ArticlePloS one2014
Polymorphisms in the inflammatory pathway genes TLR2, TLR4, TLR9, LY96, NFKBIA, NFKB1, TNFA, TNFRSF1A, IL6R, IL10, IL23R, PTPN22, and PPARG are associated with susceptibility of inflammatory bowel disease in a Danish cohort.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers, 1 of them a synthesis that pooled it.
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Who cites it
72 citing papers in PubMed, 1 synthesis or guideline pooled it, 125 citations in OpenAlex.
- The Association between Genetics and Response to Treatment with Biologics in Patients with Psoriasis, Psoriatic Arthritis, Rheumatoid Arthritis, and Inflammatory Bowel Diseases: A Systematic Review and Meta-Analysis.International journal of molecular sciences · 2024Pooled it
- Genetic polymorphisms in PXR and NF-κB1 influence susceptibility to anti-tuberculosis drug-induced liver injury.PloS one · 2019Trial
- Bacterial lipid structural diversity mediates commensalism and pathogenesis.Nature reviews. Microbiology · 2026Review
- Towards Precision Medicine in Inflammatory Bowel Diseases: Pharmacogenetic Predictors of Ustekinumab Effectiveness and Persistence.Pharmaceuticals (Basel, Switzerland) · 2026Article
- Article
- Cohort profile: Copenhagen Hospital Biobank-chronic inflammatory disease-inflammatory bowel disease (CHB-CID:IBD) genetic cohort.European journal of epidemiology · 2025Article
- Identification of subtypes and biomarkers associated with disulfidptosis-related ferroptosis in ulcerative colitis.Hereditas · 2025Article
- Pharmacogenomic Study of SARS-CoV-2 Treatments: Identifying Polymorphisms Associated with Treatment Response in COVID-19 Patients.Biomedicines · 2025Article
- Multi-omics data integration identifies novel biomarkers and patient subgroups in inflammatory bowel disease.Journal of Crohn's & colitis · 2025Article
- The role ofFrontiers in immunology · 2025Article
- A Multitrait Analysis of Genome-Wide Association Study Reveals the Shared Genetic Architecture Between Inflammatory Bowel Disease and Ankylosing Spondylitis.Mediators of inflammation · 2025Article
- Nutritional psychology and inflammatory bowel disease: a narrative review of gut-brain axis interactions.Frontiers in nutrition · 2025Review
- The Association of Polymorphisms in Interleukin-6 (IL-6), Interleukin-10 (IL-10), IL-6 Receptor, and IL-10 Receptor Genes with the Risk of Pediatric Inflammatory Bowel Disease.Journal of inflammation research · 2025Article
- Thyroid disorders and inflammatory bowel disease: an association present in adults but also in children and adolescents.Frontiers in endocrinology · 2025Review
- The Versatile Role of Peroxisome Proliferator-Activated Receptors in Immune-Mediated Intestinal Diseases.Cells · 2024Review
- Genetic variations of IL10 and IL6R genes in acute anterior uveitis in Han Chinese.BMC ophthalmology · 2024Article
- The infant gut virome is associated with preschool asthma risk independently of bacteria.Nature medicine · 2024Article
- Characterization and optimization of variability in a human colonic epithelium culture model.ALTEX · 2024Article
- Serum TGF-Journal of immunology research · 2023Article
- Network pharmacology and molecular docking reveal the immunomodulatory mechanism of rhubarb peony decoction for the treatment of ulcerative colitis and irritable bowel syndrome.Journal of pharmacy & pharmaceutical sciences : a publication of the Canadian Society for Pharmaceutical Sciences, Societe canadienne des sciences pharmaceutiques · 2023Article
12 more citing papers are in PubMed but not listed here.
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Authors and funding
20 authors at 13 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe inflammatory bowel diseases (IBD), Crohn's disease (CD) and ulcerative colitis (UC), result from the combined effects of susceptibility genes and environmental factors. Polymorphisms in genes regulating inflammation may explain part of the genetic heritage.
methodsUsing a candidate gene approach, 39 mainly functional single nucleotide polymorphisms (SNPs) in 26 genes regulating inflammation were assessed in a clinical homogeneous group of severely diseased patients consisting of 624 patients with CD, 411 patients with UC and 795 controls. The results were analysed using logistic regression.
resultsSixteen polymorphisms in 13 genes involved in regulation of inflammation were associated with risk of CD and/or UC (p ≤ 0.05). The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. When including all patients (IBD) the polymorphisms TLR2 (rs4696480 and rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs187084), TNFRSF1A (rs4149570), IL6R (rs4537545), IL10 (rs3024505), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk. After Bonferroni correction for multiple testing, both the homozygous and the heterozygous variant genotypes of IL23R G>A(rs11209026) (OR(CD,adj): 0.38, 95% CI: 0.21-0.67, p = 0.03; OR(IBD,adj) 0.43, 95% CI: 0.28-0.67, p = 0.007) and PTPN22 1858 G>A(rs2476601) (OR(CD,unadj) 0.54, 95% CI: 0.41-0.72, p = 7*10-4; OR(IBD,unadj): 0.61, 95% CI: 0.48-0.77, p = 0.001) were associated with reduced risk of CD.
conclusionThe biological effects of the studied polymorphisms suggest that genetically determined high inflammatory response was associated with increased risk of CD. The many SNPs found in TLRs suggest that the host microbial composition or environmental factors in the gut are involved in risk of IBD in genetically susceptible individuals.
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