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DLG5 variants do not influence susceptibility to inflammatory bowel disease in the Scottish population
- Publication Year :
- 2019
- Publisher :
- BMJ Publishing Group, 2019.
-
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. Aims: Association of DLG5 haplotypic variants with disease susceptibility, genotype-phenotype relationships, and epistasis with CARD15 was investigated in the Scottish population. 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. 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. 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
Male
Letter
Genotype
Population
Nod2 Signaling Adaptor Protein
Single-nucleotide polymorphism
Biology
Inflammatory bowel disease
Loss of heterozygosity
Crohn Disease
Gene Frequency
medicine
Humans
Genetic Predisposition to Disease
education
Genotyping
Allele frequency
Genetics
education.field_of_study
Tumor Suppressor Proteins
Inflammatory Bowel Disease
Haplotype
Gastroenterology
Intracellular Signaling Peptides and Proteins
Membrane Proteins
Epistasis, Genetic
Middle Aged
medicine.disease
Inflammatory Bowel Diseases
digestive system diseases
Phenotype
Haplotypes
Scotland
Immunology
Colitis, Ulcerative
Female
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Accession number :
- edsair.doi.dedup.....33be18ff20886c2055e1d7f2c868f289