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
Lymphoma, Follicular
CUI: C0024301
Disease: Lymphoma, Follicular
0.010 GeneticVariation BEFREE Data from earlier studies that are part of this pooling study implicate a functional polymorphism (-1C>T, rs1883832) in the TNFRSF5 gene encoding CD40 in the etiology of follicular lymphoma. 20473910 2011
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.730 GeneticVariation BEFREE Data from our pilot study indicate a potential association of rs1883832 CD40 gene polymorphism with susceptibility to RA. 23166616 2012
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
0.040 GeneticVariation BEFREE From our analysis, we can speculate that the association between rs1883832 and MS was induced by LD, whereas rs6074022 was a marker in stronger LD with the functional variant or was the functional variant itself. 23613777 2013
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
Hepatitis B, Chronic
CUI: C0524909
Disease: Hepatitis B, Chronic
0.700 GeneticVariation GWASCAT Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B. 25802187 2015
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
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
0.040 GeneticVariation BEFREE Genotyping of rs1883832C>T was performed in 1564 MS, 1102 CD and 969 ulcerative colitis (UC) Spanish patients and in 2948 ethnically matched controls by TaqMan chemistry. 20634952 2010
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
0.720 GeneticVariation BEFREE Genotyping of rs1883832C>T was performed in 1564 MS, 1102 CD and 969 ulcerative colitis (UC) Spanish patients and in 2948 ethnically matched controls by TaqMan chemistry. 20634952 2010
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
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.730 GeneticVariation GWASCAT High-density genotyping of immune loci in Koreans and Europeans identifies eight new rheumatoid arthritis risk loci. 24532676 2015
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
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
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
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
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
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
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.060 GeneticVariation BEFREE Moreover, genotypes carrying the CD40 rs1883832 C/T variant allele were associated with increased CD40 levels compared to the homozygous wild-type genotype in patients with SLE. 26474561 2015
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
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
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
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary 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
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
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
0.040 GeneticVariation BEFREE Our investigation revealed that CT individuals in rs1883832 locus of CD40 possessed almost 1.5-fold higher risk for MS than CC individuals (OR = 1.44; 95%CI = 1.03-2.1; p = 0.032), while this risk for TT individuals was almost 2.5-fold higher (OR = 2.36; 95%CI = 1.19-4.78; p = 0.014). 24912008 2014