Journal Article


Kathleen A Quane
Nollaig A Parfrey
Fergus Shanahan
Diarmuid O'Donoghue
Colm O'Morain
Denise Keegan
Pat Vaughan
Dermot T Leahy
Michelle Gardner
Clare O'Leary
and 4 others



mutation genetic testing chromosomes human pair 16 crohn disease genetics microsatellite repeats nod2 signaling adaptor protein linkage disequilibrium alleles dna primers dna mutational analysis pedigree intracellular signaling peptides and proteins adult carrier proteins nod2 protein human ireland humans

Association of NOD2 with Crohn's disease in a homogenous Irish population. (2003)

Abstract Linkage of IBD to the pericentromeric region of chromosome 16 has been widely confirmed by analyses of multiple populations. The NOD2 gene is located in the peak region of linkage on chromosome 16 and thought to be involved in the activation of nuclear factor (NF) kappaB in response to bacterial components. Mutations in the NOD2 gene are found to be strongly associated with susceptibility to Crohn's disease (CD). A total of 65 Irish CD families were genotyped to determine if NOD2 mutations conferred susceptibility to CD and the prevalence of these mutations in sporadic and familial forms of the disease. The Irish population is relatively homogenous and thus may provide advantages in genetic studies of complex diseases. We confirmed the IBD1 locus as a susceptibility locus for IBD within the Irish population by linkage analysis followed by linkage disequilibrium studies. No significant evidence of linkage was observed to the previously identified regions on chromosomes 1, 12 and 14. In all, 131 CD affected families were then genotyped for seven of the previously published NOD2 single-nucleotide polymorphisms (SNPs). Allelic transmission distortion was investigated using the pedigree disequilibrium test (PDT). SNP13 (3020insC) was found to be associated with CD (P=0.0186). Patients who possessed a rare allele of SNP8, 12 or 13 presented earlier when compared to patients without rare variants (mean age, 20.1 vs 24 years, P=0.011) and the rare allele of SNP13 was observed to be predominantly linked to ileal disease (P=0.02). This report confirms the importance of NOD2 as a susceptibility gene for CD within the Irish population.
Collections Ireland -> University College Cork -> PubMed

Full list of authors on original publication

Kathleen A Quane, Nollaig A Parfrey, Fergus Shanahan, Diarmuid O'Donoghue, Colm O'Morain, Denise Keegan, Pat Vaughan, Dermot T Leahy, Michelle Gardner, Clare O'Leary and 4 others

Experts in our system

Nollaig A Parfrey
Royal College of Surgeons in Ireland
Total Publications: 3
Fergus Shanahan
University College Cork
Total Publications: 259
Diarmuid O'Donoghue
University College Dublin
Total Publications: 42
Denise Keegan
University College Dublin
Total Publications: 22