rs1883832, CD40

N. diseases: 52
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
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
Acute Coronary Syndrome
CUI: C0948089
Disease: Acute Coronary Syndrome
0.010 GeneticVariation BEFREE The CD40 gene polymorphism rs1883832 is associated with risk of acute coronary syndrome in a Chinese case-control study. 21091218 2011
Adult Lymphoma
CUI: C1332206
Disease: Adult Lymphoma
0.010 GeneticVariation BEFREE We hypothesized that single nucleotide polymorphisms (SNPs) in TNFRSF5 and TNFSF5 encoding the CD40 and CD154 proteins, respectively, influence lymphoma risk, particularly a functional TNFRSF5 SNP (-1C>T, rs1883832) associated with reduced B-cell CD40 expression. 18287517 2008
Ankylosing spondylitis
CUI: C0038013
Disease: Ankylosing spondylitis
0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
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
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
Asthma
CUI: C0004096
Disease: Asthma
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
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
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
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
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
Behcet Syndrome
CUI: C0004943
Disease: Behcet Syndrome
0.030 GeneticVariation BEFREE The results suggest that TT genotypes of rs4810485 and rs1883832 may be predisposing genotypes for BD, and that the rs4810485 GT genotype may be a protective genotype for BD. 22087016 2012
Behcet Syndrome
CUI: C0004943
Disease: Behcet Syndrome
0.030 GeneticVariation BEFREE Associations of rs4810485 and rs1883832 polymorphisms of CD40 gene with susceptibility and clinical findings of Behçet's disease. 25373542 2015
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
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.010 GeneticVariation BEFREE In addition, our haplotype analysis indicated that the haplotype C(rs1883832)G(rs4810485), which was located within the only linkage disequilibrium (LD) block identified, was a protective haplotype for breast cancer, whereas T(rs1883832)T(rs4810485) increased the risk in the studied population, even after correcting the P value for multiple testing (P = 0.0337 and 0.0430, respectively). 21912605 2011
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma 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
cervical cancer
CUI: C4048328
Disease: cervical cancer
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
Cervix carcinoma
CUI: C0302592
Disease: Cervix carcinoma
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
Childhood Lymphoma
CUI: C1332979
Disease: Childhood Lymphoma
0.010 GeneticVariation BEFREE We hypothesized that single nucleotide polymorphisms (SNPs) in TNFRSF5 and TNFSF5 encoding the CD40 and CD154 proteins, respectively, influence lymphoma risk, particularly a functional TNFRSF5 SNP (-1C>T, rs1883832) associated with reduced B-cell CD40 expression. 18287517 2008
Cholangitis, Sclerosing
CUI: C0008313
Disease: Cholangitis, Sclerosing
0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
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
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.010 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
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
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