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


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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http://dx.doi.org/10.7759/cureus.5680DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825438PMC
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
5 Reads
0.903 Impact Factor

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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http://dx.doi.org/10.12998/wjcc.v7.i17.2463DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6745337PMC
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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https://www.mdpi.com/2073-4409/8/5/404
Publisher Site
http://dx.doi.org/10.3390/cells8050404DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6563043PMC
May 2019
20 Reads

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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http://dx.doi.org/10.1155/2018/6914346DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6311883PMC
May 2019
12 Reads

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
23 Reads
0.903 Impact Factor

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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August 2018
15 Reads

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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http://dx.doi.org/10.1007/s00384-018-3122-7DOI Listing
February 2019
16 Reads

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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http://dx.doi.org/10.5507/bp.2017.058DOI Listing
June 2018
13 Reads

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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http://dx.doi.org/10.1111/1751-2980.12552DOI Listing
November 2017
27 Reads

[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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http://dx.doi.org/10.11604/pamj.2017.27.116.9187DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5554695PMC
September 2017
59 Reads

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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http://dx.doi.org/10.1007/s10151-017-1647-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5550543PMC
July 2017
8 Reads

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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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0170034PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5242456PMC
August 2017
14 Reads

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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http://dx.doi.org/10.1080/03007995.2016.1226168DOI Listing
December 2016
21 Reads

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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http://dx.doi.org/10.1007/s10620-016-4172-8DOI Listing
September 2016
47 Reads

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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http://dx.doi.org/10.5021/ad.2016.28.2.232DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4828388PMC
April 2016
39 Reads

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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http://dx.doi.org/10.5604/17322693.1192187DOI Listing
January 2016
9 Reads

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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http://dx.doi.org/10.1136/rmdopen-2015-000097DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4612691PMC
October 2015
46 Reads

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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June 2015
9 Reads

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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http://www.wjgnet.com/1007-9327/full/v21/i25/7786.htm
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http://dx.doi.org/10.3748/wjg.v21.i25.7786DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4491965PMC
July 2015
39 Reads

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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http://dx.doi.org/10.1016/j.ejphar.2015.06.033DOI Listing
September 2015
11 Reads

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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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4469939PMC
http://dx.doi.org/10.17305/bjbms.2015.348DOI Listing
May 2015
29 Reads

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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http://dx.doi.org/10.5152/tjg.2014.3870DOI Listing
December 2014
13 Reads

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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http://dx.doi.org/10.4161/21688370.2014.977176DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4372021PMC
April 2015
14 Reads

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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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4313978PMC
October 2015
27 Reads

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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http://dx.doi.org/10.14712/18059694.2014.46DOI Listing
June 2015
12 Reads

Mechanisms that mediate the development of fibrosis in patients with Crohn's disease.

Inflamm Bowel Dis 2014 Jul;20(7):1250-8

*Department of Medicine, †Department of Physiology and Biophysics, and ‡VCU Program for Enteric Neuromuscular Sciences, Medical College of Virginia Campus, Virginia Commonwealth University, Richmond, Virginia.

Crohn's disease is complicated by the development of fibrosis and stricture in approximately 30% to 50% of patients over time. The pathogenesis of fibrostenotic disease is multifactorial involving the activation of mesenchymal cells by cytokines, growth factors, and other mediators released by immune cells, epithelial cells, and mesenchymal cells. Transforming growth factor β, a key activator of mesenchymal cells, is central to the process of fibrosis and regulates numerous genes involved in the disordered wound healing including collagens, and other extracellular matrix proteins, connective tissue growth factor, and insulin-like growth factors. Read More

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http://dx.doi.org/10.1097/MIB.0000000000000043DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4057349PMC
July 2014
13 Reads

Prediction of Crohn's disease aggression through NOD2/CARD15 gene sequencing in an Australian cohort.

World J Gastroenterol 2014 May;20(17):5008-16

Maneesha Bhullar, Finlay Macrae, Gregor Brown, Department of Colorectal Medicine and Genetics, 3 Centre, The Royal Melbourne Hospital, Parkville 3052, Australia.

Aim: To investigate the association between mutations in oligomerisation domain 2/caspase recruitment domains 15 (NOD2/CARD15) and the natural history of Crohn's disease (CD) to identify patients who would benefit from early aggressive medical intervention.

Methods: We recruited thirty consecutive unrelated CD patients with a history of ileo-caecal or small bowel resection during the period 1980-2000; Fifteen patients of these had post-operative relapse that required further surgery and fifteen did not. Full sequencing of the NOD2/CARD15 gene using dHPLC for exons 3, 5, 7, 10 and 12 and direct sequencing for exons 2, 4, 6, 8, 9 and 11 was conducted. Read More

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http://dx.doi.org/10.3748/wjg.v20.i17.5008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4009534PMC
May 2014
10 Reads

Association between NOD2/CARD15 gene polymorphisms and Crohn's disease in Chinese Zhuang patients.

World J Gastroenterol 2014 Apr;20(16):4737-44

Wei-Yan Long, Lan Chen, Cui-Liang Zhang, Rong-Mao Nong, Mei-Jiao Lin, Xiao-Ping Lv, Department of Gastroenterology, the First Affiliated Hospital of Guangxi Medical University, Nanning 530021, Guangxi Zhuang Autonomous Region, China.

Aim: To assess the relationship between the P268S, JW1 and N852S polymorphisms and Crohn's disease (CD) susceptibility in Zhuang patients in Guangxi, China.

Methods: Intestinal tissues from 102 Zhuang [48 CD and 54 ulcerative colitis (UC)] and 100 Han (50 CD and 50 UC) unrelated patients with inflammatory bowel disease and 72 Zhuang and 78 Han unrelated healthy individuals were collected in the Guangxi Zhuang Autonomous Region from January 2009 to March 2013. Genomic DNA was extracted using the phenol chloroform method. Read More

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http://dx.doi.org/10.3748/wjg.v20.i16.4737DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4000511PMC
April 2014
16 Reads

3020insC NOD2/CARD15 polymorphism associated with treatment of colorectal cancer.

Med Oncol 2014 May 10;31(5):954. Epub 2014 Apr 10.

Laboratory of Human Genetics Immunology and Pathology, Faculty of Sciences Tunis El Manar, University of Tunis EL Manar, 2092, Tunis, Tunisia,

Chronic inflammation is closely linked to cancer. The risk of damage by colorectal cancer (CRC) may increase due to autoimmune disease and cryptogenic inflammation. Therefore, genetic factors implicated in the chronic irritation in inflammatory bowel disease such as NOD2/CARD15 may predispose to CRC. Read More

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http://link.springer.com/content/pdf/10.1007/s12032-014-0954
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http://link.springer.com/10.1007/s12032-014-0954-z
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http://dx.doi.org/10.1007/s12032-014-0954-zDOI Listing
May 2014
43 Reads
3 Citations
2.060 Impact Factor

NOD2/CARD15 variants in Malaysian patients with sporadic colorectal cancer.

Genet Mol Res 2014 Mar 19;13(3):7079-85. Epub 2014 Mar 19.

Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia

Colorectal cancer (CRC) is one of the most common types of cancer in both developed and developing countries. This disease is triggered by and progresses via the sequential accumulation of multiple genetic alterations. In addition, the interaction between low-penetrance genes and environmental factors can also increase the risk of developing CRC. Read More

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http://dx.doi.org/10.4238/2014.March.19.3DOI Listing
March 2014
11 Reads

NOD2/CARD15 and IL23R genetic variability in 204 Algerian Crohn's disease.

Clin Res Hepatol Gastroenterol 2014 Sep 25;38(4):499-504. Epub 2014 Mar 25.

Immunology and Histocompatibility Department, CIB-HOB, AP-HP, IUH and INSERM UMRS940, Saint-Louis Hospital, Paris, France.

NOD2/CARD15 and IL23R gene variants play an important role in the susceptibility to Crohn's disease (CD). Studies of genotype-phenotype relationship suggest that these variants are associated with the development of the disease and specific phenotype. Preliminary reports analyzing the association between these variants have never been made on Algerian CD's. Read More

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http://dx.doi.org/10.1016/j.clinre.2014.02.003DOI Listing
September 2014
19 Reads
6 Citations
1.983 Impact Factor

NOD2 downregulates colonic inflammation by IRF4-mediated inhibition of K63-linked polyubiquitination of RICK and TRAF6.

Mucosal Immunol 2014 Nov 26;7(6):1312-25. Epub 2014 Mar 26.

Mucosal Immunity Section, Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.

It is well established that polymorphisms of the caspase activation and recruitment domain 15 (CARD15) gene, a major risk factor in Crohn's disease (CD), lead to loss of nucleotide-binding oligomerization domain 2 (NOD2) function. However, a molecular explanation of how such loss of function leads to increased susceptibility to CD has remained unclear. In a previous study exploring this question, we reported that activation of NOD2 in human dendritic cells by its ligand, muramyl dipeptide (MDP), negatively regulates Toll-like receptor (TLR)-mediated inflammatory responses. Read More

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http://dx.doi.org/10.1038/mi.2014.19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4177019PMC
November 2014
10 Reads

Autophagy genes variants and paediatric Crohn's disease phenotype: a single-centre experience.

Dig Liver Dis 2014 Jun 19;46(6):512-7. Epub 2014 Mar 19.

Department of Translational Medical Sciences, Section of Pediatrics, University of Naples "Federico II", Italy.

Background And Aims: Little evidence demonstrating the correlation between several single nucleotide polymorphisms and a specific phenotype of Crohn's disease has been reported in children. We investigated the relationship between autophagy genes variants and clinical features in our children with Crohn's disease.

Methods: Genotyping for ATG16L1, NOD2/CARD15, and IRGM1 was performed in 80 consecutive patients with Crohn's disease (median age: 11 years; range: 0. Read More

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http://dx.doi.org/10.1016/j.dld.2014.02.016DOI Listing
June 2014
23 Reads

Detection of Mycobacterium avium subspecies paratuberculosis in patients with Crohn's disease is unrelated to the presence of single nucleotide polymorphisms rs2241880 (ATG16L1) and rs10045431 (IL12B).

Med Microbiol Immunol 2014 Jun 13;203(3):195-205. Epub 2014 Feb 13.

Department of Microbiology, University College Cork, Cork, Ireland.

Mycobacterium avium subspecies paratuberculosis (MAP) has been controversially linked with Crohn's disease (CD). Detection of MAP in CD has been highly variable, and one explanation might be the genetic heterogeneity of this syndrome. Many of the single nucleotide polymorphisms (SNPs) linked with CD are contained within genes that are associated with bacterial handling in general, and some are specifically implicated in susceptibility to mycobacterial disease. Read More

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http://dx.doi.org/10.1007/s00430-014-0332-7DOI Listing
June 2014
26 Reads

NOD2/CARD15 single nucleotide polymorphism 13 (3020insC) is associated with risk of sepsis and single nucleotide polymorphism 8 (2104C>T) with herpes viruses reactivation in patients after allogeneic hematopoietic stem cell transplantation.

Biol Blood Marrow Transplant 2014 Mar 15;20(3):409-14. Epub 2013 Dec 15.

Lower Silesian Center for Cellular Transplantation with National Bone Marrow Donor Registry, Wroclaw, Poland.

Three NOD2 polymorphisms (single nucleotide polymorphism [SNP]8 [2104C>T, Arg702Trp], SNP12 [2722G>C, Gly908Arg], and SNP13 [3020insC, Leu1007 fsins C]), identified as disease-associated variants in Crohn's disease, have recently been suggested as gene markers of the outcome of hematopoietic stem cell transplantation (HSCT). In the present multicenter study of 464 donor-recipient pairs, we focused on the effect of NOD2 mutation(s) on the risk of infections and acute graft-versus-host disease (aGVHD). The presence of SNP13 in recipients, donors, or both was more frequently seen in patients having sepsis than in those lacking sepsis (9 of 48 versus 33 of 386, P = . Read More

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http://dx.doi.org/10.1016/j.bbmt.2013.12.558DOI Listing
March 2014
64 Reads
8 Citations
3.404 Impact Factor

[Possibilities of genetic diagnostics of intestine tumour and inflammatory diseases in Slovakia].

Vnitr Lek 2013 Nov;59(11):977-80

In recent years, gastroenterologists focused their interest on finding the genetic background of inflammatory bowel disease and colon cancer. NOD2/ CARD15 gene is still the most investigated gene of all known genes and its mutations can explain approximately 20% of genetic predisposition to Crohns disease. From later identified genes that play an important role in the etiology of Crohns disease, the IL23R and ATG16L1 genes have a perspective place. Read More

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November 2013
6 Reads

Functions of NOD-Like Receptors in Human Diseases.

Front Immunol 2013 Oct 16;4:333. Epub 2013 Oct 16.

Department of Microbiology and Immunology, McGill University , Montreal, QC , Canada.

Nucleotide-binding and oligomerization domain NOD-like receptors (NLRs) are highly conserved cytosolic pattern recognition receptors that perform critical functions in surveying the intracellular environment for the presence of infection, noxious substances, and metabolic perturbations. Sensing of these danger signals by NLRs leads to their oligomerization into large macromolecular scaffolds and the rapid deployment of effector signaling cascades to restore homeostasis. While some NLRs operate by recruiting and activating inflammatory caspases into inflammasomes, others trigger inflammation via alternative routes including the nuclear factor-κB, mitogen-activated protein kinase, and regulatory factor pathways. Read More

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http://dx.doi.org/10.3389/fimmu.2013.00333DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3797414PMC
October 2013
6 Reads

Role of Salmonella enterica exposure in Chilean Crohn's disease patients.

World J Gastroenterol 2013 Sep;19(35):5855-62

Manuel Alvarez-Lobos, Patricio Ibañez, Carlos Quintana, CAREI Group (Active Cohort Registry of Inflammatory Bowel Disease), Department of Gastroenterology, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago 6510260, Chile.

Aim: To study the association between exposure to Salmonella enterica (SE) and Crohn's disease (CD) and its clinical implications in Chilean patients.

Methods: Ninety-four unrelated Chilean CD patients from CAREI (Active Cohort Registry of Inflammatory Bowel Disease) presenting to a single inflammatory bowel disease (IBD) unit of a University Hospital were prospectively included in this study. A complete clinical evaluation, including smoking history, was performed at the initial visit, and all the important data of clinical evolution of CD were obtained. Read More

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http://dx.doi.org/10.3748/wjg.v19.i35.5855DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3793139PMC
September 2013
15 Reads

Card15 mutations and gastric cancer in a Portuguese population.

Scand J Gastroenterol 2013 Oct;48(10):1188-97

Department of Gastroenterology, Centro Hospitalar e Universitário de Coimbra , Coimbra , Portugal.

BACKGROUND. CARD15 is involved in the innate immune response and mutations of this gene have been linked with increased risk of Crohn's disease and colorectal cancer. The relation between CARD15 mutations and gastric cancer (GC) remains controversial. Read More

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http://dx.doi.org/10.3109/00365521.2013.832370DOI Listing
October 2013
3 Reads

Genetic variants associated with Crohn's disease.

Appl Clin Genet 2013 16;6:25-32. Epub 2013 Jul 16.

The University of Southern California, Children's Hospital of Los Angeles, Los Angeles, CA, USA.

Crohn's disease is an immune-related disorder characterized by inflammation of the gastrointestinal mucosa, which can occur in any area throughout the digestive tract. This life-long disease commonly presents with abdominal pain, diarrhea, vomiting, and weight loss. While the exact etiology of this disease is largely unknown, it is thought to arise from an interaction between microbial, immunological, and environmental factors in a genetically susceptible host, whereby the immune system attacks the intestine as it cross reacts against gut microbial antigens. Read More

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http://dx.doi.org/10.2147/TACG.S33966DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3735034PMC
August 2013
4 Reads

Hypoxia inducible NOD2 interacts with 3-O-sulfogalactoceramide and regulates vesicular homeostasis.

Biochim Biophys Acta 2013 Nov 21;1830(11):5277-86. Epub 2013 Jul 21.

Maastricht Radiation Oncology, MAASTRO/GROW Maastricht University Medical Center+, PO Box 616, 6200 MD Maastricht, The Netherlands.

Background: Oxygen sensing in mammalian cells is a conserved signaling pathway regulated by hypoxia inducible factor type 1 (HIF-1). Inadequate oxygen supply (hypoxia) is common to many pathological disorders where autophagy plays an import role. The aim of this study was the identification and characterization of novel HIF-1 target genes that promote autophagy during hypoxia. Read More

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http://dx.doi.org/10.1016/j.bbagen.2013.07.017DOI Listing
November 2013
8 Reads

miR-122 targets NOD2 to decrease intestinal epithelial cell injury in Crohn's disease.

Biochem Biophys Res Commun 2013 Aug 19;438(1):133-9. Epub 2013 Jul 19.

Department of Pediatrics, Jiangwan Hospital of Shanghai, Shanghai 200434, China.

Crohn's disease (CD) is one of the two major types of inflammatory bowel disease (IBD) thought to be caused by genetic and environmental factors. Recently, miR-122 was found to be deregulated in association with CD progression. However, the underlying molecular mechanisms remain unclear. Read More

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http://dx.doi.org/10.1016/j.bbrc.2013.07.040DOI Listing
August 2013
4 Reads

Detection of muramyl dipeptide-sensing pathway defects in monocytes of patients with Crohn's disease using phospho-specific whole blood flow cytometry.

Scand J Clin Lab Invest 2013 Sep 9;73(6):494-502. Epub 2013 Jul 9.

Department of Bacteriology and Immunology, Haartman Institute, University of Helsinki.

Peripheral blood mononuclear cells of Crohn's disease (CD) patients with the common 1007fs mutation of the caspase recruitment domain-containing 15/nucleotide-binding oligomerization domain-containing 2 (CARD15/NOD2) gene show impaired nuclear factor kappa B (NF-κB) activation in response to muramyl dipeptide (MDP), as determined by Western blotting. We applied phospho-specific flow cytometry to examine NF-κB and p38 activation in whole blood monocytes of 16 CD patients with or without the 1007fs and previously described rare mutations of the CARD15 gene, and healthy reference subjects. Aliquots of whole blood were supplemented with MDP (0-1000 ng/mL), incubated for 10-40 min and processed for flow cytometry. Read More

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http://dx.doi.org/10.3109/00365513.2013.811612DOI Listing
September 2013
11 Reads

NOD2 mutations affect muramyl dipeptide stimulation of human B lymphocytes and interact with other IBD-associated genes.

Dig Dis Sci 2013 Sep 26;58(9):2599-607. Epub 2013 May 26.

Division of Colon and Rectal Surgery, Department of Surgery, Pennsylvania State University College of Medicine, H137, 500 University Drive, Hershey, PA 17033, USA.

Background: Genetic and functional studies have associated variants in the NOD2/CARD15 gene with Crohn's disease.

Aims: This study aims to replicate the association of three common NOD2 mutations with Crohn's disease, study its effect on NOD2 expression in B cells and its interaction with other IBD-associated genes.

Methods: A total of 294 IBD patients (179 familial IBD, 115 sporadic IBD) and 298 unrelated healthy controls were from central Pennsylvania. Read More

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http://dx.doi.org/10.1007/s10620-013-2696-8DOI Listing
September 2013
12 Reads

Pouchitis: what every gastroenterologist needs to know.

Authors:
Bo Shen

Clin Gastroenterol Hepatol 2013 Dec 16;11(12):1538-49. Epub 2013 Apr 16.

Department of Gastroenterology/Hepatology, Digestive Disease Institute, The Cleveland Clinic Foundation, Cleveland, Ohio. Electronic address:

Pouchitis is the most common complication among patients with ulcerative colitis who have undergone restorative proctocolectomy with ileal pouch-anal anastomosis. Pouchitis is actually a spectrum of diseases that vary in etiology, pathogenesis, phenotype, and clinical course. Although initial acute episodes typically respond to antibiotic therapy, patients can become dependent on antibiotics or develop refractory disease. Read More

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http://dx.doi.org/10.1016/j.cgh.2013.03.033DOI Listing
December 2013
2 Reads

Host genotype, intestinal microbiota and inflammatory disorders.

Br J Nutr 2013 Jan;109 Suppl 2:S76-80

Microbial Ecology and Nutrition Research Group, Institute of Agrochemistry and Food Technology, National Research Council (IATA-CSIC), Avenida Agustín Escardino, 7. 46980 Paterna, Valencia, Spain.

Intestinal microbiota may influence human physiology and disease risk due to the role it plays in mediating appropriate immune responses to harmful and innocuous antigens. Colonisation of the intestine in early life seems particularly important as it is the main environmental stimulus for immune system maturation. This is a dynamic process, which depends on both environmental and genetic factors. Read More

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http://dx.doi.org/10.1017/S0007114512005521DOI Listing
January 2013
4 Reads

Nucleotide-binding oligomerization domain containing 2: structure, function, and diseases.

Authors:
Qingping Yao

Semin Arthritis Rheum 2013 Aug 24;43(1):125-30. Epub 2013 Jan 24.

Department of Rheumatic and Immunologic Diseases/A50, Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USA.

Objectives: To systematically review literature about the structure and function of nucleotide-binding oligomerization domain containing 2 (NOD2) and its disease association.

Methods: The English literature was searched using keywords "NOD2" and "disease". Relevant original and review articles were reviewed. Read More

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http://dx.doi.org/10.1016/j.semarthrit.2012.12.005DOI Listing
August 2013
7 Reads

Danger-associated molecular patterns and inflammatory bowel disease: is there a connection?

Dig Dis 2012 3;30 Suppl 3:40-6. Epub 2013 Jan 3.

Institute of Pathology, University of Bern, Bern, Switzerland. christoph.mueller @ pathology.unibe.ch

The innate immune system is of critical importance for maintaining the local tissue homeostasis in the intestinal mucosa. It must recognize and rapidly respond to microbial antigens and danger signals to provide a first line of host defense. This is primarily accomplished through an array of pattern recognition receptors that are located in distinct (sub)cellular compartments and bind pathogen-associated and danger-associated molecular patterns (PAMPs and DAMPs, respectively). Read More

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http://dx.doi.org/10.1159/000342600DOI Listing
June 2013
9 Reads

Crohn's disease genotypes of patients in remission vs relapses after infliximab discontinuation.

World J Gastroenterol 2012 Sep;18(36):5058-64

Division of Gastroenterology, Zeidler Ledcor Center, University of Alberta, Edmonton, AB T6G 2X8, Canada.

Aim: To investigate genetic differences between Crohn's disease (CD) patients with a sustained remission vs relapsers after discontinuing infliximab while in corticosteroid-free remission.

Methods: Forty-eight CD patients received infliximab and were in full corticosteroid-free clinical remission but then discontinued infliximab for reasons other than a loss of response, were identified by review of an electronic database and charts. Infliximab-associated remission was defined as corticosteroid-free plus normalization of clinical disease activity [CD activity index (CDAI) < 150] during follow-up visits based on physician global assessments. Read More

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http://dx.doi.org/10.3748/wjg.v18.i36.5058DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3460332PMC
September 2012
7 Reads