A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease
It is shown that a frameshift mutation caused by a cytosine insertion, 3020insC, which is expected to encode a truncated NOD2 protein, is associated with Crohn's disease, and a link between an innate immune response to bacterial components and development of disease is suggested.
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease
A meta-analysis of Crohn’s disease and ulcerative colitis genome-wide association scans is undertaken, followed by extensive validation of significant findings, with a combined total of more than 75,000 cases and controls.
Functional annotation of a novel NFKB1 promoter polymorphism that increases risk for ulcerative colitis.
The first potentially functional polymorphism of NFKB1 is identified and its genetic association with a common human disease, ulcerative colitis is demonstrated.
Efficacy of 5-Aminosalicylates in Ulcerative Colitis: Systematic Review and Meta-Analysis
5-ASAs are highly effective for inducing remission and preventing relapse in UC, and evidence suggests that doses of ≥2.0 g/day have greater efficacy, although doses >2.5 G/day do not appear to lead to higher remission rates.
ATG16L1 and NOD2 interact in an autophagy-dependent antibacterial pathway implicated in Crohn's disease pathogenesis.
- C. Homer, A. Richmond, N. Rebert, J. Achkar, C. McDonald
- Biology, MedicineGastroenterology
- 1 November 2010
ATG16L1 and NOD2 are components of an autophagy-mediated antibacterial pathway that is altered in a cell- and function-specific manner by CD-associated mutations.
An Evidence-Based Systematic Review on Medical Therapies for Inflammatory Bowel Disease
Both UC and CD exhibit a relapsing and remitting course and there is a reduced quality of life during exacerbations of the disease, which has an impact on psychological health, with active IBD patients experiencing greater levels of distress and feelings of lack of sense of self-control compared with the normal population and patients with inactive IBD.
Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis
This analysis compared 3,789 PSC cases of European ancestry to 25,079 population controls across 130,422 SNPs genotyped using the Immunochip to identify 12 genome-wide significant associations outside the human leukocyte antigen (HLA) complex, 9 of which were new, increasing the number of known PSC risk loci to 16.
MDR1 Ala893 polymorphism is associated with inflammatory bowel disease.
- S. Brant, C. Panhuysen, Judy H. Cho
- Biology, MedicineAmerican Journal of Human Genetics
- 1 December 2003
The association of the common Ala893 polymorphism with IBD specifically and with the murine model of mdr1 deficiency provides additional support for its contribution to interindividual pharmacogenetic variation.
Plasma lysophosphatidylcholine levels: potential biomarkers for colorectal cancer.
PURPOSE Plasma levels of lysophospholipids were evaluated as potential biomarkers for colorectal cancer (CRC), where a highly reliable and minimally invasive blood test is lacking. PATIENTS AND…
Defining Complex Contributions of NOD2/CARD15 Gene Mutations, Age at Onset, and Tobacco Use On Crohn's Disease Phenotypes
Carrying two NOD2 mutations predicts youthful onset, ileal disease involvement, and development of stricturing or non-perianal fistulizing complications in Crohn's disease patients.