574 results match your criteria Crohn's Disease and NOD2 CARD15


Detection of mutations in gene in Arab patients with Crohn's disease.

Saudi J Gastroenterol 2021 Jul-Aug;27(4):240-248

Department of Research Core Facility, OMICS Research Unit, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.

Background: Mutations in NOD2/CARD15 gene have been linked to an increased risk of Crohn's disease (CD). The objective of this study is to determine NOD2/CARD15 gene mutations, and their association with the risk of CD in Arabs in Kuwait.

Methods: Four NOD2 gene mutations, including Pro268Ser (SNP5), Arg702Trp (SNP8), Gly908Arg (SNP12), and Leu1007FsinsC (SNP13) were examined in Arab CD patients (n = 103) and control subjects (n = 100). Read More

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October 2021

polymorphisms (P268S, IVS8, G908R, L1007fs, R702W) among Kuwaiti patients with Crohn's disease: A case-control study.

Saudi J Gastroenterol 2021 Jul-Aug;27(4):249-256

Inserm U1256 « Nutrition - Genetics and Exposure to Environmental Risks - NGERE », University of Lorraine, Vandoeuvre-les-Nancy; InsermU954, Department of Gastroenterology, Nancy University Hospital, University of Lorraine, Vandoeuvre Les Nancy, France.

Background: Nucleotide-binding oligomerization domain-containing two (NOD2/CARD15) gene polymorphisms are implicated in the pathogenesis of Crohn's disease (CD).

Aim: To describe the allelic frequency of NOD2/CARD15 gene variants among Kuwaiti patients with CD and investigate potential genotype/phenotype associations.

Methods: Adult Kuwaiti citizens with an established diagnosis of CD and healthy controls were enrolled from October 2018 to May 2020. Read More

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October 2021

Long-Term Follow-Up, Association between CARD15/NOD2 Polymorphisms, and Clinical Disease Behavior in Crohn's Disease Surgical Patients.

Mediators Inflamm 2021 24;2021:8854916. Epub 2021 Feb 24.

Department of Biomedical Experimental and Clinical Sciences, "Mario Serio", Italy.

Background: CARD15/NOD2 is the most significant genetic susceptibility in Crohn's disease (CD) even though a relationship between the different polymorphisms and clinical phenotype has not been described yet. The study is aimed at analyzing, in a group of CD patients undergoing surgery, the relationship between CARD15/NOD2 polymorphisms and the clinical CD behavior after a long-term follow-up, in order to identify potential clinical biomarkers of prognosis.

Methods: 191 surgical CD patients were prospectively characterized both for the main single nucleotide polymorphisms of CARD15/NOD2 and for many other environmental risk factors connected with the severe disease form. Read More

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November 2021

Predicting Outcomes in Pediatric Crohn's Disease for Management Optimization: Systematic Review and Consensus Statements From the Pediatric Inflammatory Bowel Disease-Ahead Program.

Gastroenterology 2021 01 23;160(1):403-436.e26. Epub 2020 Sep 23.

IBD Centre, SickKids Hospital, University of Toronto, Toronto, Canada. Electronic address:

Background & Aims: A better understanding of prognostic factors within the heterogeneous spectrum of pediatric Crohn's disease (CD) should improve patient management and reduce complications. We aimed to identify evidence-based predictors of outcomes with the goal of optimizing individual patient management.

Methods: A survey of 202 experts in pediatric CD identified and prioritized adverse outcomes to be avoided. Read More

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January 2021

Identifying the Neurogenetic Framework of Crohn's Disease Through Investigative Analysis of the Nucleotide-binding Oligomerization Domain-containing Protein 2 Gene Mutation.

Cureus 2019 Sep 17;11(9):e5680. Epub 2019 Sep 17.

Medicine, Sylhet Mag Osmani Medical College and Hospital, Sylhet, BGD.

Among several inflammatory bowel diseases, Crohn's disease is associated with inflammation that may take place in any region of the gastrointestinal tract. The inflammatory process is most commonly associated with the ileum, often spreading deep into the bowel tissues, extending into multiple forms, such as strictures and penetrations. Currently, Crohn's disease has no known cure. Read More

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September 2019

Ethnic Variations in Inflammatory Bowel Diseases Among Israel's Populations.

Isr Med Assoc J 2019 Oct;21(10):662-665

Department of Gastroenterology and Liver Diseases, Hadassah-Hebrew University Medical Center, Ein Kerem Campus, Jerusalem, Israel.

Background: Crohn's disease and ulcerative colitis are the two major classic presentations of inflammatory bowel diseases (IBD). Studies have shown a wide variation in the incidence and prevalence attributed to different geographic and ethnic populations.

Objectives: To assess the clinical characteristics of IBD among Arabs in Israel and to compare them to characteristics of IBD among Ashkenazi Jews. Read More

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October 2019

Multiplex gene expression profile in inflamed mucosa of patients with Crohn's disease ileal localization: A pilot study.

World J Clin Cases 2019 Sep;7(17):2463-2476

Department of Experimental and Clinical Biomedical Sciences "Mario Serio", University of Firenze, Firenze 50134, Italy.

Background: Crohn's disease (CD) is a complex disorder resulting from the interaction of genetic, environmental, and microbial factors. The pathogenic process may potentially affect any segment of the gastrointestinal tract, but a selective location in the terminal ileum was reported in 50% of patients.

Aim: To characterize clinical sub-phenotypes (colonic and/or ileal) within the same disease, in order to identify new therapeutic targets. Read More

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September 2019

Genetic Studies of Inflammatory Bowel Disease-Focusing on Asian Patients.

Cells 2019 05 1;8(5). Epub 2019 May 1.

Division of Gastroenterology and Hepatology, Department of Internal Medicine, Korea University Anam Hospital, Korea University College of Medicine, 73, Inchon-ro, Seongbuk-gu, Seoul 02841, Korea.

The pathogenesis of inflammatory bowel disease (IBD) is not well-understood; however, increased and persistent intestinal inflammation, due to inappropriate immune responses that are caused by interactions between genetic factors, gut microbiota, and environmental factors, are thought to lead to IBD. Various studies have identified more than 240 genetic variants related to IBD. These genetic variants are involved in innate and adaptive immunity, autophagy, defective bacterial handing, interleukin-23 and 10 signaling, and so on. Read More

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Single Nucleotide Polymorphisms in Selected Genes in Inflammatory Bowel Disease.

Biomed Res Int 2018 17;2018:6914346. Epub 2018 Dec 17.

Chair of Medical Genetics, Department of Clinical Genetics, Medical University of Lublin, 20-080 Lublin, Poland.

Introduction: Inflammatory bowel disease (IBD) is a complicated, multifunctional disorder characterized by chronic, recurring inflammation of the digestive tract. The two main types of IBD are ulcerative colitis (UC) and Crohn's disease (CD). The aim of the study was to determine single nucleotide polymorphism in fragments of the genes and in patients from the Lublin Voivodeship. Read More

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NOD2/CARD15 Mutations among Bedouin Arabs with Inflammatory Bowel Disease: Frequency and Phenotype Correlation.

Isr Med Assoc J 2018 Nov;20(11):695-699

Department of Internal Medicine C, Rambam Medical Center, Technion-Israel Institute of Technology, Haifa, Israel.

Background: Inflammatory bowel disease (IBD) prevalence is increasing among Bedouin Arabs in Israel. This population is known to have a high rate of consanguinity. NOD2/CARD15 mutations are well-studied in IBD. Read More

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November 2018

CTLA-4 (+49A/G) and NOD2/CARD15 (N852S) polymorphisms with inflammatory bowel disease in Turkish patients.

Cell Mol Biol (Noisy-le-grand) 2018 Aug 30;64(11):97-101. Epub 2018 Aug 30.

Department of Gastroenterology, Faculty of Medicine, University of Mersin, Mersin, Turkey.

Crohn's disease (CD) and ulcerative colitis (UC) are the major types of inflammatory bowel disease (IBD) and exhibit similar clinical features and epidemiology. The main objective of this study was to analyze the correlation between the CTLA-4 gene +49A/G polymorphism and the NOD2/CARD15 gene N852S polymorphism in Turkish patients with IBD using polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) analysis. In this study, we evaluated the frequency of the CTLA-4 (+49A/G) and NOD2/CARD15 (N852S) polymorphisms in 62 patients with CD, 76 patients with UC, and 152 healthy individuals. Read More

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The role of the NOD2/CARD15 gene in surgical treatment prediction in patients with Crohn's disease.

Int J Colorectal Dis 2019 Feb 2;34(2):347-351. Epub 2018 Aug 2.

Department of Surgery, University Hospital Brno Bohunice, Faculty of Medicine, Masaryk University, Jihlavska 20, 62500, Brno, Czech Republic.

Purpose: Crohn's disease (CD) belongs to chronic disorders with unpredictable disease course. The aim of this study was to identify how genetic testing (NOD2/CARD15) can be used in patients with CD to predict the need for surgical treatment (to define an aggressive type of disease where the patient can profit from early surgery).

Methods: The patients who were tested genetically had undergone a surgery due to CD at the Department of Surgery University Hospital Brno Bohunice between 2010 and 2016. Read More

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February 2019

Crohn's disease - genetic factors and progress of the disease.

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2018 Jun 18;162(2):139-143. Epub 2018 Jan 18.

Department of Internal Medicine, University Hospital Ostrava, Czech Republic.

Background And Objectives: Crohn's disease is a multifactorial inflammatory disease affecting mainly the gastrointestinal tract. The genetic factors that are involved in the disease include mainly three mutations of the gene NOD2/CARD15 (R702W, G908R, 3020insC). The aim of this study was to determine the relationship between the presence of these variants and disease phenotype. Read More

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Genetic association and phenotypic correlation of TLR4 but not NOD2 variants with Tunisian inflammatory bowel disease.

J Dig Dis 2017 Nov;18(11):625-633

Department of Immunology, Habib Bourguiba University Hospital, Sfax, Tunisia.

Objective: The common association between NOD2/CARD15 and TLR4 gene variants with inflammatory bowel disease (IBD) has not been replicated in all studies. We studied the polymorphism of these two genes in Tunisian patients with IBD.

Methods: Polymorphisms of NOD2 (R702W, G908R and L1007fs) and TLR4 (Asp299Gly and Thr399Ile) genes were analyzed in 106 patients with IBD (68 with ulcerative colitis [UC], 38 with Crohn's disease [CD]) and 160 healthy controls using polymerase chain reaction-restriction fragment length polymorphism. Read More

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November 2017

[NOD2 gene mutation in Moroccan patients with Crohn's disease: prevalence, genotypic study and correlation of NOD2 gene mutation with the phenotype of Crohn's disease].

Pan Afr Med J 2017 14;27:116. Epub 2017 Jun 14.

Service d'Hépato-Gastroentérologie «B», Centre Hospitalier Universitaire Ibn Sina, Rabat, Maroc.

The aim of this study was to determine the prevalence of NOD2/CARD15 gene mutations in a group of Moroccan patients with Crohn's disease and to study its correlation with genotype-phenotypic expression. We conducted a cross-sectional case-control study over a period of 16 months. 101 patients with Crohn's disease were enrolled between January 2012 and April 2013 as well as a control group of 107 patients. Read More

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September 2017

Prognostic factors affecting outcomes in fistulating perianal Crohn's disease: a systematic review.

Tech Coloproctol 2017 Jul 20;21(7):501-519. Epub 2017 Jun 20.

Department of General Surgery, Northern General Hospital, Herries Road, Sheffield, S5 7AU, UK.

Background: One in three patients with Crohn's disease will develop a perianal fistulae, and one third of these will achieve long-term healing or closure. A barrier to conducting well-designed clinical trials for these patients is a lack of understanding of prognostic factors. This systematic review sets out to identify factors associated with prognosis of perianal Crohn's fistulae. Read More

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Intestinal Bacteria Composition and Translocation of Bacteria in Inflammatory Bowel Disease.

PLoS One 2017 18;12(1):e0170034. Epub 2017 Jan 18.

Department of Basic Medical Sciences, Laboratory of Biology, Medical School, National and Kapodistrian University of Athens, Athens, Greece.

Background: Live commensal intestinal bacteria are present in the peripheral blood where they can induce inflammation.

Objective: To evaluate the intestinal bacteria composition and translocation of bacteria in IBD.

Methods: Both blood and tissue biopsy samples were collected from adult patients with active/inactive Crohn's disease (CD), active/inactive ulcerative colitis (UC) and healthy individuals. Read More

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Impact of NOD2/CARD15 polymorphisms on response to monoclonal antibody therapy in Crohn's disease: a systematic review and meta-analysis.

Curr Med Res Opin 2016 12 16;32(12):2007-2012. Epub 2016 Sep 16.

b Tongji University School of Medicine , Shanghai , China.

Objective: Crohn's disease (CD) is frequently treated with anti-tumor necrosis factor (TNF)α monoclonal antibodies, and NOD2/CARD15 polymorphisms have been reported to predict treatment response. The purpose of this study was to perform a meta-analysis to determine the effect of NOD2/CARD15 polymorphisms on treatment response in patients with CD.

Methods: Medline, Cochrane, EMBASE, and Google Scholar databases were searched until 19 December 2015 using the keywords: NOD2, CARD15, polymorphism, Crohn's disease. Read More

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December 2016

Common NOD2/CARD15 and TLR4 Polymorphisms Are Associated with Crohn's Disease Phenotypes in Southeastern Brazilians.

Dig Dis Sci 2016 09 23;61(9):2636-47. Epub 2016 Apr 23.

Serviço de Gastroenterologia, Departamento de Clínica Médica, Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, 21941-913, Brazil.

Aim: To investigate whether variants in NOD2/CARD15 and TLR4 are associated with CD and ulcerative colitis (UC) in a genetically admixed population of Rio de Janeiro, where IBD has continued to rise.

Methods: We recruited 67 consecutive patients with CD, 61 patients with UC, and 86 healthy and ethnically matched individuals as controls. DNA was extracted from buccal brush samples and genotyped by PCR with restriction enzymes for G908R and L1007finsC NOD2/CARD15 single-nucleotide polymorphisms (SNPs) and for T399I and D299G TLR4 SNPs. Read More

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September 2016

Melkersson-Rosenthal Syndrome with Genitalia Involved in a 12-Year-Old Boy.

Ann Dermatol 2016 Apr 31;28(2):232-6. Epub 2016 Mar 31.

Department of Dermatology, Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China.

Melkersson-Rosenthal syndrome (MRS) is an uncommon granulomatous disease characterized by the triad of relapsing facial paralysis, orofacial swelling, and fissured tongue. Genital swelling in MRS is rarely reported. We presented the first case of complete MRS with genital swelling in a child. Read More

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Disease duration and age influence CARD15 expression in Crohn's disease.

Postepy Hig Med Dosw (Online) 2016 Jan 5;70:10-3. Epub 2016 Jan 5.

Department of Forensic Science, Wroclaw Medical University, Poland.

One of the susceptibility genes in Crohn's disease (CD) is CARD15. Our study examined the relationship between peripheral CARD15 expression and phenotype and duration of CD, treatment methods and inflammatory indices. Sixty patients with CD and 30 healthy volunteers as controls were enrolled in the study. Read More

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January 2016

Autoinflammatory granulomatous diseases: from Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohn's disease.

RMD Open 2015 20;1(1):e000097. Epub 2015 Jul 20.

Rheumatology Unit, Department of Medicine DIMED , University of Padova , Padova , Italy.

The recent identification of genetic mutations leading to dysfunction of inflammatory and apoptotic pathways, has allowed to characterise a group of diseases, recognised as monogenic autoinflammatory syndromes. Among those, Blau syndrome (BS) and early-onset sarcoidosis (EOS) have been identified as familial and sporadic phenotypes of the same non-caseating granulomatous form. Both the diseases are caused by mutations in the CARD15/NOD2 gene, encoding the cytosolic NOD2 protein, one of the key molecules in the regulation of innate immunity. Read More

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October 2015

NOD2/CARD15 mutations and the risk of reoperation in patients with Crohns disease.

Rozhl Chir 2015 Jun;94(6):242-6

Introduction: Three NOD2/CARD15 gene variants (3020insC, R702W, G908R) have been identified as genetic risk factors for Crohns disease patients. However the diagnostic and therapeutic relevance for clinical practice remains limited. The aim of this study was to evaluate the association between these variants, the risk of reoperation and disease phenotype. Read More

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NOD2/CARD15 gene mutations in North Algerian patients with inflammatory bowel disease.

World J Gastroenterol 2015 Jul;21(25):7786-94

Aziza Boukercha, Hamida Mesbah-Amroun, Amira Bouzidi, Chafia Touil-Boukoffa, Team Cytokines and NO Synthases, Laboratory of Cellular and Molecular Biology, Faculty of Biological Sciences, University of Sciences and Technology Houari Boumediene, Algiers 16111, Algeria.

Aim: To analyse allelic frequency of NOD2 gene variants and to assess their correlation with inflammatory bowel disease (IBD) in Algeria.

Methods: We studied 132 unrelated patients diagnosed with IBD, 86 with Crohn's disease (CD) and 46 with ulcerative colitis (UC). Data was prospectively collected between January 2011 and December 2013. Read More

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CARD15 gene overexpression reduces effect of etanercept, infliximab, and adalimumab on cytokine secretion from PMA activated U937 cells.

Eur J Pharmacol 2015 Sep 21;762:394-401. Epub 2015 Jun 21.

Pediatric Infectious Diseases Research Center, Department of Infectious Diseases, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran; Cell and Molecular Biology Department, Pharmaceutical Science Branch, Islamic Azad University, Tehran, Iran.

Crohn's disease (CD), a subcategory of inflammatory bowel disease, is an immune-related disorder characterized by inflammation of the gastrointestinal mucosa, which can take place in any region along the alimentary tract. The most important gene involved in the etiology of CD is NOD2/CARD15 located on chromosome 16. It has been shown that CARD15 is overexpressed in monocytes of CD patients. Read More

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September 2015

NOD2/CARD15 mutations in Polish and Bosnian populations with and without Crohn's disease: prevalence and genotype-phenotype analysis.

Bosn J Basic Med Sci 2015 May 25;15(2):67-72. Epub 2015 May 25.

Department of Gastroenterology and Hepatology University Clinical Center Tuzla.

Data on prevalence and phenotypic consequences of nucleotide-binding oligomerisation domain 2/caspase recruitment domains 15 (NOD2/CARD15) variants in Crohn's disease (CD) population in Poland and Bosnia and Herzegovina (B&H) are nonexistent. We aimed to determine the prevalence of NOD2/CARD15 mutations and their association with disease phenotype in Polish and Bosnian patients with CD and in healthy controls. We prospectively recruited 86 CD patients and 83 controls in Poland and 30 CD patients and 30 controls in B&H, 229 in total. Read More

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NOD2/CARD15 gene influences disease behaviour but not IBD susceptibility in a Moroccan population.

Turk J Gastroenterol 2014 Dec;25 Suppl 1:122-8

Laboratory of Medical Genetics, Medical School of Casablanca, Casablanca, Morocco; Center of Doctoral Sciences " in Health Sciences", University Ain Chock Hassan ii, Casablanca, Morocco.

Background/aims: IBD (Crohn's disease and Ulcerative Colitis) is chronic and multifactorial disease of the gastrointestinal tract. Till now, his pathogenesis remains unclear. It involves innate immunity, environmental component and genetic predisposition. Read More

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December 2014

Claudin-2 as a mediator of leaky gut barrier during intestinal inflammation.

Tissue Barriers 2015 3;3(1-2):e977176. Epub 2015 Apr 3.

Institute of Clinical Physiology; Department of Gastroenterology; Charité ; Berlin, Germany.

The epithelial tight junction determines the paracellular water and ion movement in the intestine and also prevents uptake of larger molecules, including antigens, in an uncontrolled manner. Claudin-2, one of the 27 mammalian claudins regulating that barrier function, forms a paracellular channel for small cations and water. It is typically expressed in leaky epithelia like proximal nephron and small intestine and provides a major pathway for the paracellular transport of sodium, potassium, and fluid. Read More

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Different expression of NOD2 in decidual stromal cells between normal and unexplained recurrent spontaneous abortion women during first trimester gestation.

Int J Clin Exp Pathol 2014 1;7(12):8784-90. Epub 2014 Dec 1.

Department of Obstetrics and Gynecology, Sun Yatsen Memorial Hospital of Sun Yatsen University Guangzhou, China.

The NOD2 gene, encoding intracellular paternal recognition receptor (PRR) also called caspase activation and recruitment domain 15 (CARD15), is mutated in Crohn's disease, an autoimmune-disorder. Unexplained recurrent spontaneous abortion (URSA) involved in complex auto-immune disorder. However, little is known about the expression of NOD2 protein at maternal-fetal interface with URSA patients. Read More

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October 2015

Crohn's disease: a role of gut microbiota and Nod2 gene polymorphisms in disease pathogenesis.

Acta Medica (Hradec Kralove) 2014 ;57(3):89-96

Department of Immunology and Gnotobiology, Institute of Microbiology, Academy of Sciences of the Czech Republic, Doly 183, 549 22 Nový Hrádek, Czech Republic.

Crohn's disease is a chronic immune-mediated intestinal inflammation targeted against a yet incompletely defined subset of commensal gut microbiota and occurs on the background of a genetic predisposition under the influence of environmental factors. Genome-wide association studies have identified about 70 genetic risk loci associated with Crohn's disease. The greatest risk for Crohn's disease represent polymorphisms affecting the CARD15 gene encoding nucleotide-binding oligomerization domain 2 (NOD2) which is an intracellular sensor for muramyl dipeptide, a peptidoglycan constituent of bacterial cell wall. Read More

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