Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4986790
rs4986790
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
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
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
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
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
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
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
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
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.800 GeneticVariation BEFREE In a geographic area in Southern Italy with high incidence of CD we investigated IP (lactulose/mannitol testing) together with the three main mutations of the NOD2/CARD15 and the D299G polymorphism of the toll-like receptor (TLR)-4 gene in 23 families of CD patients (patients and first-degree relatives). 16393227

2005

dbSNP: rs4986790
rs4986790
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.760 GeneticVariation BEFREE The aim of this study was to investigate the clinical characteristics and frequency of TLR4 polymorphisms (Asp299Gly and Thr 399Ile) in a cohort of Brazilian patients with AS. 27692393

2018

dbSNP: rs4986790
rs4986790
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.760 GeneticVariation BEFREE The minor allele frequency for the Asp299Gly variant (G) was significantly higher in AS cases compared to controls (7.5% vs 2.6%, respectively; OR 3.10, p = 0.037). 17143969

2007

dbSNP: rs4986790
rs4986790
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.760 GeneticVariation BEFREE The present study might suggest that TLR4 D299G/T399I polymorphisms are not associated with RA/AS susceptibility. 22717291

2012

dbSNP: rs4986790
rs4986790
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.760 GeneticVariation BEFREE Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms do not contribute to disease susceptibility in either AS or ReA. 16567359

2006

dbSNP: rs4986790
rs4986790
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.760 GeneticVariation BEFREE No significant difference between the frequencies of the Asp299Gly genotype or the Thr399Ile genotype between patients with AS and healthy HLA-B27 controls was found. 16837493

2006

dbSNP: rs4986790
rs4986790
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.760 GeneticVariation BEFREE There is no evidence for involvement of the CD14 C-260T or TLR4 A896G polymorphisms in susceptibility to AS. 15647432

2005

dbSNP: rs4986790
rs4986790
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.710 GeneticVariation BEFREE Significant association was observed between a missense variant rs4986790 of TLR4 (Asp229Gly) and plaque type psoriasis (p = 2 × 10(-4)) which was also notable in those with psoriatic arthritis (p = 2 × 10(-4)) and early-onset psoriasis (p = 8 × 10(-4)). 26830904

2016

dbSNP: rs4986791
rs4986791
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
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
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
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: rs4986791
rs4986791
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
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: rs4986791
rs4986791
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
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: rs4986791
rs4986791
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.100 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: rs4986791
rs4986791
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
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: rs4986791
rs4986791
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
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: rs4986791
rs4986791
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.100 GeneticVariation BEFREE The role of Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms and CARD15/NOD2 mutations in the susceptibility and phenotype of Crohn's disease. 15973118

2005

dbSNP: rs4986791
rs4986791
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
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: rs4986791
rs4986791
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.100 GeneticVariation BEFREE The Asp299Gly and Thr399Ile variants do not show an association with CD, UC, or IBD as a group, indicating that these polymorphisms are likely not the causal ones. 15905704

2005

dbSNP: rs4986791
rs4986791
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
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: rs4986791
rs4986791
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.100 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: rs4986791
rs4986791
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
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