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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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