Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5743708
rs5743708
0.050 GeneticVariation BEFREE The two functional relevant polymorphisms in TLR2, the GTn microsatellite repeat polymorphism in intron 2 and the Arg753Gln variant do not seem to play a role in the susceptibility to Crohn's disease or ulcerative colitis. 28388655

2017

dbSNP: rs5743708
rs5743708
0.050 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: rs5743708
rs5743708
0.050 GeneticVariation BEFREE Finally, active UC in patients carrying the TLR2-R753Q and MDR1-C3435T polymorphisms was associated with increased nuclear expression of caspase-1 protein and cell death in areas of acute inflammation, compared with active UC patients without these variants. 23636052

2013

dbSNP: rs5743708
rs5743708
0.050 GeneticVariation BEFREE The ulcerative colitis-associated TLR2-R753Q mutant targets Cx43 for increased proteasomal degradation, impairing TLR2-mediated GJIC during intestinal epithelial wounding. 19528242

2009

dbSNP: rs5743708
rs5743708
0.050 GeneticVariation BEFREE The relevance of the observed functional effect of TLR2 in regulating GC is confirmed by the finding that the UC-associated TLR2-R753Q variant is functionally deficient in the ability to induce TFF3 synthesis, thus leading to impaired wound healing. 19303021

2009