PT  - JOURNAL ARTICLE
AU  - H-P Török
AU  - J Glas
AU  - L Tonenchi
AU  - P Lohse
AU  - B Müller-Myhsok
AU  - O Limbersky
AU  - C Neugebauer
AU  - F Schnitzler
AU  - J Seiderer
AU  - C Tillack
AU  - S Brand
AU  - G Brünnler
AU  - P Jagiello
AU  - J T Epplen
AU  - T Griga
AU  - W Klein
AU  - U Schiemann
AU  - M Folwaczny
AU  - T Ochsenkühn
AU  - C Folwaczny
TI  - Polymorphisms in the <em>DLG5</em> and OCTN cation transporter genes in Crohn’s disease
AID  - 10.1136/gut.2005.066340
DP  - 2005 Oct 01
TA  - Gut
PG  - 1421--1427
VI  - 54
IP  - 10
4099  - http://gut.bmj.com/content/54/10/1421.short
4100  - http://gut.bmj.com/content/54/10/1421.full
SO  - Gut2005 Oct 01; 54
AB  - Background and aims: Recent data suggest identification of causal genetic variants for inflammatory bowel disease in the DLG5 gene and in the organic cation transporter (OCTN) cluster, both situated in previously described linkage regions. Patients and methods: The polymorphisms in DLG5 (113 G→A, 4136 C→A, and DLG5_e26), SLC22A4 (1672 C→T), and SLC22A5 (−207 G→C) were assessed in 625 patients with Crohn’s disease (CD), 363 patients with ulcerative colitis (UC), and 1012 healthy controls. Association with disease susceptibility, clinical phenotypes, and possible genetic interactions of these polymorphisms with disease associated CARD15/NOD2 mutations was analysed. Results: No significant association of DLG5 polymorphisms with CD or UC was observed. Homozygosity for the OCTN-TC haplotype was associated with an increased CD risk (OR = 1.65), which was even greater in the presence of CARD15 mutations. Genotype-phenotype analysis revealed that this association was particularly strong in patients with colonic disease. The TC haplotype was associated with non-fistulising non-fibrostenotic disease, an earlier age of disease onset, and reduced need for surgery. Conclusion: Our observations argue against a role of DLG5 polymorphisms in the susceptibility for inflammatory bowel disease, whereas the OCTN polymorphisms are associated with CD. However, due to the comparable weak association observed herein, extended linkage disequilibrium analyses of these variants with the IBD5 haplotype tagged single nucleotide polymorphims might be advisable before definitive conclusions about their causative role in CD can be drawn.