rs1883832, CD40

N. diseases: 52
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
Osteopenia
CUI: C0029453
Disease: Osteopenia
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
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
0.040 GeneticVariation BEFREE We investigated the cell specific gene and protein expression variation controlled by the CD40 genetic variant(s) associated with MS, i.e. the T-allele at rs1883832. 26068105 2015
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
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
Lymphoma
CUI: C0024299
Disease: 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
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
Recurrent aphthous ulcer
CUI: C2937365
Disease: Recurrent aphthous ulcer
0.010 GeneticVariation BEFREE To our knowledge, this is the first study regarding CD40 gene rs4810485 and rs1883832 mutations investigated in RAS patients. 27875792 2017
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
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
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
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
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
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
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.730 GeneticVariation BEFREE These results suggest that the CD40 SNPs rs1883832 and rs4810485 are not RA susceptibility markers in the western Mexican population. 27813548 2016
Osteoarthritis, Knee
CUI: C0409959
Disease: Osteoarthritis, Knee
0.010 GeneticVariation BEFREE These data provide evidences that rs4810485 G > T and rs1883832 C > T in the CD40 gene may be associated with disease susceptibility and severity in KOA. 28320398 2017
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.060 GeneticVariation BEFREE There were significant differences in the genotype and allele frequencies of CD40 gene rs1883832C/T polymorphism between the group of patients with SLE and the control group (P < 0.05). sCD40 levels were increased in patients with SLE compared with controls (P < 0.01). 26474561 2015
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
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
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
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.720 GeneticVariation BEFREE The impact of CD40 rs1883832 on MS and CD risk points to a common signaling shared by these autoimmune conditions. 20634952 2010
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
0.040 GeneticVariation BEFREE The impact of CD40 rs1883832 on MS and CD risk points to a common signaling shared by these autoimmune conditions. 20634952 2010
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
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