rs1883832, CD40

N. diseases: 52
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.060 GeneticVariation BEFREE This study aimed to evaluate the association of CD40 polymorphisms (-1 C > T, rs1883832 and 6,048 G > T, rs4810485) with SLE susceptibility, as well as with mRNA expression and soluble CD40 (sCD40) levels. 31642196 2019
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
0.010 GeneticVariation BEFREE In addition, the results of the cumulative effects showed a tendency of that the more risk alleles (rs1535045 T and rs1883832 T) subjects carried, the more possibility of HCV infection exhibited (P<0.001). 31615434 2019
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.060 GeneticVariation BEFREE Furthermore, a significant association was reported between systemic lupus erythematosus and the C allele of <i>CD40</i> rs1883832 polymorphism (odds ratio = 1.235, 95% confidence interval = 1.087-1.405, <i>p</i> = 0.001) and A allele of <i>CD40</i> rs3765456 polymorphism and systemic lupus erythematosus in Asians (odds ratio = 1.184, 95% confidence interval = 1.040-1.348, <i>p</i> = 0.011). sCD40 and sCD40L levels were significantly higher in SLE than in controls (standardized mean difference = 1.564, 95% confidence interval = 0.256-2.872, <i>p</i> = 0.019 and standardized mean difference = 1.499, 95% confidence interval = 1.031-1.967, <i>p</i> < 0.001, respectively). 31570051 2019
Atherosclerosis
CUI: C0004153
Disease: Atherosclerosis
0.020 GeneticVariation BEFREE Homozygosity for the C allele of the -1T>C SNP of the CD40 gene (rs1883832) results in an enhanced CD40 surface abundance and pro-inflammatory phenotype of vascular endothelial cells, increasing the susceptibility to atherosclerosis and CHD in humans.This appears to be compensated by an enhanced shedding of sCD40 from the endothelial cell membrane to neutralize excess CD40 ligand. sCD40 might be a potential new biomarker for the pro-inflammatory processes occurring in atherosclerosis. 31373353 2019
Arteriosclerosis
CUI: C0003850
Disease: Arteriosclerosis
0.020 GeneticVariation BEFREE Homozygosity for the C allele of the -1T>C SNP of the CD40 gene (rs1883832) results in an enhanced CD40 surface abundance and pro-inflammatory phenotype of vascular endothelial cells, increasing the susceptibility to atherosclerosis and CHD in humans.This appears to be compensated by an enhanced shedding of sCD40 from the endothelial cell membrane to neutralize excess CD40 ligand. sCD40 might be a potential new biomarker for the pro-inflammatory processes occurring in atherosclerosis. 31373353 2019
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.010 GeneticVariation BEFREE Homozygosity for the C allele of the -1T>C SNP of the CD40 gene (rs1883832) results in an enhanced CD40 surface abundance and pro-inflammatory phenotype of vascular endothelial cells, increasing the susceptibility to atherosclerosis and CHD in humans.This appears to be compensated by an enhanced shedding of sCD40 from the endothelial cell membrane to neutralize excess CD40 ligand. sCD40 might be a potential new biomarker for the pro-inflammatory processes occurring in atherosclerosis. 31373353 2019
Graves Disease
CUI: C0018213
Disease: Graves Disease
0.030 GeneticVariation BEFREE In Caucasians, rs1883832 was associated with GD risk under the dominant model (CT + TT vs CC, OR=0.82, 95 % CI: 0.68-0.99, P=0.042). 30956635 2019
Thyroid associated opthalmopathies
CUI: C0339143
Disease: Thyroid associated opthalmopathies
0.010 GeneticVariation BEFREE Besides GD, we evaluated the relation of rs1883832 with Graves' ophthalmopathy</span> (GO), finding that rs1883832 was associated with GO under the dominant model (CT + TT vs CC, OR=0.82, 95 % CI: 0.69-0.98, P=0.031). 30956635 2019
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.010 GeneticVariation BEFREE <b>Conclusions:</b> Our work showed a significant association between the -1 C>T (rs1883832) polymorphism of the CD40 gene and MI in the Tunisians. 30924686 2019
Migraine Disorders
CUI: C0149931
Disease: Migraine Disorders
0.010 GeneticVariation BEFREE Our findings showed that in CD40 rs1883832, TC genotype may have a role in migraine susceptibility. 30511624 2018
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.060 GeneticVariation BEFREE The study did not prove CD40 gene (rs1883832 C/T) polymorphism as a clear risk factor of SLE in this cohort of Egyptian patients, though it was highly likely associated with the carriers of T allele. 30374748 2019
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.060 GeneticVariation BEFREE The association of CD40 polymorphism (rs1883832C/T) and soluble CD40 with the risk of systemic lupus erythematosus among Egyptian patients. 30374748 2019
Graves Disease
CUI: C0018213
Disease: Graves Disease
0.030 GeneticVariation BEFREE Genotypic and allelic frequencies of SNP rs231775, rs3087243 and rs1883832 were statistically different between controls and G</span>D (p < 0.05). 30223781 2018
Septicemia
CUI: C0036690
Disease: Septicemia
0.010 GeneticVariation BEFREE The results showed that the frequencies of the TT genotype and the <i>CD40</i> rs1883832 T allele were significantly higher in sepsis patients than in healthy controls. 29780830 2018
Sepsis
CUI: C0243026
Disease: Sepsis
0.010 GeneticVariation BEFREE The results showed that the frequencies of the TT genotype and the <i>CD40</i> rs1883832 T allele were significantly higher in sepsis patients than in healthy controls. 29780830 2018
Complete atrioventricular block
CUI: C0151517
Disease: Complete atrioventricular block
0.010 GeneticVariation BEFREE rs1883832 serves as a valuable predictive factor for CHB patients with HBeAg seroconversion. rs9277535 at HLA-DP might also be a valuable predictive factor for CHB patients with HBeAg-negative, however, further verifications are recommended due to study limitations. 29451182 2018
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.730 GeneticVariation BEFREE CD40 rs1883832 is associated with decreased risk of Graves' disease, especially in Asian; CD40 rs1883832 is associated with increased risk of multiple sclerosis; CD40 -1C>T (rs1883832) is not associated with the susceptibility of Hashimoto's thyroiditis, systemic sclerosis or Asthma; there is insufficient data to fully confirm the association between CD40 rs1883832 and systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), Behçet's disease (BD), myasthenia gravis (MG), Crohn's disease (CD), ulcerative colitis (UC), Sarcoidosis, Fuch uveitis syndrome (FUS), Vogt-Koyanagi-Harada syndrome (VKH), Kawasaki disease (KD), giant cell arteritis (GCA) or Immune thrombocytopenia (ITP). 29254239 2017
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.720 GeneticVariation BEFREE CD40 rs1883832 is associated with decreased risk of Graves' disease, especially in Asian; CD40 rs1883832 is associated with increased risk of multiple sclerosis; CD40 -1C>T (rs1883832) is not associated with the susceptibility of Hashimoto's thyroiditis, systemic sclerosis or Asthma; there is insufficient data to fully confirm the association between CD40 rs1883832 and systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), Behçet's disease (BD), myasthenia gravis (MG), Crohn's disease (CD), ulcerative colitis (UC), Sarcoidosis, Fuch uveitis syndrome (FUS), Vogt-Koyanagi-Harada syndrome (VKH), Kawasaki disease (KD), giant cell arteritis (GCA) or Immune thrombocytopenia (ITP). 29254239 2017
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
0.720 GeneticVariation BEFREE CD40 rs1883832 is associated with decreased risk of Graves' disease, especially in Asian; CD40 rs1883832 is associated with increased risk of multiple sclerosis; CD40 -1C>T (rs1883832) is not associated with the susceptibility of Hashimoto's thyroiditis, systemic sclerosis or Asthma; there is insufficient data to fully confirm the association between CD40 rs1883832 and systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), Behçet's disease (BD), myasthenia gravis (MG), Crohn's disease (CD), ulcerative colitis (UC), Sarcoidosis, Fuch uveitis syndrome (FUS), Vogt-Koyanagi-Harada syndrome (VKH), Kawasaki disease (KD), giant cell arteritis (GCA) or Immune thrombocytopenia (ITP). 29254239 2017
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.060 GeneticVariation BEFREE CD40 rs1883832 is associated with decreased risk of Graves' disease, especially in Asian; CD40 rs1883832 is associated with increased risk of multiple sclerosis; CD40 -1C>T (rs1883832) is not associated with the susceptibility of Hashimoto's thyroiditis, systemic sclerosis or Asthma; there is insufficient data to fully confirm the association between CD40 rs1883832 and systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), Behçet's disease (BD), myasthenia gravis (MG), Crohn's disease (CD), ulcerative colitis (UC), Sarcoidosis, Fuch uveitis syndrome (FUS), Vogt-Koyanagi-Harada syndrome (VKH), Kawasaki disease (KD), giant cell arteritis (GCA) or Immune thrombocytopenia (ITP). 29254239 2017
Graves Disease
CUI: C0018213
Disease: Graves Disease
0.030 GeneticVariation BEFREE CD40 rs1883832 is associated with decreased risk of Graves' disease, especially in Asian; CD40 rs1883832 is associated with increased risk of multiple sclerosis; CD40 -1C>T (rs1883832) is not associated with the susceptibility of Hashimoto's thyroiditis, systemic sclerosis or Asthma; there is insufficient data to fully confirm the association between CD40 rs1883832 and systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), Behçet's disease (BD), myasthenia gravis (MG), Crohn's disease (CD), ulcerative colitis (UC), Sarcoidosis, Fuch uveitis syndrome (FUS), Vogt-Koyanagi-Harada syndrome (VKH), Kawasaki disease (KD), giant cell arteritis (GCA) or Immune thrombocytopenia (ITP). 29254239 2017
Behcet Syndrome
CUI: C0004943
Disease: Behcet Syndrome
0.030 GeneticVariation BEFREE CD40 rs1883832 is associated with decreased risk of Graves' disease, especially in Asian; CD40 rs1883832 is associated with increased risk of multiple sclerosis; CD40 -1C>T (rs1883832) is not associated with the susceptibility of Hashimoto's thyroiditis, systemic sclerosis or Asthma; there is insufficient data to fully confirm the association between CD40 rs1883832 and systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), Behçet's disease (BD), myasthenia gravis (MG), Crohn's disease (CD), ulcerative colitis (UC), Sarcoidosis, Fuch uveitis syndrome (FUS), Vogt-Koyanagi-Harada syndrome (VKH), Kawasaki disease (KD), giant cell arteritis (GCA) or Immune thrombocytopenia (ITP). 29254239 2017
Giant Cell Arteritis
CUI: C0039483
Disease: Giant Cell Arteritis
0.020 GeneticVariation BEFREE CD40 rs1883832 is associated with decreased risk of Graves' disease, especially in Asian; CD40 rs1883832 is associated with increased risk of multiple sclerosis; CD40 -1C>T (rs1883832) is not associated with the susceptibility of Hashimoto's thyroiditis, systemic sclerosis or Asthma; there is insufficient data to fully confirm the association between CD40 rs1883832 and systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), Behçet's disease (BD), myasthenia gravis (MG), Crohn's disease (CD), ulcerative colitis (UC), Sarcoidosis, Fuch uveitis syndrome (FUS), Vogt-Koyanagi-Harada syndrome (VKH), Kawasaki disease (KD), giant cell arteritis (GCA) or Immune thrombocytopenia (ITP). 29254239 2017
Sarcoidosis
CUI: C0036202
Disease: Sarcoidosis
0.020 GeneticVariation BEFREE CD40 rs1883832 is associated with decreased risk of Graves' disease, especially in Asian; CD40 rs1883832 is associated with increased risk of multiple sclerosis; CD40 -1C>T (rs1883832) is not associated with the susceptibility of Hashimoto's thyroiditis, systemic sclerosis or Asthma; there is insufficient data to fully confirm the association between CD40 rs1883832 and systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), Behçet's disease (BD), myasthenia gravis (MG), Crohn's disease (CD), ulcerative colitis (UC), Sarcoidosis, Fuch uveitis syndrome (FUS), Vogt-Koyanagi-Harada syndrome (VKH), Kawasaki disease (KD), giant cell arteritis (GCA) or Immune thrombocytopenia (ITP). 29254239 2017
Mucocutaneous Lymph Node Syndrome
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
0.010 GeneticVariation BEFREE CD40 rs1883832 is associated with decreased risk of Graves' disease, especially in Asian; CD40 rs1883832 is associated with increased risk of multiple sclerosis; CD40 -1C>T (rs1883832) is not associated with the susceptibility of Hashimoto's thyroiditis, systemic sclerosis or Asthma; there is insufficient data to fully confirm the association between CD40 rs1883832 and systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), Behçet's disease (BD), myasthenia gravis (MG), Crohn's disease (CD), ulcerative colitis (UC), Sarcoidosis, Fuch uveitis syndrome (FUS), Vogt-Koyanagi-Harada syndrome (VKH), Kawasaki disease (KD), giant cell arteritis (GCA) or Immune thrombocytopenia (ITP). 29254239 2017