Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2043211
rs2043211
0.010 GeneticVariation BEFREE We examined <i>PTPN22</i> rs2476601 (p.Arg620Trp), <i>NLRP3</i> rs35829419 (p.Gln705Lys), and <i>CARD8</i> rs2043211 (p.Cys10Ter) in 66 subjects with coexisting T1D and CD, 65 subjects with T1D who did not develop CD, 67 subjects diagnosed only with CD and 127 healthy unrelated Slovenian individuals. 30915320

2019

dbSNP: rs1161457931
rs1161457931
0.010 GeneticVariation BEFREE C282Y allele frequency was significantly increased in CD compared with controls (1.1% vs 0.2%, P = .001), whereas H63D and A736V allele frequencies were similar among patients and controls (P = .92 and .84, respectively). 29194702

2018

dbSNP: rs1208663703
rs1208663703
0.010 GeneticVariation BEFREE C282Y allele frequency was significantly increased in CD compared with controls (1.1% vs 0.2%, P = .001), whereas H63D and A736V allele frequencies were similar among patients and controls (P = .92 and .84, respectively). 29194702

2018

dbSNP: rs738409
rs738409
0.010 GeneticVariation BEFREE PNPLA3 rs738409 Polymorphism Predicts Development and Severity of Hepatic Steatosis but Not Metabolic Syndrome in Celiac Disease. 30189691

2018

dbSNP: rs855791
rs855791
0.010 GeneticVariation BEFREE C282Y allele frequency was significantly increased in CD compared with controls (1.1% vs 0.2%, P = .001), whereas H63D and A736V allele frequencies were similar among patients and controls (P = .92 and .84, respectively). 29194702

2018

dbSNP: rs11100722
rs11100722
0.010 GeneticVariation BEFREE Here we analyze IL-15 and IL-15Rα genes in samples from the Spanish Consortium for Genetics of Celiac Disease (CEGEC) collection, identifying two regulatory single-nucleotide polymorphisms (SNP) that might be associated with celiac disease: rs4956400 (p-value 0.0112, OR 1.21, 95% CI 1.04-1.40) and rs11100722 (p-value 0.0087, OR 1.24, 95% CI 1.06-1.45), both located upstream the IL15 gene. 28738233

2017

dbSNP: rs1800796
rs1800796
0.010 GeneticVariation BEFREE This study aimed to investigate polymorphisms in the genes responsible for encoding cytokines interleukin-6 (IL-6) (-572G/C) (rs1800796) and IL-17 (-197A/G) (rs2275913) in patients with celiac disease (CD). 28928101

2017

dbSNP: rs2275913
rs2275913
0.010 GeneticVariation BEFREE This study aimed to investigate polymorphisms in the genes responsible for encoding cytokines interleukin-6 (IL-6) (-572G/C) (rs1800796) and IL-17 (-197A/G) (rs2275913) in patients with celiac disease (CD). 28928101

2017

dbSNP: rs4956400
rs4956400
0.010 GeneticVariation BEFREE Here we analyze IL-15 and IL-15Rα genes in samples from the Spanish Consortium for Genetics of Celiac Disease (CEGEC) collection, identifying two regulatory single-nucleotide polymorphisms (SNP) that might be associated with celiac disease: rs4956400 (p-value 0.0112, OR 1.21, 95% CI 1.04-1.40) and rs11100722 (p-value 0.0087, OR 1.24, 95% CI 1.06-1.45), both located upstream the IL15 gene. 28738233

2017

dbSNP: rs10754558
rs10754558
0.010 GeneticVariation BEFREE Further, stratification by disease type showed a significant association of the NLRP3 rs10754558 C allele with SLE (OR = 1.465 95% CI = 1.144-1.875, p = 0.002) but not with gout and celiac disease. 27060062

2016

dbSNP: rs1800693
rs1800693
0.010 GeneticVariation BEFREE One TNFRSF1A variant was identified (c.625+10A>G, rs1800693), but not associated with CD. 25915602

2015

dbSNP: rs187238
rs187238
0.010 GeneticVariation BEFREE Given the IL-18 biological role, and since a few studies have previously suggested its involvement in CD, in order to investigate the role of IL18 gene in the susceptibility to CD we have performed a case-control study, analyzing two IL18 gene promoter polymorphisms, previously reported to impair the transcriptional activity of the gene, (-137G > C and -607C > A, rs187238 and rs1946518 respectively). 25374428

2015

dbSNP: rs1946518
rs1946518
0.010 GeneticVariation BEFREE Given the IL-18 biological role, and since a few studies have previously suggested its involvement in CD, in order to investigate the role of IL18 gene in the susceptibility to CD we have performed a case-control study, analyzing two IL18 gene promoter polymorphisms, previously reported to impair the transcriptional activity of the gene, (-137G > C and -607C > A, rs187238 and rs1946518 respectively). 25374428

2015

dbSNP: rs9939609
rs9939609
FTO
0.010 GeneticVariation BEFREE FTO Polymorphism rs9939609 Contributes to Weight Changes in Children With Celiac Disease on Gluten-Free Diet. 26222659

2015

dbSNP: rs10484718
rs10484718
0.010 GeneticVariation BEFREE The aim of this work was to evaluate the expression levels of these two genes in duodenal mucosa of active and treated CD patients and in controls, and to determine whether SNPs (rs802734, rs55743914, rs72975916, rs10484718 and rs9491896) associated with CD have any influence on gene expression. 23820479

2014

dbSNP: rs10491434
rs10491434
0.010 GeneticVariation BEFREE These four variants are implicated in complex phenotypes such as ulcerative colitis and AIDS progression disease (rs10491434), Celiac disease (rs2762051), Crohn's disease, IgA nephropathy and early-onset inflammatory bowel disease (rs713875) and height (rs6569648). 24911414

2014

dbSNP: rs4686484
rs4686484
LPP
0.010 GeneticVariation BEFREE We later found significantly low levels of LPP mRNA in CeD biopsies compared with controls, thus our results suggest that rs4686484 is the functional variant in this locus, while LPP expression is decreased in CeD. 24334606

2014

dbSNP: rs72975916
rs72975916
0.010 GeneticVariation BEFREE The aim of this work was to evaluate the expression levels of these two genes in duodenal mucosa of active and treated CD patients and in controls, and to determine whether SNPs (rs802734, rs55743914, rs72975916, rs10484718 and rs9491896) associated with CD have any influence on gene expression. 23820479

2014

dbSNP: rs9491896
rs9491896
0.010 GeneticVariation BEFREE The aim of this work was to evaluate the expression levels of these two genes in duodenal mucosa of active and treated CD patients and in controls, and to determine whether SNPs (rs802734, rs55743914, rs72975916, rs10484718 and rs9491896) associated with CD have any influence on gene expression. 23820479

2014

dbSNP: rs10930046
rs10930046
0.010 GeneticVariation BEFREE In our study we analyzed IFIH1 rs6432714 and rs10930046 SNPs in T1D patients stratified for the presence of celiac disease and autoimmune thyroid disease. 23246693

2013

dbSNP: rs6432714
rs6432714
0.010 GeneticVariation BEFREE In our study we analyzed IFIH1 rs6432714 and rs10930046 SNPs in T1D patients stratified for the presence of celiac disease and autoimmune thyroid disease. 23246693

2013

dbSNP: rs11552708
rs11552708
0.010 GeneticVariation BEFREE A regulatory SNP in TNFSF13 (rs11552708) is associated with CD (p = 0.01, OR = 0.7). 22136669

2012

dbSNP: rs1801198
rs1801198
0.010 GeneticVariation BEFREE A set of 10 gene polymorphisms (MTHFR rs1801133, MTR rs1805087, MTHFD1 rs2236225, MTRR rs1801394, CBS 844ins68, BHMT1 rs7356530 and rs3733890, BHMT2 rs526264 and rs625879, and TCN2 rs1801198) was tested in 134 patients with CD and 160 matched healthy controls. 21688148

2012

dbSNP: rs601338
rs601338
0.010 GeneticVariation BEFREE Association study of FUT2 (rs601338) with celiac disease and inflammatory bowel disease in the Finnish population. 23075394

2012

dbSNP: rs1248696
rs1248696
0.010 GeneticVariation BEFREE Our study does not support the effect of the R30Q DLG5 variant in CeD or IBD predisposition in the Spanish population. 20796250

2011