rs1883832
This is a regulatory region variant variant in the CD40 gene.
▶GWAS Catalog Trait Associations (8)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (8)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
CD40 measurement
blood protein amount
rheumatoid arthritis, anti-citrullinated protein antibody seropositivity, rheumatoid factor seropositivity measurement
chronic hepatitis B virus infection
mucocutaneous lymph node syndrome
insomnia
rheumatoid arthritis, ACPA-positive rheumatoid arthritis, rheumatoid factor seropositivity measurement
rheumatoid arthritis
▶ClinVar annotation
▶Research that mentions this SNP (5)
▶Associations of rs4810485 and rs1883832 polymorphisms of CD40 gene with susceptibility and clinical findings of Behçet’s diseaseAssociationN=510Esra Erkol İnal et al.(2015)· Rheumatology International
A case-control study of 285 Turkish Behçet's disease patients and 225 controls found no significant association between CD40 SNPs rs4810485 and rs1883832 and overall disease susceptibility. However, the GT genotype of rs4810485 showed higher frequency in patients with skin lesions (OR 1.65, 95% CI 1.02-2.64), and the CC genotype and C allele of rs1883832 were associated with genital ulcers (OR 2.30, 95% CI 1.07-4.94; OR 1.78, 95% CI 1.06-2.97), though these associations did not survive Bonferroni correction.
▶Cancer risk in chronic hepatitis B: Do genome-wide association studies hit the mark?ReviewMarkus Casper et al.(2011)· Hepatology
This review synthesizes genome-wide association studies (GWAS) identifying host genetic factors affecting hepatitis B virus (HBV) infection outcomes. HBV persistence is predominantly associated with HLA genes (HLA-DP, HLA-DQ, HLA-C with OR 0.46-2.31) and immune-related genes including CFB, NOTCH4, CD40, UBE2L3, TCF19, and EHMT2. HBV persistence and hepatitis B vaccine nonresponse share overlapping genetic bases with HLA variants, while genetic risk factors for advanced liver diseases (cirrhosis, hepatocellular carcinoma) are largely distinct.
▶A functional TNFRSF5 polymorphism and risk of non‐Hodgkin lymphoma, a pooled analysisMeta-analysisN=6,222Alexandra Nieters et al.(2011)· International Journal of Cancer
A pooled analysis of 2,617 NHL cases and 3,605 controls examined the TNFRSF5 -1C>T polymorphism (rs1883832) and found that the TT genotype was associated with increased risk for all NHL (OR=1.4, p=0.00009), diffuse large B-cell lymphoma (OR=1.6, p=0.002), and follicular lymphoma (OR=1.6, p=0.001). The variant appears to reduce CD40 expression and expression, affecting germinal center B-cell development.
▶Gene–gene interaction between CD40 and CD40L reduces bone mineral density and increases osteoporosis risk in womenAssociationN=811Pineda B. et al.(2011)· Osteoporosis International
Association study of CD40 and CD40L gene polymorphisms with bone mineral density (BMD) in 811 postmenopausal women. Women with the TT genotype for rs1883832 (CD40) showed reduced femoral neck and lumbar spine BMD (P=0.005, P=0.020). A strong gene-gene interaction was identified between rs1883832 and rs1126535 (CD40L); women homozygous for T alleles at both loci had significantly lower BMD and increased osteoporosis risk (OR=2.76 at femoral neck, P=0.006).
▶A C >T polymorphism located at position −1 of the Kozak sequence of CD40 gene is associated with low bone mass in Spanish postmenopausal womenAssociationN=602Pineda B. et al.(2008)· Osteoporosis International
A polymorphism in the CD40 gene (rs1883832, C>T) located at position -1 of the Kozak consensus sequence was associated with reduced bone mineral density (BMD) in 602 Spanish postmenopausal women. Women with the TT genotype (8.6% prevalence) showed 6.2-6.3% lower BMD at femoral neck and lumbar spine compared to CC/CT genotypes, with odds ratios of 2.34 (95% CI: 1.12-4.89) and 2.49 (95% CI: 1.19-5.24) for osteopenia/osteoporosis, respectively, suggesting a recessive inheritance model.
About CD40
This gene is a member of the TNF-receptor superfamily. The encoded protein is a receptor on antigen-presenting cells of the immune system and is essential for mediating a broad variety of immune and inflammatory responses including T cell-dependent immunoglobulin class switching, memory B cell development, and germinal center formation. AT-hook transcription factor AKNA is reported to coordinately regulate the expression of this receptor and its ligand, which may be important for homotypic cell interactions. Adaptor protein TNFR2 interacts with this receptor and serves as a mediator of the signal transduction. The interaction of this receptor and its ligand is found to be necessary for amyloid-beta-induced microglial activation, and thus is thought to be an early event in Alzheimer disease pathogenesis. Mutations affecting this gene are the cause of autosomal recessive hyper-IgM immunodeficiency type 3 (HIGM3). Multiple alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Nov 2014]
View all CD40 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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