Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4986791
rs4986791
0.100 GeneticVariation BEFREE Our meta-analysis suggests that TLR4 T399I polymorphism is moderately associated with susceptibility to CD, and more studies are needed to confirm our conclusion. 29421805

2018

dbSNP: rs4986790
rs4986790
0.800 GeneticVariation BEFREE 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. 29055077

2017

dbSNP: rs4986791
rs4986791
0.100 GeneticVariation BEFREE 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. 29055077

2017

dbSNP: rs4986790
rs4986790
0.800 GeneticVariation BEFREE D299G and T399I were related to CD only in patients carrying NOD2 variants (NOD2+/TLR4+ haplotype) (p=0.036; OR=1.924), increasing the risk to develop CD when 1007insC and TLR4 variants were both present (OR=4.886). 27290609

2016

dbSNP: rs4986791
rs4986791
0.100 GeneticVariation BEFREE D299G and T399I were related to CD only in patients carrying NOD2 variants (NOD2+/TLR4+ haplotype) (p=0.036; OR=1.924), increasing the risk to develop CD when 1007insC and TLR4 variants were both present (OR=4.886). 27290609

2016

dbSNP: rs4986790
rs4986790
0.800 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016

dbSNP: rs1191926239
rs1191926239
0.010 GeneticVariation BEFREE Significant associations were found between Crohn's disease (CD) and minor NOD2 variants, as well as TLR4 299Gly, TNF-α G-308A, IL-6 G-174C and IL-1RN VNTR A2 variants, while ulcerative colitis (UC) was associated only with IL-1RN VNTR A2 variants. 26316104

2015

dbSNP: rs754342091
rs754342091
0.010 GeneticVariation BEFREE CD and UC showed highly significant difference in the allelic distribution of TNF-α G-308A, where the A allele was found to be related to CD, and the G allele to UC. 26316104

2015

dbSNP: rs4986790
rs4986790
0.800 GeneticVariation BEFREE The meta-analysis provides evidence that TLR2 Arg753Gln is not associated with CD and UC susceptibility in Asians; TLR4 Asp299Gly is associated with CD and UC susceptibility in Caucasians, but not Asians. 26023918

2015

dbSNP: rs4986791
rs4986791
0.100 GeneticVariation BEFREE Associations between TLR4 Thr399Ile polymorphisms and CD risk were found only in the allele and dominant models. 26023918

2015

dbSNP: rs4986791
rs4986791
0.100 GeneticVariation BEFREE However, meta-analysis demonstrated significantly higher frequencies of both Asp299Gly and Thr399Ile SNPs in IBD and CD and for 399Ileu carriage in UC patients. 25492126

2014

dbSNP: rs12377632
rs12377632
0.010 GeneticVariation BEFREE 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. 24971461

2014

dbSNP: rs1554973
rs1554973
0.010 GeneticVariation BEFREE 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. 24971461

2014

dbSNP: rs4986790
rs4986790
0.800 GeneticVariation BEFREE TLR4 variant D299G showed significant association, with UC (P=0.009) and CD (P=0.039). 23470644

2013

dbSNP: rs4986791
rs4986791
0.100 GeneticVariation BEFREE Two polymorphisms of TLR4 (D299G, T399I) gene were genotyped by PCR-RFLP in 199 UC, 46 Crohn's disease (CD) patients, and 201 healthy controls. 23470644

2013

dbSNP: rs4986790
rs4986790
0.800 GeneticVariation BEFREE Toll-like receptor (TLR) polymorphisms, and especially TLR-4 Asp299Gly and TLR-4 Thr399Ile, have been linked with Crohn's disease (CD) and to a lesser extent with ulcerative colitis (UC), CD behavior, and compromised seroreactivity to microbial antigens. 22918682

2013

dbSNP: rs4986791
rs4986791
0.100 GeneticVariation BEFREE The presence of TLR-4 Asp299Gly and TLR-4 Thr399Ile polymorphisms is related to UC pancolitis, involvement of the colon in CD, and lower ACCA IgA levels. 22918682

2013

dbSNP: rs4986790
rs4986790
0.800 GeneticVariation BEFREE CD susceptibility polymorphisms ATG16L1 rs2241880, ICAM1 rs5498, IL4 rs2070874, IL17F rs763780, IRGM rs13361189, ITLN1 rs2274910, LRRK2 rs11175593, and TLR4 rs4986790 were genotyped in a Portuguese population (511 CD patients, 626 controls) and assessed for association with CD clinical characteristics. 22573572

2013

dbSNP: rs4986790
rs4986790
0.800 GeneticVariation BEFREE The meta-analysis showed that TLR4 D299G and T399I confer a significant risk for developing CD and UC in Caucasians. 20093834

2010

dbSNP: rs4986791
rs4986791
0.100 GeneticVariation BEFREE The meta-analysis showed that TLR4 D299G and T399I confer a significant risk for developing CD and UC in Caucasians. 20093834

2010

dbSNP: rs4986790
rs4986790
0.800 GeneticVariation BEFREE 90 patients with CD and 80 healthy individuals are genotyped for the Asp299Gly and Thr399Ile polymorphisms by restriction fragment length polymorphism analysis. 19664207

2009

dbSNP: rs4986791
rs4986791
0.100 GeneticVariation BEFREE 90 patients with CD and 80 healthy individuals are genotyped for the Asp299Gly and Thr399Ile polymorphisms by restriction fragment length polymorphism analysis. 19664207

2009

dbSNP: rs4986790
rs4986790
0.800 GeneticVariation BEFREE To evaluate the role of genetic factors in the pathogenesis of Crohn's disease (CD) and ulcerative colitis (UC), we investigated the single nucleotide polymorphisms (SNPs) of NOD2/CARD15 (R702W, G908R and L1007finsC), and Toll-like receptor 4 (TLR4) genes (D299G and T399I) in a selected inflammatory bowel disease (IBD) population coming from Southern Italy. 18680223

2008

dbSNP: rs4986791
rs4986791
0.100 GeneticVariation BEFREE To evaluate the role of genetic factors in the pathogenesis of Crohn's disease (CD) and ulcerative colitis (UC), we investigated the single nucleotide polymorphisms (SNPs) of NOD2/CARD15 (R702W, G908R and L1007finsC), and Toll-like receptor 4 (TLR4) genes (D299G and T399I) in a selected inflammatory bowel disease (IBD) population coming from Southern Italy. 18680223

2008

dbSNP: rs4986790
rs4986790
0.800 GeneticVariation BEFREE To examine whether TLR4 Asp299Gly, CD14-260C/T, TNF-1031T/C, TNF-863C/A, TNF-857C/T, TACE-172C/T, and TACE-154C/A polymorphisms are associated with Crohn disease in the Ashkenazi Jewish population, we analyzed families with at least 1 child with Crohn disease for association with these mutations using a family-based association test (transmission disequilibrium test) for analysis. 18493210

2008