0000000000319022

AUTHOR

Elaine R. Nimmo

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DLG5 variants do not influence susceptibility to inflammatory bowel disease in the Scottish population

2005

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. Ge…

AdultMaleLetterGenotypePopulationNod2 Signaling Adaptor ProteinSingle-nucleotide polymorphismBiologyInflammatory bowel diseaseLoss of heterozygosityCrohn DiseaseGene FrequencyGenotypemedicineHumansGenetic Predisposition to DiseaseeducationGenotypingAllele frequencyGeneticseducation.field_of_studyTumor Suppressor ProteinsInflammatory Bowel DiseaseHaplotypeGastroenterologyIntracellular Signaling Peptides and ProteinsMembrane ProteinsEpistasis GeneticMiddle Agedmedicine.diseaseInflammatory Bowel Diseasesdigestive system diseasesPhenotypeHaplotypesScotlandImmunologyColitis UlcerativeFemale
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