The IBD International Genetics Consortium Provides Further Evidence for Linkage to IBD4 and Shows Gene‐Environment Interaction
@article{Pierik2005TheII, title={The IBD International Genetics Consortium Provides Further Evidence for Linkage to IBD4 and Shows Gene‐Environment Interaction}, author={Marie J Pierik and Huiying Yang and M. Michael Barmada and Juleen A. Cavanaugh and Vito Annese and Steven R. Brant and Judy H. Cho and Richard H. Duerr and Jean-Pierre Hugot and Dermot P. B. McGovern and Paulina Paavola-Sakki and Graham L. Radford-Smith and Paul Pavli and Mark S. Silverberg and S Schreiber and Kent D. Taylor and Robert F. Vlietinck}, journal={Inflammatory Bowel Diseases}, year={2005}, volume={11}, pages={1–7} }
Background and Aims: The inflammatory bowel diseases (IBDs) Crohn's disease (CD) and ulcerative colitis are complex disorders with an important genetic determinant. One gene associated with CD has been identified: NOD2/CARD15. Two independent genome‐wide scans found significant evidence (logarithm of odds [LOD] 3.6) and suggestive evidence (LOD 2.8) for linkage on locus 14q11‐12, also known as the IBD4 locus. To further characterize this locus, we assessed gene‐environment interaction (IBD4…
63 Citations
Inflammatory bowel disease genetics: Nod2.
- Biology, MedicineAnnual review of medicine
- 2007
Taken together, the Nod2 association to CD provides an illustrative model of the role of single gene variants in disease pathogenesis for common, complex multigenic disorders.
Role of genes, the environment and their interactions in the etiology of inflammatory bowel diseases
- Medicine, BiologyExpert review of molecular diagnostics
- 2006
Animal models must be further studied to explore mechanistic interactions of the role of genetics and environmental contribution to the etiopathology of IBD, as transgenic or knockout mice, such as interleukin-10-/-, T-cell receptor α-/- and N-cadherin-/- develop colitis-like inflammation similar to humans.
Genetics of Inflammatory Bowel Diseases
- Biology, Medicine
- 2013
As the knowledge of genotype–phenotype associations grows, it is anticipated that genotyping at the onset of disease may enable physicians to predict disease course and tailor medical therapies specific for each patient.
Immunogenetic biomarkers in inflammatory bowel diseases: role of the IBD3 region.
- BiologyWorld journal of gastroenterology
- 2014
Recent insights into the biological function of other genes encoded within the IBD3 region, such as the MHC class I chain-related (MIC) genes, have led investigators to a more comprehensive exploration of this region.
Frequency of single nucleotide polymorphisms in NOD1 gene of ulcerative colitis patients: a case-control study in the Indian population
- BiologyBMC Medical Genetics
- 2008
It is proposed that the location of mutations in the Exon 6 spanning the ATP and Mg2+ binding site of NBD in NOD1 gene may affect the process of oligomerization and subsequent function of the LRR domain.
Genetics of Inflammatory Bowel Diseases.
- BiologyGastroenterology
- 2015
The rapidly evolving area of direct-to-consumer genetic testing and the current utility of clinical exome sequencing is discussed, especially in very early onset, severe IBD cases.
Inflammatory bowel disease--environmental modification and genetic determinants.
- BiologyPediatric clinics of North America
- 2006
Genetic Evidence Supporting the Association of Protease and Protease Inhibitor Genes with Inflammatory Bowel Disease: A Systematic Review
- BiologyPloS one
- 2011
A computer algorithm is developed to map the 807 P/PI genes with exact genomic locations listed in the MEROPS database of peptidases onto these critical regions and to rank P/ PI genes according to the accumulated evidence for their association with Crohn's disease and UC.
Heritability in Inflammatory Bowel Disease: From the First Twin Study to Genome-Wide Association Studies
- BiologyInflammatory bowel diseases
- 2015
Twin and family studies continue to support a strong genetic basis of the inflammatory bowel diseases and further work aimed at quantifying the variance explained across GWAS, epigenome-wide, and microbiota-wide association studies will help to define factors leading to inflammatory bowel disease.
Recent advances in the genetics of inflammatory bowel disease
- Medicine, BiologyCurrent opinion in gastroenterology
- 2005
The article discusses current information on the relation between CARD15 variants and Crohn disease and the discoveries of SLC22A4/SLC 22A5 and DLG5 gene variants that also confer risk for inflammatory bowel disease.
References
SHOWING 1-10 OF 35 REFERENCES
Genome-wide search in Finnish families with inflammatory bowel disease provides evidence for novel susceptibility loci
- BiologyEuropean Journal of Human Genetics
- 2003
This study confirmed several of the IBD loci that have previously been reported and gives evidence for new I BD loci on chromosomes 2p11, 11p12-q13, 12p13-12, 12q23, and 19q13.
Linkage heterogeneity for the IBD1 locus in Crohn's disease pedigrees by disease onset and severity.
- MedicineGastroenterology
- 2000
The presence of early-onset, more severe CD identifies pedigrees at high risk for IBD1, which will have more power to refine the I BD1 locus and identify the causative gene.
High-density genome scan in Crohn disease shows confirmed linkage to chromosome 14q11-12.
- BiologyAmerican journal of human genetics
- 2000
The finding of significant linkage to D14S261 and the finding of suggestive linkage to the same locus in an independent study satisfies criteria for confirmed linkage, so it is proposed that the region of interest on chromosome 14q11-12 should be designated the IBD4 locus.
A genome-wide search identifies potential new susceptibility loci for Crohn's disease.
- Biology, MedicineInflammatory bowel diseases
- 1999
The preliminary results provide potential evidence for several susceptibility loci contributing to the risk of CD, and the observation of man-mouse synteny may accelerate the identification of CD susceptibility gene(s) on human chromosome 5.
Genomewide search in Canadian families with inflammatory bowel disease reveals two novel susceptibility loci.
- Medicine, BiologyAmerican journal of human genetics
- 2000
A genomewide scan in 158 Canadian sib-pair families identified three regions of suggestive linkage and one region of significant linkage to 19p13 that contributes to CD susceptibility in families with early-onset disease.
Linkage of inflammatory bowel disease to human chromosome 6p.
- Biology, MedicineAmerican journal of human genetics
- 1999
A two-stage linkage and association analysis of a basic population of 353 affected sibling pairs and an extension of this population to 428 white ASPs of northern European extraction provides firm linkage evidence for an IBD-susceptibility locus on chromosome 6p and demonstrates that TNFA and LTA are unlikely to be susceptibility loci for IBD.
Two stage genome–wide search in inflammatory bowel disease provides evidence for susceptibility loci on chromosomes 3, 7 and 12
- MedicineNature Genetics
- 1996
The data suggest that CD and UC are closely related, but distinct, polygenic disorders that share some, but not all, susceptibility genes.
Using a Genome-Wide Scan and Meta-analysis to Identify a Novel IBD Locus and Confirm Previously Identified IBD Loci
- Biology, MedicineInflammatory bowel diseases
- 2002
Meta-analysis of linkage data is a powerful approach for identifying and confirming common susceptibility loci and specifically shows that IBD1, IBD3, and IBD5 are the major, common IBD susceptibility loca in the populations studied thus far.
Association between insertion mutation in NOD2 gene and Crohn's disease in German and British populations
- Medicine, BiologyThe Lancet
- 2001
Identification of novel susceptibility loci for inflammatory bowel disease on chromosomes 1p, 3q, and 4q: evidence for epistasis between 1p and IBD1.
- MedicineProceedings of the National Academy of Sciences of the United States of America
- 1998
A genome-wide screen using 377 autosomal markers provides strong evidence that there are several major susceptibility loci contributing to the genetic risk for CD and UC.