A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease

  title={A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease},
  author={Yasunori Ogura and Denise K. Bonen and Naohiro Inohara and Dan L. Nicolae and Felicia F. Chen and Richard Ramos and Heidi M. Britton and Thomas M. Moran and Reda Karaliuskas and Richard H. Duerr and Jean-Paul Achkar and Steven R. Brant and Theodore M. Bayless and Barbara S. Kirschner and Stephen Hanauer and Gabriel N{\'u}{\~n}ez and Judy H. Cho},
Crohn's disease is a chronic inflammatory disorder of the gastrointestinal tract, which is thought to result from the effect of environmental factors in a genetically predisposed host. A gene location in the pericentromeric region of chromosome 16, IBD1, that contributes to susceptibility to Crohn's disease has been established through multiple linkage studies, but the specific gene(s) has not been identified. NOD2, a gene that encodes a protein with homology to plant disease resistance gene… 
Rational inferences about departures from Hardy-Weinberg equilibrium.
Results suggest that significant DHW can be expected in relatively small samples of patients over a range of genetic models, and propose a goodness-of-fit test to aid investigators in determining whether a DHW observed in the context of a case-control study is consistent with a genetic disease model.
for the Induction of Cytokine Release Domain-2 Modulates Specific TLR Pathways Nucleotide-Binding Oligomerization
The recognition of peptidoglycan by cells of the innate immune system has been controversial; both TLR2 and nucleotide-binding oligomerization domain-2 (NOD2) have been implicated in this process. In
Ubiquitination of ATF6 by disease-associated RNF186 promotes the innate receptor-induced unfolded protein response.
It is identified that RNF186 was required for PRR-induced, UPR-associated signaling leading to key macrophage functions; defined that R NF186-mediated ubiquitination of ATF6 was essential for these functions; and elucidated how RNF 186 IBD risk variants modulated these outcomes.
The Impact of NOD2 Genetic Variants on the Gut Mycobiota in Crohn’s Disease Patients in Remission and in Individuals Without Gastrointestinal Inflammation
This study confirms compositional changes in the gut mycobiota in CD and provides evidence that fungi may play a role in CD pathogenesis.
Autoinflammatory Diseases: From Genes To Bedside
Role of Metabolism in Regulating Immune Cell Fate Decisions
Missense mutation in PRKCQ is associated with Crohn's disease
Investigation of the prevalence of the PRKCQ rs2236379 variant in the Chinese Han population and evaluates whether the genetic variant of PR KCQ confers susceptibility to CD and is associated with its clinical characteristics.
Search for potential reading frameshifts in cds from Arabidopsis thaliana and other genomes
It is discussed the possibility that the reading frameshift seems like a relatively frequently encountered mutation; and this mutation could participate in the creation of new genes and proteins.


Construction of a BAC contig map of chromosome 16q by two-dimensional overgo hybridization.
An initial probe-content BAC map of chromosome 16q is constructed consisting of 828 overgo markers and 3363 BACs providing >85% coverage of the long arm of this chromosome.
Genetic Epidemiology in Inflammatory Bowel Disease
Earlier disease onset in offspring of patients with IBD have consistently been found, and genetic anticipation has been hypothesized, and the population relative risk in first-degree relatives of patients show a 14–15 times higher prevalence of IBD.
Analysis of Australian Crohn's disease pedigrees refines the localization for susceptibility to inflammatory bowel disease on chromosome 16
This work investigated the contribution of this localization to the inheritance of inflammatory bowel disease in 54 multiplex Australian families, and confirmed its importance in a significant proportion of Crohn's disease families; it was further refined to a region near to D16S409, obtaining a maximum LOD score.
Inflammatory bowel disease: etiology and pathogenesis.
The TDT and other family-based tests for linkage disequilibrium and association.
The properties of the TDT are compared with those of family-based tests of association, and issues regarding the use of these tests are commented on.
[Etiology and pathogenesis].
Nod2, a Nod1/Apaf-1 Family Member That Is Restricted to Monocytes and Activates NF-κB*
A subfamily of Apaf-1-like proteins that function through RICK to activate a NF-κB signaling pathway is defined, which contains a caspase recruitment domain linked to a nucleotide-binding domain and multiple C-terminal leucine-rich repeats.