AI Article Synopsis
- The study investigated the relationship between NOD2 and TLR4 gene variants and inflammatory bowel disease (IBD) in Tunisian patients, revealing mixed results compared to other research.
- Key findings showed that the TLR4-Thr399Ile variant is linked to an increased risk of IBD, particularly Crohn's disease, while TLR4-Asp299Gly was more common in healthy controls and associated with arthritis in ulcerative colitis patients.
- In contrast, common NOD2 gene variations showed no significant polymorphism or association with IBD in this population, suggesting unique genetic traits among the Tunisian group.
Article Abstract
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. Genotypes and phenotypes were correlated.
Results: The mutated allele of TLR4-Thr399Ile was strongly associated with IBD (9.4% in IBD, 7.4% in UC and 13.2% in CD vs 2.5% in controls; P = 0.0004, 0.014 and 0.00006, respectively). Heterozygous genotypes were significantly more frequent in patients with IBD (17.0%), UC (14.7%) and CD (21.1%) than in controls (5.0%) (P = 0.0012, 0.012 and 0.001, respectively). Interestingly, the wild genotype was found to be protective (odds ratio 0.24). The mutated allele of TLR4-Asp299Gly was more frequent in controls (6.8%) than in patients with IBD (2.9%). A phenotypic correlation of Asp299Gly-AG genotype with arthritis in UC patients was detected (P = 0.003). Regarding the NOD2 gene, the common variations studied were not polymorphic and there was no genetic association with IBD.
Conclusion: The TLR4-Thr399Ile variant was strongly associated with susceptibility to IBD, whereas TLR4-Asp299Gly seems to play a role in the clinical expression of UC. The rarity and non-association of NOD2 mutations with IBD may reveal a genetic characteristic of the population in our region.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/1751-2980.12552 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Risk of comorbidity of autoimmune liver disease in patients with inflammatory bowel disease: A single-center case-control study in China.
J Dig Dis
December 2024
Department of Gastroenterology, Peking Union Medical College Hospital, Beijing, China.
Objective: To investigate the prevalence of autoimmune hepatitis (AIH), primary biliary cholangitis (PBC), and primary sclerosing cholangitis (PSC), and the impact of comorbidity of AIH, PBC, and PSC on hospitalization burden in patients with inflammatory bowel disease (IBD).
Methods: Inpatients admitted to Peking Union Medical College Hospital from January 1, 1998 to December 31, 2021 were included. Odds ratio (OR) and the corresponding 95% confidence interval (CI) were calculated to compare the risk of AIH, PBC, and PSC between IBD and non-IBD patients.
The necessity of validity diagnostics when drawing causal inferences from observational data: lessons from a multi-database evaluation of the risk of non-infectious uveitis among patients exposed to Remicade.
BMC Med Res Methodol
December 2024
Janssen Research & Development LLC, Global Epidemiology Organization, Raritan, NJ, USA.
Background: Autoimmune disorders have primary manifestations such as joint pain and bowel inflammation but can also have secondary manifestations such as non-infectious uveitis (NIU). A regulatory health authority raised concerns after receiving spontaneous reports for NIU following exposure to Remicade, a biologic therapy with multiple indications for which alternative therapies are available. In assessment of this clinical question, we applied validity diagnostics to support observational data causal inferences.
View Article and Find Full Text PDFImpact of SCN10A Polymorphism on Abdominal Pain Perception and Visceral Hypoalgesia in Crohn's Disease and Ulcerative Colitis.
Clin Transl Gastroenterol
December 2024
Department of Pharmacology, Penn State College of Medicine, Hershey, Pennsylvania, USA.
Introduction: Hypoalgesic inflammatory bowel disease (IBD) may provide critical insights into human abdominal pain. This condition was previously associated with homozygosity for a polymorphism (rs6795970, A1073V; 1073 val/val ) related to Na v 1.8, a voltage-gated sodium channel preferentially expressed on nociceptors.
View Article and Find Full Text PDFASYMPTOMATIC INFLAMMATORY BOWEL DISEASE DIAGNOSED DURING COLORECTAL CANCER POPULATION SCREENING IN CATALONIA: CHARACTERISTICS AND NATURAL HISTORY.
Clin Transl Gastroenterol
December 2024
Gastroenterlogy Department. Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA). Sabadell, Catalunya, Departament de Medicina, Universitat Autònoma de Barcelona.
Introduction: Inflammatory bowel disease (IBD) is usually diagnosed when symptomatic. Prognosis and evolution of preclinical IBD is largely unknown. However, colorectal cancer screening programs (CRCSP) detect a subset of IBD patients with no symptoms.
View Article and Find Full Text PDFProof of Concept Study: Comparison of Semi-Automated RNA Isolation Methods from Archived Formalin-Fixed, Paraffin-Embedded Tissues with Clinical Routine RNA Isolation Methods.
Methods Protoc
December 2024
Department of Pathology, Herlev University Hospital, 2730 Herlev, Denmark.
High-quality RNA is crucial in clinical diagnostics and precision medicine. Formalin-fixed and paraffin-embedded (FFPE) tissues pose a challenge due to nucleic acid fragmentation and crosslinking. In this pilot study, various commercially available techniques for extracting RNA from small FFPE samples were compared.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!