rs2043211, CARD8

N. diseases: 29
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.070 GeneticVariation BEFREE Our results showed that rs10754558 NLRP3 and rs2043211 CARD8 polymorphisms are associated with RA development (p value = 0.044, OR = 1.77, statistical power = 0.999) and severity measured by Health Assessment Questionnaire (HAQ) (p value = 0.03), respectively. 29230505 2018
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.070 GeneticVariation BEFREE NLRP3 p.Q705K and CARD8 p.C10X polymorphisms were not associated with the susceptibility to RA, separately or in combined forms. 28185410 2017
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.070 GeneticVariation BEFREE NLRP3-Q705K and CARD8-C10X genotypes were analyzed in relation to CVD by logistic regression, adjusting for traditional risk factors, antirheumatic treatment, and age at the onset of RA. 26178285 2015
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.070 GeneticVariation BEFREE Is the CARD8 rs2043211 polymorphism associated with susceptibility to Crohn's disease? A meta-analysis. 26462578 2015
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.070 GeneticVariation BEFREE Our meta-analysis results indicated significant association between rs2043211 polymorphism and the susceptibility to CD under the dominant model and homozygote contrast in the European population. 25564880 2015
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.070 GeneticVariation BEFREE No statistically significant differences in allele or genotype frequencies for the rs2043211 CARD8 gene variant between patients with RA and controls were seen. 23088220 2013
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.070 GeneticVariation BEFREE The p.C10X mutation significantly associated or displayed a trend toward lower ASCA and ALCA levels (p=0.038 and p=0.08, respectively) only in the subgroup of CD probands. 23506543 2013
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.070 GeneticVariation BEFREE This study suggests that variations in the innate immunity genes CARD8 (p.C10X) and NLRP3 (p.Q705K) have no effect on RA susceptibility either in the Tunisian or in the French population. 22128899 2012
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.070 GeneticVariation BEFREE To understand the genetic association between CARD8/NALP3 and IBD in Koreans, we investigated seven CARD8, four NALP3 and four NOD2 SNPs in 650 Crohn's disease (CD), 660 ulcerative colitis (UC) patients and 688 controls from the Korean population. rs2043211 of CARD8 showed significant association with UC (P = 0.011; odds ratio = 1.50, 95% confidence intervals = 1.12-2.00, P = 0.006 under recessive model). 21248762 2011
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.070 GeneticVariation BEFREE We found that the presence of the minor allele of rs2043211 with the major allele of rs35829419 conferred a protective effect against Crohn's disease (and vice versa), which intensified in the absence of NOD2 mutations (P(1,2/1,1)=0.009, odds ratio (OR)=0.66, 95% confidence interval (CI) (0.48-0.90); P(1,1/1,2)=0.015, OR=0.35, 95% CI (0.15-0.82)). 20182451 2010
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.070 GeneticVariation BEFREE CARD8 p.C10X and NLRP3 p.Q705K genotypes were assessed in >500 controls and patients with early RA from northern Sweden. 19443463 2010
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.070 GeneticVariation BEFREE Our results show that men who have both the C10X and Q705K alleles in CARD8 and NALP3, and who express wild-type alleles of Nod2 are at an increased risk of developing CD (odds ratio, OR: 3.40 range: 1.32-8.76); P = 0.011). 19319132 2009
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.070 GeneticVariation BEFREE Analyzing 3 independent European IBD cohorts, we found no evidence that the C10X variant in CARD8 confers susceptibility for CD. 18092344 2008
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.070 GeneticVariation BEFREE We analyzed the p.C10X polymorphism in 200 patients with RA, and found that homozygous carriers of the CARD8-S allele have higher disease activity score (p = 0.014), more extra-articular manifestations (p = 0.03), and a lower probability of clinical remission (p = 0.03) than the CARD8-L allele carriers. 17878386 2007
Inflammatory Bowel Diseases
CUI: C0021390
Disease: Inflammatory Bowel Diseases
0.030 GeneticVariation BEFREE There was no significant association between rs2043211 polymorphism and IBD, CD, and IC in overall population. 25564880 2015
Inflammatory Bowel Diseases
CUI: C0021390
Disease: Inflammatory Bowel Diseases
0.030 GeneticVariation BEFREE To understand the genetic association between CARD8/NALP3 and IBD in Koreans, we investigated seven CARD8, four NALP3 and four NOD2 SNPs in 650 Crohn's disease (CD), 660 ulcerative colitis (UC) patients and 688 controls from the Korean population. rs2043211 of CARD8 showed significant association with UC (P = 0.011; odds ratio = 1.50, 95% confidence intervals = 1.12-2.00, P = 0.006 under recessive model). 21248762 2011
Inflammatory Bowel Diseases
CUI: C0021390
Disease: Inflammatory Bowel Diseases
0.030 GeneticVariation BEFREE However, studies testing for the association of the CARD8 loss-of-function single-nucleotide polymorphism (SNP) rs2043211 with IBD have yielded mixed results. 20182451 2010
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
0.020 GeneticVariation BEFREE The stop allele of rs2043211 was associated with higher serum interleukin-1β levels only in female patients with UC (P = 0.027). 21248762 2011
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
0.020 GeneticVariation BEFREE We found neither evidence for genetic interactions between p.C10X and NOD2 nor the C10X variant to be associated with a CD or UC phenotype. 18092344 2008
Childhood Acute Lymphoblastic Leukemia
0.010 GeneticVariation BEFREE In conclusion, NF-κB-94 ins/del ATTG and CARD8 (rs2043211) genotypes might serve as novel biomarkers and potential targets for ALL. 31428046 2019
Precursor Cell Lymphoblastic Leukemia Lymphoma
0.010 GeneticVariation BEFREE Investigation of NF-κB-94ins/del ATTG and CARD8 (rs2043211) Gene Polymorphism in Acute Lymphoblastic Leukemia. 31428046 2019
Celiac Disease
CUI: C0007570
Disease: Celiac Disease
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
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
0.010 GeneticVariation BEFREE In conclusion, NF-κB-94 ins/del ATTG and CARD8 (rs2043211) genotypes might serve as novel biomarkers and potential targets for ALL. 31428046 2019
Diabetes Mellitus, Insulin-Dependent
0.010 GeneticVariation BEFREE On the other hand, we found no association of <i>NLRP3</i> rs35829419 and <i>CARD8</i> rs2043211 with the development of T1D, CD or both diseases together. 30915320 2019
Adult Acute Lymphocytic Leukemia
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
0.010 GeneticVariation BEFREE In conclusion, NF-κB-94 ins/del ATTG and CARD8 (rs2043211) genotypes might serve as novel biomarkers and potential targets for ALL. 31428046 2019