NOD2

Summary

Gene Symbol: NOD2
Description: nucleotide-binding oligomerization domain containing 2
Summary: This gene is a member of the Nod1/Apaf-1 family and encodes a protein with two caspase recruitment (CARD) domains and six leucine-rich repeats (LRRs). The protein is primarily expressed in the peripheral blood leukocytes. It plays a role in the immune response to intracellular bacterial lipopolysaccharides (LPS) by recognizing the muramyl dipeptide (MDP) derived from them and activating the NFKB protein. Mutations in this gene have been associated with Crohn disease and Blau syndrome. [provided by RefSeq]
Alias: ACUG, BLAU, CARD15, CD, CLR16.3, IBD1, NLRC2, NOD2B, PSORAS1, NLR family, CARD domain containing 2, NOD-like receptor C2, caspase recruitment domain family, member 15, caspase recruitment domain protein 15, caspase recruitment domain-containing protein 15, inflammatory bowel disease protein 1, nucleotide-binding oligomerization domain 2, nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2, nucleotide-binding oligomerization domain-containing protein 2
Species: human

Webpages

  1. humangenetik bochum - research - publications
    www.ruhr-uni-bochum.de/mhg/FORSCHUNG/publikationen_e.htm
  2. samuel parry, m.d
    www.med.upenn.edu/crrwh/faculty/Parry/Parry.html
  3. ecat foundation - programme and cost 2009
    www.ecat.nl/content/view/45/74/index.html
  4. xiaojing ma, ph.d. - publications | weill cornell medical college
    www.med.cornell.edu/research/xma/publications.html
  5. space settlement contest 2001 results
    www.nas.nasa.gov/About/Education/SpaceSettlement/Contest/Res ...

Publications

  1. Descriptive features and causal attributions of headache in an Australian community
    E Fernandez
    Department of Psychology, Southern Methodist University, Dallas, TX 75275-0442, USA
    Headache 36:246-50
  2. Mycobacterium paratuberculosis is recognized by Toll-like receptors and NOD2
    Gerben Ferwerda
    Department of Internal Medicine and Nijmegen University Center for Infectious Diseases, Radboud University Nijmegen Medical Center, Geert Grooteplein Zuid 8, 6525 GA Nijmegen, The Netherlands
    J Leukoc Biol 82:1011-8
  3. Polymorphisms in NACHT-LRR (NLR) genes in atopic dermatitis
    Filippina Macaluso
    Department of Human Genetics, Ruhr University Bochum, Bochum, Germany
    Exp Dermatol 16:692-8
  4. Evaluating the role of the genetic variations of PTPN22, NFKB1, and FcGRIIIA genes in inflammatory bowel disease: a meta-analysis
    Anna Latiano
    Unità Operativa di Gastroenterologia e Laboratorio di Ricerca Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy
    Inflamm Bowel Dis 13:1212-9
  5. Genetic variants in the NOD2/CARD15 gene are associated with early mortality in sepsis patients
    Julia Brenmoehl
    University Hospital of Regensburg, Department of Internal Medicine I, 93042 Regensburg, Germany
    Intensive Care Med 33:1541-8
  6. Regulation of DMBT1 via NOD2 and TLR4 in intestinal epithelial cells modulates bacterial recognition and invasion
    Philip Rosenstiel
    Institute of Clinical Molecular Biology, University Hospital Schleswig Holstein, Campus Kiel, Schittenhelmstrache 12, Kiel, Germany
    J Immunol 178:8203-11
  7. A nonsynonymous SNP in ATG16L1 predisposes to ileal Crohn's disease and is independent of CARD15 and IBD5
    Natalie J Prescott
    Department of Medical and Molecular Genetics, King s College London School of Medicine, Guy s Hospital, London, UK
    Gastroenterology 132:1665-71
  8. Antibodies to proteinase 3 prime human monocytic cells via protease-activated receptor-2 and NF-kappaB for Toll-like receptor- and NOD-dependent activation
    Akiko Uehara
    Department of Microbiology and Immunology, Tohoku University Graduate School of Dentistry, Sendai 980 8575, Japan
    Mol Immunol 44:3552-62
  9. The prevalence of genetic and serologic markers in an unselected European population-based cohort of IBD patients
    Lene Riis
    Department of Medical Gastroenterology, Herlev Hospital, University of Copenhagen, Denmark
    Inflamm Bowel Dis 13:24-32
  10. CARD15 variants in patients with sporadic Parkinson's disease
    Monika Bialecka
    Department of Experimental and Clinical Pharmacology, Pomeranian Medical University, Szczecin, Poland
    Neurosci Res 57:473-6

Scientific Experts

Detail Information

Publications63

  1. Descriptive features and causal attributions of headache in an Australian community
    E Fernandez
    Department of Psychology, Southern Methodist University, Dallas, TX 75275-0442, USA
    Headache 36:246-50
    ..duration, etc), headache medication habits, and perceived causes of one's headache (as in the UK headache survey by Blau, 1990). Results revealed that the typical headache sufferer was a middle-aged employed individual...
  2. Mycobacterium paratuberculosis is recognized by Toll-like receptors and NOD2
    Gerben Ferwerda
    Department of Internal Medicine and Nijmegen University Center for Infectious Diseases, Radboud University Nijmegen Medical Center, Geert Grooteplein Zuid 8, 6525 GA Nijmegen, The Netherlands
    J Leukoc Biol 82:1011-8
    ..mutations in the intracellular pathogen recognition receptor (PRR) nucleotide-binding oligomerization domain 2 (NOD2). The aim of this study is to investigate the PRR involved in the recognition of M. paratuberculosis...
  3. Polymorphisms in NACHT-LRR (NLR) genes in atopic dermatitis
    Filippina Macaluso
    Department of Human Genetics, Ruhr University Bochum, Bochum, Germany
    Exp Dermatol 16:692-8
    ..in NLR genes for AD, we genotyped 23 single nucleotide polymorphisms (SNPs) in seven selected NLR genes (CARD4, CARD15, CARD12, NALP1, NALP3, NALP12, MHC2TA) in 392 AD patients and 297 controls by restriction enzyme digestion or ..
  4. Evaluating the role of the genetic variations of PTPN22, NFKB1, and FcGRIIIA genes in inflammatory bowel disease: a meta-analysis
    Anna Latiano
    Unità Operativa di Gastroenterologia e Laboratorio di Ricerca Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy
    Inflamm Bowel Dis 13:1212-9
    ..Allele and genotype frequencies were correlated with clinical characteristics and major variants of the CARD15 gene. Our findings were pooled in a meta-analysis with the available studies in the literature...
  5. Genetic variants in the NOD2/CARD15 gene are associated with early mortality in sepsis patients
    Julia Brenmoehl
    University Hospital of Regensburg, Department of Internal Medicine I, 93042 Regensburg, Germany
    Intensive Care Med 33:1541-8
    OBJECTIVE: Genetic variants in the NOD2/CARD15 gene resulting in a diminished capacity to activate NF-kappaB in response to bacterial cell wall products have been associated with Crohn's disease (CD)...
  6. Regulation of DMBT1 via NOD2 and TLR4 in intestinal epithelial cells modulates bacterial recognition and invasion
    Philip Rosenstiel
    Institute of Clinical Molecular Biology, University Hospital Schleswig Holstein, Campus Kiel, Schittenhelmstrache 12, Kiel, Germany
    J Immunol 178:8203-11
    ..Dysregulated intestinal DMBT1 expression due to mutations in the NOD2/CARD15 gene may be part of the complex pathophysiology of barrier dysfunction in Crohn's disease.
  7. A nonsynonymous SNP in ATG16L1 predisposes to ileal Crohn's disease and is independent of CARD15 and IBD5
    Natalie J Prescott
    Department of Medical and Molecular Genetics, King s College London School of Medicine, Guy s Hospital, London, UK
    Gastroenterology 132:1665-71
    ..K. Crohn's disease cases and 1235 controls to estimate disease risk and test for interaction with the CARD15 and IBD5 risk loci and for association with disease subtypes...
  8. Antibodies to proteinase 3 prime human monocytic cells via protease-activated receptor-2 and NF-kappaB for Toll-like receptor- and NOD-dependent activation
    Akiko Uehara
    Department of Microbiology and Immunology, Tohoku University Graduate School of Dentistry, Sendai 980 8575, Japan
    Mol Immunol 44:3552-62
    ..increase in cell-surface CD14, Toll-like receptor (TLR)2, TLR4 and intracellular TLR3, TLR7, TLR8, TLR9, NOD1 and NOD2 expression during anti-PR3 priming in human monocytic THP-1 cells...
  9. The prevalence of genetic and serologic markers in an unselected European population-based cohort of IBD patients
    Lene Riis
    Department of Medical Gastroenterology, Herlev Hospital, University of Copenhagen, Denmark
    Inflamm Bowel Dis 13:24-32
    ..We aimed to investigate the prevalence of polymorphisms in CARD15 and TLR4 and occurrence of anti-Saccharomyces cerevisiae (ASCA) and antineutrophil cytoplasmic antibodies (pANCA) ..
  10. CARD15 variants in patients with sporadic Parkinson's disease
    Monika Bialecka
    Department of Experimental and Clinical Pharmacology, Pomeranian Medical University, Szczecin, Poland
    Neurosci Res 57:473-6
    ..In the current study, the frequency of CARD15/NOD2 gene variants (R702W, G908R, L1007fs), previously associated with Crohn's disease--a common inflammatory ..
  11. Polymorphisms in genes related to bacterial lipopolysaccharide/peptidoglycan signaling and gastric precancerous lesions in a population at high risk for gastric cancer
    Ikuko Kato
    Karmanos Cancer Institute, 110 East Warren Avenue, Detroit, Michigan 48201, USA
    Dig Dis Sci 52:254-61
    ..The two NOD2 polymorphisms, del3020insC and Gly908Arg, were too infrequent to study their associations with gastric lesions...
  12. Associations between NOD2/CARD15 genotype and phenotype in Crohn's disease--Are we there yet?
    Graham Radford Smith
    IBD Unit, Department of Gastroenterology, Royal Brisbane and Womens Hospital, Brisbane, Queensland 4029, Australia
    World J Gastroenterol 12:7097-103
    There have been multiple NOD2/CARD15 genotype-phenotype analyses undertaken in patients with Crohn's disease since the gene's discovery in 2001...
  13. CARD15/NOD2, CD14, and toll-like receptor 4 gene polymorphisms in Greek patients with sarcoidosis
    Maria Gazouli
    Department of Histology Embryology, School of Medicine, University of Athens, Athens, Greece
    Sarcoidosis Vasc Diffuse Lung Dis 23:23-9
    ..These polymorphisms are in the CARD15/NOD2 gene (R702W, G908R and 3020insC), as well as mutations in the promoter of the CD14 gene (T/C at position -159)..
  14. The role of inflammatory bowel disease susceptibility loci in multiple sclerosis and systemic lupus erythematosus
    P L De Jager
    Center for Neurologic Diseases, Department of Neurology, Harvard Medical School and Brigham and Women s Hospital, MA, USA
    Genes Immun 7:327-34
    To date, three loci have been validated to confer susceptibility to inflammatory bowel disease (IBD): the CARD15/NOD2 gene, the discs large homolog 5 gene (DLG5), and the IBD5 locus on 5q31 (IBD5)...
  15. Polymorphisms within epithelial receptors: NOD2/CARD15
    Julia Brenmoehl
    Department of Internal Medicine I, University Medical Centre of Regensburg, Regensburg, Germany
    Methods Mol Med 134:115-22
    ..has focused on analysis of single-nucleotide polymorphisms (SNPs) within the intracytoplasmatic receptor NOD2/CARD15, which recognizes the bacterial cell wall compound muramyl-dipeptide and induces nuclear factor-kappaB-mediated ..
  16. Mutations in CARD15 and smoking confer susceptibility to Crohn's disease in the Danish population
    Anja Ernst
    Department of Clinical Biochemistry, Aalborg Hospital, Aarhus University Hospital, Aalborg, Denmark
    Scand J Gastroenterol 42:1445-51
    OBJECTIVE: Three CAspase Recruitment Domain (CARD15) mutations have shown to predispose to Crohn's disease in Caucasian populations...
  17. Identification of NOD2/CARD15 mutations in Malaysian patients with Crohn's disease
    Kek Heng Chua
    Department of Molecular Medicine, University of Malaya, Kuala Lumpur, Malaysia
    J Dig Dis 10:124-30
    OBJECTIVE: The NOD2/CARD15 gene has been identified as an important susceptibility gene for Crohn's disease (CD) but the three common disease predisposing mutations (DPM) found in developed countries have not been identified in Asian ..
  18. Pancreatic autoantibodies are associated with reactivity to microbial antibodies, penetrating disease behavior, perianal disease, and extraintestinal manifestations, but not with NOD2/CARD15 or TLR4 genotype in a Hungarian IBD cohort
    Peter Laszlo Lakatos
    1st Department of Medicine, Semmelweis University, Budapest, Hungary
    Inflamm Bowel Dis 15:365-74
    ..TLR4 and NOD2/CARD15 was tested by polymerase chain reaction / restriction fragment length polymorphism (PCR-RFLP)...
  19. Evidence for the involvement of NOD2 in regulating colonic epithelial cell growth and survival
    Sheena M Cruickshank
    the Institute of Food Research, Norwich Research Park, Norwich NR4 7UA, UK
    World J Gastroenterol 14:5834-41
    AIM: To investigate the function of NOD2 in colonic epithelial cells (CEC)...
  20. CARD15 gene polymorphisms in Serbian patients with Crohn's disease: genotype-phenotype analysis
    Marijana B Protic
    Center for Gastroenterology and Hepatology, University Clinical Center, Zvezdara, Belgrade, Serbia
    Eur J Gastroenterol Hepatol 20:978-84
    ..Studies in western Europe have shown that CARD15 polymorphisms increase susceptibility to CD, but frequencies vary within different European populations...
  21. Clinical and molecular characteristics of isolated colonic Crohn's disease
    Laura Hancock
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Inflamm Bowel Dis 14:1667-77
    ..001). There was no association with any of the known CD susceptibility loci (NOD2, IBD5, NOD1, IL23R, ATG16L1) and isolated colonic CD...
  22. Common nonsynonymous polymorphisms in the NOD2 gene are associated with resistance or susceptibility to tuberculosis disease in African Americans
    Celest M Austin
    Department of Pathology, Baylor College of Medicine, Houston, Texas 77030, USA
    J Infect Dis 197:1713-6
    Pattern-recognition receptors (PRRs) play a key role in innate immunity against intracellular bacteria. NOD2 is one of the PRRs that contribute to the immune response to Mycobacterium tuberculosis infection...
  23. No impact of NOD2/CARD15 on outcome after SCT
    D Sairafi
    Centre for Allogeneic Stem Cell Transplantation, Karolinska University Hospital, Stockholm, Sweden
    Bone Marrow Transplant 41:961-4
    ..studies have pointed towards an association between certain single nucleotide polymorphisms (SNPs) in the NOD2/CARD15 gene, and negative outcome of Allo-SCT...
  24. Two-stage candidate gene study of chromosome 3p demonstrates an association between nonsynonymous variants in the MST1R gene and Crohn's disease
    John B Beckly
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK
    Inflamm Bowel Dis 14:500-7
    ..77, 95% confidence interval [CI], 0.67-0.89]). No association was seen for UC. Epistasis was seen with the common CARD15 mutations (P = 0.00003 [corrected 0.0006], OR 0.48, 95% CI, 0.34-0.68). No LD was demonstrated with the WTCCC SNPs...
  25. Autophagy gene ATG16L1 influences susceptibility and disease location but not childhood-onset in Crohn's disease in Northern Europe
    J Van Limbergen
    Gastrointestinal Unit, Molecular Medicine Centre, Western General Hospital, University of Edinburgh, Crewe Road South, Edinburgh, UK
    Inflamm Bowel Dis 14:338-46
    ..The rs2241880A/G variant of the ATG16L1 gene has been associated with susceptibility to ileal Crohn's disease (CD) in adults...
  26. [CARD15 mutations are poorly related to Crohn's disease phenotypes in Asturias]
    L Rodrigo
    Servicios de Aparato Digestivo, Hospital Universitario Central de Asturias, Oviedo
    Rev Esp Enferm Dig 99:570-757
    BACKGROUND: the association between the three common CARD15 gene mutations (R702W, G908R, L1007fs) and the genetic susceptibility to Crohn s disease (CD) have been confirmed by several studies, with some differences found, in relation to ..
  27. IL23R R381Q and ATG16L1 T300A are strongly associated with Crohn's disease in a study of New Zealand Caucasians with inflammatory bowel disease
    Rebecca L Roberts
    Department of Pathology, University of Otago, Christchurch School of Medicine and Health Sciences, Christchurch, New Zealand
    Am J Gastroenterol 102:2754-61
    ..rs11209026 and rs2241880 genotype distributions were examined both within IBD clinical subphenotypes and CARD15 genotypes. RESULTS: rs11209026 and rs2241880 were both associated with CD (P valuers11209026=0.0026, OR 0...
  28. Crohn's disease incidence evolution in North-western Greece is not associated with alteration of NOD2/CARD15 variants
    Michael Economou
    1st Department of Internal Medicine and Hepato Gastroenterology Unit, University of Ioannina School of Medicine, Ioannina 45110, Greece
    World J Gastroenterol 13:5116-20
    ..Trends in disease incidence and genetic patterns related to CARD15 variants were documented and correlated. RESULTS: A total of 447 patients with IBD were recorded (23...
  29. Signalling pathways and molecular interactions of NOD1 and NOD2
    Warren Strober
    Mucosal Immunity Section, Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Building 10 CRC, 5W3940, 10 Center Drive, Bethesda, Maryland 20892, USA
    Nat Rev Immunol 6:9-20
    The NOD (nucleotide-binding oligomerization domain) proteins NOD1 and NOD2 have important roles in innate immunity as sensors of microbial components derived from bacterial peptidoglycan...
  30. CARD15 mutation analysis in an Italian population: Leu1007fsinsC but neither Arg702Trp nor Gly908Arg mutations are associated with Crohn's disease
    Piero Vavassori
    Cattedra di Gastroenterologia, Centro d eccellenza per lo studio del rischio genomico in patologie complesse e multifattoriali, Università Tor Vergata, Rome, Italy
    Inflamm Bowel Dis 10:116-21
    BACKGROUND: CARD15 gene mutations have been demonstrated to confer a high risk of Crohn's disease (CD)...
  31. Heterotypic interactions among NACHT domains: implications for regulation of innate immune responses
    Jason S Damiano
    The Burnham Institute, 10901 N Torrey Pines Road, La Jolla, CA 92037
    Biochem J 381:213-9
    ..Through heterotypic NACHT-domain interactions, CLAN was found to associate with Nod1, Nod2 and NAC [nucleotide-binding domain and CARD-containing protein; NALP1 (NACHT, LRR and PYRIN protein 1)] when co-..
  32. Reciprocal cross-talk between Nod2 and TAK1 signaling pathways
    Chuan Min Chen
    Division of Gastroenterology, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan 48109, USA
    J Biol Chem 279:25876-82
    Mutations in the leucine-rich repeat (LRR) domain of Nod2 have been implicated in the pathogenesis of Crohn's disease, yet the function of Nod2 and regulation of the Nod2 pathway remain unclear...
  33. Gene-environment interaction modulated by allelic heterogeneity in inflammatory diseases
    Mathias Chamaillard
    Fondation Jean Dausset, Centre d Etude du Polymorphisme Humain, 27 rue Juliette Dodu, 75010 Paris, France
    Proc Natl Acad Sci U S A 100:3455-60
    b>CARD15 is a major susceptibility gene for a frequent multifactorial chronic inflammatory bowel disorder, Crohn disease (CD)...
  34. Genetic evidence for interaction of the 5q31 cytokine locus and the CARD15 gene in Crohn disease
    Muddassar M Mirza
    Division of Medical and Molecular Genetics, Guy s, King s, and Thomas s School of Medicine, King s College London, Guy s Hospital, London, United Kingdom
    Am J Hum Genet 72:1018-22
    ..Stratification of offspring with CD in the TDT sample by mutation status in the CD susceptibility gene CARD15 showed that the association with the 5q31 risk haplotype was present only in offspring with at least one of the ..
  35. Genetics of inflammatory bowel disease: scientific and clinical implications
    J Satsangi
    Gastrointestinal Unit, Western General Hospital, Edinburgh, EH4 2XU, UK
    Best Pract Res Clin Gastroenterol 17:3-18
    ..The identification of the IBD1 gene on chromosome 16 as NOD-2 is unquestionably an important scientific discovery...
  36. Crohn's disease-associated NOD2 variants share a signaling defect in response to lipopolysaccharide and peptidoglycan
    Denise K Bonen
    Martin Boyer Laboratories, Gastroenterology Section, Department of Medicine, University of Chicago Hospitals, Chicago, Illinois, USA
    Gastroenterology 124:140-6
    BACKGROUND & AIMS: The NOD2 variants R702W, G908R, and L1007fsinsC are strongly associated with Crohn's disease (CD) in both European and American populations, but whether this susceptibility extends to all ethnic groups remains ..
  37. Fine mapping of the IBD1 locus did not identify Crohn disease-associated NOD2 variants: implications for complex disease genetics
    David A van Heel
    Gastroenterology Unit, University of Oxford, Oxford, UK
    Am J Med Genet 111:253-9
    ..Recently, polymorphisms in NOD2 (CARD15), a gene mapping to the chromosome 16 IBD1 susceptibility locus, have been associated with susceptibility to CD...
  38. NOD2/CARD15 does not influence response to infliximab in Crohn's disease
    Severine Vermeire
    Department of Gastroenterology, UZ Gasthuisberg, Leuven, Belgium
    Gastroenterology 123:106-11
    BACKGROUND & AIMS: NOD2/CARD15 was recently identified as the first gene underlying Crohn's disease (CD) susceptibility...
  39. [Role of NOD2 gene in Crohn's disease]
    Jean-Pierre Hugot
    Gastroenterol Clin Biol 26:13-5
  40. The contribution of NOD2 gene mutations to the risk and site of disease in inflammatory bowel disease
    Andrew P Cuthbert
    Division of Medical and Molecular Genetics, Guy s, King s, and St Thomas School of Medicine, London, England, United Kingdom
    Gastroenterology 122:867-74
    BACKGROUND & AIMS: Mutations in the NOD2 gene are strongly associated with susceptibility to Crohn's disease (CD)...
  41. Radiological sacroiliitis, a hallmark of spondylitis, is linked with CARD15 gene polymorphisms in patients with Crohn's disease
    H Peeters
    Department of Gastroenterology, Ghent University Hospital, Ghent, Belgium
    Ann Rheum Dis 63:1131-4
    ..Polymorphisms in the CARD15 gene have been linked to higher susceptibility for Crohn's disease...
  42. Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome
    Nobuo Kanazawa
    Department of Dermatology, Graduate School of Medicine, Kyoto University, 54 Kawahara cho, Shogoin, Sakyo ku, Kyoto 606 8507, Kyoto, Japan
    Blood 105:1195-7
    ..Recent discovery of CARD15 mutations in BS families encouraged us to investigate similar CARD15 mutations in EOS patients...
  43. Impaired dendritic cell function in Crohn's disease patients with NOD2 3020insC mutation
    Matthijs Kramer
    Department of Tumor Immunology, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Geert Grooteplein 28, 6525 GA, Nijmegen, The Netherlands
    J Leukoc Biol 79:860-6
    The nucleotide oligomerization domain 2 (NOD2) 3020insC (NOD2fs) mutation increases susceptibility to Crohn's disease (CD), but the mechanism remains controversial...
  44. Variants of OCTN1-2 cation transporter genes are associated with both Crohn's disease and ulcerative colitis
    O Palmieri
    Divisione di Gastroenterologia, Ospedale CSS IRCCS, San Giovanni Rotondo, Italy
    Aliment Pharmacol Ther 23:497-506
    ..AIM: To investigate these variants in CD and ulcerative colitis (UC), and their interaction with CARD15 gene and correlation to clinical subphenotypes...
  45. Association of NOD2/CARD15 mutations with previous surgical procedures in Crohn's disease
    M Barreiro
    Department of Gastroenterology, Hospital Clínico Universitario de Santiago de Compostela, Spain
    Rev Esp Enferm Dig 97:547-53
    OBJECTIVE: The aim of this study is to assess the importance of NOD2/CARD15 gene mutations as prognostic factors for surgical indications in Crohn's disease...
  46. Evidence for common genetic control in pathways of inflammation for Crohn's disease and psoriatic arthritis
    Pauline Ho
    University of Manchester, Stopford Building, Oxford Road, Manchester M13 9PT, UK
    Arthritis Rheum 52:3596-602
    ..In a previous study, a Crohn's disease gene, CARD15, was demonstrated to be associated with psoriatic arthritis (PsA)...
  47. Innate immune receptor genetic polymorphisms in pouchitis: is CARD15 a susceptibility factor?
    Carmen B Meier
    Department of Medicine, Division of Gastroenterology, Hepatology and Nutrition, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15261, USA
    Inflamm Bowel Dis 11:965-71
    ..innate immune receptors toll-like receptor (TLR)4 and caspase activation and recruitment domain family member 15 (CARD15) genes are associated with pouchitis...
  48. Consequence of functional Nod2 and Tlr4 mutations on gene transcription in Crohn's disease patients
    Henri Braat
    Department of Experimental Internal Medicine, Academic Medical Center, P O Box 22700, Meibergdreef 9, 1100 DE Amsterdam, The Netherlands
    J Mol Med 83:601-9
    ..The incidence of three single nucleotide polymorphisms (SNPs) within the Nod2 gene and one functional SNP within both the Tlr4 and Tlr5 gene in a Dutch cohort of 637 patients with inflammatory ..
  49. CARD15/NOD2 polymorphisms do not explain concordance of Crohn's disease in Swedish monozygotic twins
    J Halfvarson
    Division of Gastroenterology, Department of Internal Medicine, Orebro University Hospital, 701 85 Orebro, Sweden
    Dig Liver Dis 37:768-72
    BACKGROUND: CARD15/NOD2 polymorphisms are associated with Crohn's disease. There is a high concordance for disease and disease phenotype in monozygotic twin pairs with Crohn's disease...
  50. Recent advances in the genetics of inflammatory bowel disease
    Bill Newman
    Academic Department of Medical Genetics, University of Manchester, Manchester, United Kingdom
    Curr Opin Gastroenterol 21:401-7
    ..The article discusses current information on the relation between CARD15 variants and Crohn disease and the discoveries of SLC22A4/SLC22A5 and DLG5 gene variants that also confer risk for ..
  51. A functional interleukin-10 mutation in Dutch patients with Crohn's disease
    K van der Linde
    Department of Gastroenterology and Hepatology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands
    Dig Liver Dis 37:330-5
    ..Additionally, mutation carriers and their relatives were evaluated for CARD15 R702W, G908R, and 1007fs...
  52. GRIM-19 interacts with nucleotide oligomerization domain 2 and serves as downstream effector of anti-bacterial function in intestinal epithelial cells
    Nicolas Barnich
    Gastrointestinal Unit, Department of Medicine, Center for the Study of Inflammatory Bowel Disease, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA
    J Biol Chem 280:19021-6
    Nucleotide oligomerization domain 2 (NOD2) functions as a mammalian cytosolic pathogen recognition molecule, and variants have been associated with risk for Crohn disease...
  53. A risk haplotype in the Solute Carrier Family 22A4/22A5 gene cluster influences phenotypic expression of Crohn's disease
    Bill Newman
    Department of Medicine, University of Toronto, Toronto, Ontario, Canada
    Gastroenterology 128:260-9
    ..Here we examine the contribution of this susceptibility haplotype alone and in combination with CARD15 variants to CD subphenotypes and to susceptibility to ulcerative colitis (UC)...
  54. Association between polymorphisms in the Toll-like receptor 4, CD14, and CARD15/NOD2 and inflammatory bowel disease in the Greek population
    Maria Gazouli
    Department of Histology Embryology, 53 Antaiou St Ano Patisia, 11146 Athens, Greece
    World J Gastroenterol 11:681-5
    ..Apart from CARD15/NOD2 gene, evidence is accumulating that molecules related to the innate immune response such as CD14 or Toll-like ..
  55. Analysis of CARD15 polymorphisms in Korean patients with ankylosing spondylitis reveals absence of common variants seen in western populations
    Tae Hwan Kim
    Hospital for Rheumatic Diseases, Hanyang University, Seoul, Korea
    J Rheumatol 31:1959-61
    ..Recently, CARD15, located in chromosome 16q12, has been established as a disease susceptibility gene for Crohn's disease, Blau ..
  56. Susceptibility locus for inflammatory bowel disease on chromosome 16 has a role in Crohn's disease, but not in ulcerative colitis
    J D Ohmen
    GenoMed Pharmaceuticals, Inc, Beverly Hills CA 90211, USA
    Hum Mol Genet 5:1679-83
    In the Western world, chronic inflammatory bowel disease (IBD) presents as two major clinical forms, Crohn's disease (CD) and ulcerative colitis (UC) [Targan, S.R. and Shanahan, F. (1994). In Retford, D.C (ed...
  57. NOD2/CARD15 gene polymorphisms and Crohn's disease in the Chinese population
    R W L Leong
    Department of Medicine and Therapeutics, Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong, China
    Aliment Pharmacol Ther 17:1465-70
    ..Three single nucleotide polymorphisms (SNPs) of the NOD2/CARD15 gene have been identified to be independently associated with the development of Crohn's disease in Caucasians...