rs1883832, CD40

N. diseases: 52
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
0.030 GeneticVariation BEFREE CD40-1C>T polymorphism (rs1883832) is associated with brain vessel reocclusion after fibrinolysis in ischemic stroke. 20504251 2010
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
0.030 GeneticVariation BEFREE This meta-analysis provided evidence of association of rs1883832 C allele with an overall increased risk of atherosclerosis but distinct effect of C allele on CAD (including ACS) and IS in Chinese population, respectively. 24828072 2014
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
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.020 GeneticVariation BEFREE A functional polymorphism (-1C>T, rs1883832) in the 5' untranslated region of TNFRSF5 gene has been reported to affect CD40 expression and be associated with several chronic inflammatory and autoimmune diseases. 21091218 2011
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 This meta-analysis provided evidence of association of rs1883832 C allele with an overall increased risk of atherosclerosis but distinct effect of C allele on CAD (including ACS) and IS in Chinese population, respectively. 24828072 2014
Giant Cell Arteritis
CUI: C0039483
Disease: Giant Cell Arteritis
0.020 GeneticVariation BEFREE Our results suggest a potential implication of the CD40 rs1883832 C/T polymorphism in susceptibility to visual ischemic manifestations in individuals with biopsy-proven GCA. 20682661 2010
Acute Chest Syndrome
CUI: C0742343
Disease: Acute Chest Syndrome
0.020 GeneticVariation BEFREE This meta-analysis provided evidence of association of rs1883832 C allele with an overall increased risk of atherosclerosis but distinct effect of C allele on CAD (including ACS) and IS in Chinese population, respectively. 24828072 2014
Atherosclerosis
CUI: C0004153
Disease: Atherosclerosis
0.020 GeneticVariation BEFREE This meta-analysis provided evidence of association of rs1883832 C allele with an overall increased risk of atherosclerosis but distinct effect of C allele on CAD (including ACS) and IS in Chinese population, respectively. 24828072 2014
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
Acute Chest Syndrome
CUI: C0742343
Disease: Acute Chest Syndrome
0.020 GeneticVariation BEFREE The distribution of the rs1883832 genotypes (CC, CT, and TT) was 33.1%, 54.4%, and 12.5% in the ACS group and 22.8%, 53.3%, and 23.9% in controls, respectively. 21091218 2011
Sarcoidosis
CUI: C0036202
Disease: Sarcoidosis
0.020 GeneticVariation BEFREE Genotyping of rs1883832 in 175 Japanese patients with sarcoidosis and 150 age- and sex-matched controls revealed no significant difference between the genotypes of the patient and control groups (CC/CT/TT, 32.8/52.0/14.7% in the patients; 37.3/48.0/14.7% in the controls, P = 0.66; allele C, 59.1% in the patients, 61.3% in the controls, P = 0.57). 22077624 2011
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
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.020 GeneticVariation BEFREE Two single nucleotide polymorphisms (SNPs) in the CD40 gene, rs1883832 and rs4810485, are associated with susceptibility to inflammatory and autoimmune diseases and are thought to alter CD40 expression at the mRNA and protein level. 27813548 2016
Osteoporosis
CUI: C0029456
Disease: Osteoporosis
0.010 GeneticVariation BEFREE Women with the TT genotype in rs1883832 SNP affecting to Kozak consensus sequence of CD40 gene had lower BMD at FN and at LS sites and increased risk of osteopenia or osteoporosis. 18097708 2008
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
Neuromyelitis Optica
CUI: C0027873
Disease: Neuromyelitis Optica
0.010 GeneticVariation BEFREE Other three SNPs showed protections on NMOSD in dominant models (rs6074022, OR = 0.64, 95 % CI 0.42-0.95, P = 0.031; rs1883832, OR = 0.65, 95 % CI 0.43-0.97, P = 0.036; and rs4810485, OR = 0.63, 95 % CI 0.42-0.95, P = 0.029, respectively), but not significantly after Bonferroni corrections for multiple tests. 27578014 2017
Malignant tumor of cervix
CUI: C0007847
Disease: Malignant tumor of cervix
0.010 GeneticVariation BEFREE The data from our study indicates a potential association between the rs1883832 and rs3765459 CD40 gene polymorphism and susceptibility to cervical cancer. 28181356 2017
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
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.010 GeneticVariation BEFREE Our findings suggest that the CD40 -1C/T SNP (rs1883832) is correlated with the susceptibility to lung cancer in Chinese, and the TT genotype may further increase the risk of lung cancer. 26823861 2015
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
Uveomeningoencephalitic Syndrome
CUI: C0042170
Disease: Uveomeningoencephalitic 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
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