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DLG5 variants do not influence susceptibility to inflammatory bowel disease in the Scottish population.
- Source :
-
Gut [Gut] 2005 Oct; Vol. 54 (10), pp. 1416-20. Date of Electronic Publication: 2005 Apr 20. - Publication Year :
- 2005
-
Abstract
- Introduction: 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. Haplotype D, notably characterised by the presence of a G-->A substitution at nucleotide 113, was associated with susceptibility to Crohn's disease (CD) whereas an extended haplotype A conferred protection.<br />Aims: Association of DLG5 haplotypic variants with disease susceptibility, genotype-phenotype relationships, and epistasis with CARD15 was investigated in the Scottish population.<br />Patients and Methods: A total of 374 CD, 305 ulcerative colitis (UC), and 294 healthy controls (HC) were studied. Genotyping for the variants rs1248696 (113A, representing haplotype D) and the single nucleotide polymorphism tag rs2289311 (representing haplotype A) were typed using the Taqman system.<br />Results: On analysis of the DLG5 variant 113A, there were no associations with IBD when allelic frequency (11.4% IBD v 13.2% HC; p = 0.30) and carrier frequency (19.2% IBD v 24.6% HC; p = 0.069) were analysed. No associations were observed between 113A variant allelic frequency (p = 0.37), carrier frequency (p = 0.057), and CD. In fact, 113A heterozygosity rates were lower in CD (16%) and IBD (16.9%) than in HC (23%) (p = 0.029 and p = 0.033, respectively). No associations between DLG5 and UC were observed. Haplotype A was not protective and there was no evidence of epistasis between DLG5 and CARD15.<br />Conclusions: The present data contrast strongly with previous data from Germany. DLG5 113A is not associated with disease susceptibility and haplotype A does not confer resistance. Further work is required to evaluate the significance of DLG5 in other populations from geographically diverse regions.
- Subjects :
- Adult
Colitis, Ulcerative epidemiology
Colitis, Ulcerative genetics
Crohn Disease epidemiology
Crohn Disease genetics
Epistasis, Genetic
Female
Gene Frequency genetics
Genetic Predisposition to Disease epidemiology
Genotype
Haplotypes genetics
Humans
Inflammatory Bowel Diseases epidemiology
Intracellular Signaling Peptides and Proteins genetics
Male
Middle Aged
Nod2 Signaling Adaptor Protein
Phenotype
Scotland epidemiology
Genetic Predisposition to Disease genetics
Inflammatory Bowel Diseases genetics
Membrane Proteins genetics
Tumor Suppressor Proteins genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0017-5749
- Volume :
- 54
- Issue :
- 10
- Database :
- MEDLINE
- Journal :
- Gut
- Publication Type :
- Academic Journal
- Accession number :
- 15843420
- Full Text :
- https://doi.org/10.1136/gut.2005.066621