. 2.Institute for Digestive DiseasesUniversity College London Hospitals TrustLondonUK
  3. 3.Department of Gastroenterology & HepatologyUniversity of Newcastle upon TyneNewcastle upon TyneUK
  4. 4.Department of GastroenterologyGuy’s and St Thomas’ NHS Foundation TrustLondonUK
  5. 5.Institut für Klinische MolekularbiologieChristian-Albrechts UniversitätKielGermany

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