Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: rs4986790
rs4986790
0.800 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 TLR4 variant D299G showed significant association, with UC (P=0.009) and CD (P=0.039). 23470644

2013

dbSNP: rs4986790
rs4986790
0.800 GeneticVariation BEFREE Overall, no heterozygous or homozygous single nucleotide polymorphism mutations were found in patients with Crohn's disease and ulcerative colitis both in the TLR4 gene Asp299Gly, Thr399Ile and the TLR2 gene Arg677Trp, Arg753Gln in the Zhuang population from the Guangxi Zhuang Autonomous Region of China. 23239925

2012

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: 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: rs4986790
rs4986790
0.800 GeneticVariation BEFREE In this two-center, retrospective German and Hungarian cohort study, patients with Crohn's disease (CD) (n = 379; German n = 235, Hungarian n = 144) and ulcerative colitis (UC) (n = 263; German n = 145, Hungarian n = 118) and healthy controls (n = 605; German n = 403, Hungarian n = 202) were genotyped for the presence of the CD14 c.1-260C>T promoter variant and the TLR4 c.896A>G (p.D299G) variant by melting curve analysis using fluorescence resonance energy transfer probes. 18174680

2007

dbSNP: rs4986790
rs4986790
0.800 GeneticVariation BEFREE The TLR4 Asp299Gly and Thr399Ile polymorphisms were genotyped and tested for case-control frequency differences in a New Zealand white cohort of 389 Crohn's disease (CD) patients, 405 ulcerative colitis (UC) patients, and 416 population controls. 17850411

2007

dbSNP: rs4986790
rs4986790
0.800 GeneticVariation BEFREE In further exploring the genetic background of these diseases, we investigated the variations in the CARD15/NOD2 gene (Arg702Trp, Gly908Arg and Leu1007fsinsC), and polymorphisms in the TLR4 gene (Asp299Gly and Thr399Ile) as well as in the promoter of the CD14 gene (T/C at position -159) in Greek patients with CD and UC. 15655821

2005

dbSNP: rs4986790
rs4986790
0.800 GeneticVariation BEFREE Using a polymerase chain reaction based restriction fragment length polymorphism, the study genotyped polymorphisms TLR4 Asp299Gly and CD14 C-260T in 114 patients with UC and 160 healthy controls in the Chinese Han population. 16085746

2005

dbSNP: rs4986790
rs4986790
0.800 GeneticVariation BEFREE We have reported on a novel association of the TLR4 Asp299Gly polymorphism with both CD and UC. 15194649

2004