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Open AccessIdentifying high-impact variants and genes in exomes of Ashkenazi Jewish inflammatory bowel disease patients
Inflammatory bowel disease (IBD) is a group of chronic digestive tract inflammatory conditions whose genetic etiology is still poorly understood. The incidence of IBD is particularly high among Ashkenazi Jews....
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Article
Existing Bowel Preparation Quality Scales Are Reliable in the Setting of Centralized Endoscopy Reading
Development of bowel preparation products has been based upon colon cleansing rating by a local endoscopist. It is unclear how bowel preparation scales perform when centrally evaluated.
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Large-scale sequencing identifies multiple genes and rare variants associated with Crohn’s disease susceptibility
Genome-wide association studies (GWASs) have identified hundreds of loci associated with Crohn’s disease (CD). However, as with all complex diseases, robust identification of the genes dysregulated by noncodin...
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Open AccessMeta-analysis of gene expression disease signatures in colonic biopsy tissue from patients with ulcerative colitis
Publicly available ulcerative colitis (UC) gene expression datasets from observational studies and clinical trials include inherently heterogeneous disease characteristics and methodology. We used meta-analysi...
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Open AccessAssociations of NOD2 polymorphisms with Erysipelotrichaceae in stool of in healthy first degree relatives of Crohn’s disease subjects
Genetic analyses have identified many variants associated with the risk of inflammatory bowel disease (IBD) development. Among these variants, the ones located within the NOD2 gene have the highest odds ratio of ...
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Stricturing and Fistulizing Crohn’s Disease Is Associated with Anti-tumor Necrosis Factor-Induced Psoriasis in Patients with Inflammatory Bowel Disease
Paradoxical development of psoriasis in patients on anti-TNF agents has been increasingly reported.
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Article
Rates and Predictors of Endoscopic and Clinical Recurrence After Primary Ileocolic Resection for Crohn’s Disease
The utility of postoperative medical prophylaxis (POMP) and the treatment of mild endoscopic recurrence remain controversial.
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Association of host genome with intestinal microbial composition in a large healthy cohort
Kenneth Croitoru, Andrew Paterson and colleagues perform genome-wide association analysis for gut microbiome composition. They identify 58 SNPs significantly associated with relative abundance of 33 taxa and r...
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Open AccessErratum: A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis
Nature Communications 7 Article number: 12342 (2016); Published 9 August 2016; Updated 13 September 2016 The HTML version of this Article incorrectly listed the authors of the UK IBD Genetics Consortium and th...
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Open AccessA protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis
Protein-truncating variants protective against human disease provide in vivo validation of therapeutic targets. Here we used targeted sequencing to conduct a search for protein-truncating variants conferring prot...
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Article
Open AccessGenetic sharing and heritability of paediatric age of onset autoimmune diseases
Autoimmune diseases (AIDs) are polygenic diseases affecting 7–10% of the population in the Western Hemisphere with few effective therapies. Here, we quantify the heritability of paediatric AIDs (pAIDs), includ...
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Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases
A meta-analysis across ten pediatric autoimmune diseases reveals shared genetic architecture and novel susceptibility loci.
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Open AccessAssociations between host gene expression, the mucosal microbiome, and clinical outcome in the pelvic pouch of patients with inflammatory bowel disease
Pouchitis is common after ileal pouch-anal anastomosis (IPAA) surgery for ulcerative colitis (UC). Similar to inflammatory bowel disease (IBD), both host genetics and the microbiota are implicated in its patho...
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Open AccessComplex host genetics influence the microbiome in inflammatory bowel disease
Human genetics and host-associated microbial communities have been associated independently with a wide range of chronic diseases. One of the strongest associations in each case is inflammatory bowel disease (...
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HLA-DQA1–HLA-DRB1 variants confer susceptibility to pancreatitis induced by thiopurine immunosuppressants
Graham Heap, Tariq Ahmad and colleagues show that common variants in the HLA-DQA1–HLA-DRB1 region confer susceptibility to thiopurine-induced pancreatitis in individuals undergoing treatment for inflammatory bowe...
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Dense genoty** of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis
Tom Karlsen and colleagues report an association study for primary sclerosing cholangitis (PSC), a severe liver disease, using the Immunochip array. They identify nine loci newly associated with PSC and examin...
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Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease
A meta-analysis of previous genome-wide association studies of Crohn’s disease and ulcerative colitis, the two most common forms of inflammatory bowel disease, with a combined total of more than 75,000 cases a...
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Have Genomic Discoveries in Inflammatory Bowel Disease Translated into Clinical Progress?
Inflammatory bowel disease (IBD) is a heterogeneous disease that can be challenging to diagnose and manage. As a result, significant efforts have been made in attempting to identify clinical, genomic, and sero...
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Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease
Mark Daly, Manuel Rivas and colleagues used next-generation sequencing to study the coding exons of 56 genes from regions previously associated with Crohn's disease. Follow-up analyses in independent case-cont...
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Correction: Corrigendum: Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47
Nat. Genet. 43, 246–252 (2011); published online 6 February 2011; corrected after print 11 August 2011 In the version of this article initially published, an affiliation was missing for two authors, Maria Gazo...