rs1883832

Chromosome : 20 , Position: 46118343
Most conditions are affected by anywhere from hundreds to millions of genetic variants (SNPs). A single SNP usually has a minor contribution to a person’s overall genetic risk for a certain condition. That is why you shouldn't consider or act on a SNP in isolation. Instead, we use SNPs to determine polygenic risk scores (PRSs), which are the basis of most health reports.
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Reference AlleleT
Alternative Alleles:  A, G, C

Traits

Trait Variant Impact PMID Author (year)
Chronic hepatitis B infection C
Hepatology Jiang DK (2015)
Chronic inflammatory diseases (ankylosing spondylitis, Crohn's disease, psoriasis, primary sclerosing cholangitis, ulcerative colitis) (pleiotropy) [subset analysis] C
Nat Genet Ellinghaus D (2016)
Crohn's disease vs rheumatoid arthritis (ordinary least squares (OLS)) C
Nat Genet Peyrot WJ (2021)
Kawasaki disease C
J Hum Genet Johnson TA (2020)
Rheumatoid arthritis C
Ann Rheum Dis Ha E (2020)
Rheumatoid arthritis (ACPA-positive) C
Ann Rheum Dis Kim K (2014)

Summary

[PMID 18097708] Women with the TT genotype in rs1883832 had increased risk of osteopenia or osteoporosis.

[PMID 18287517] rs1883832(T;T) influence lymphoma [odds ratio (OR)=1.6, 95% confidence interval (CI)=1.1-2.4]

[PMID 20473910] A functional TNFRSF5 polymorphism and risk of non-Hodgkin lymphoma, a pooled analysis

[PMID 20504251] CD40-1C>T polymorphism (rs1883832) is associated with brain vessel reocclusion after fibrinolysis in ischemic stroke

[PMID 20634952] CD40: Novel Association with Crohn’s Disease and Replication in Multiple Sclerosis Susceptibility

[PMID 20682661] Influence of CD40 rs1883832 Polymorphism in Susceptibility to and Clinical Manifestations of Biopsy-proven Giant Cell Arteritis


[PMID 22087016] CD40 gene polymorphisms confer risk of Behcet’s disease but not of Vogt-Koyanagi-Harada syndrome in a Han Chinese population


[PMID 22302395] Influence of MIF, CD40, and CD226 polymorphisms on risk of rheumatoid arthritis


[PMID 18045485] The candidate genes TAF5L, TCF7, PDCD1, IL6 and ICAM1 cannot be excluded from having effects in type 1 diabetes.


[PMID 18591382] A novel polymorphism of the human CD40 receptor with enhanced function.


[PMID 18794853] Common variants at CD40 and other loci confer risk of rheumatoid arthritis.


[PMID 19159017] STAT2*C related genotypes and allele but not TLR4 and CD40 gene polymorphisms are associated with higher susceptibility for asthma.


[PMID 20577873] Gene-gene interaction between CD40 and CD40L reduces bone mineral density and increases osteoporosis risk in women.


[PMID 21091218] The CD40 gene polymorphism rs1883832 is associated with risk of acute coronary syndrome in a Chinese case-control study.


[PMID 22077624] A CD40 single-nucleotide polymorphism affects the lymphocyte profiles in the bronchoalveolar lavage of Japanese patients with sarcoidosis.




[PMID 23166616] Study of Association of CD40-CD154 Gene Polymorphisms with Disease Susceptibility and Cardiovascular Risk in Spanish Rheumatoid Arthritis Patients


[PMID 23256180] Association of genetic polymorphisms in CD40 with susceptibility to SLE in the Korean population


[PMID 23613777] Association of SNPs of CD40 gene with multiple sclerosis in Russians.


[PMID 24828072] The SNP rs1883832 in CD40 Gene and Risk of Atherosclerosis in Chinese Population: A Meta-Analysis


[PMID 25305459] Lack of association between CD40 polymorphisms and acute rejection in German liver transplant recipients


[PMID 25373542] Associations of rs4810485 and rs1883832 polymorphisms of CD40 gene with susceptibility and clinical findings of Behçet’s disease


[PMID 25802187] Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B


[PMID 26474561] The association of CD40 polymorphisms with CD40 serum levels and risk of systemic lupus erythematosus


[PMID 26545336] The Role of CD40 and CD40L in Bone Mineral Density and in Osteoporosis Risk: A genetic and functional study


[PMID 26823861] CD40 -1C>T polymorphism and the risk of lung cancer in a Chinese population.

More Information

Women with the TT genotype had a lower bone mineral density (BMD) at the femoral neck (FN) and at the lumbar spine (LS) sites and  an increased risk of osteopenia/osteoporosis in postmenopausal women [R1, R2].

The TT genotype was associated with an increased risk for non-Hodgkin lymphoma (NHL) (OR = 1.4; p for linear trend = 0.00009), diffuse large B-cell lymphoma (OR = 1.6; p for linear trend = 0.002) and follicular lymphoma (OR = 1.6; p for linear trend = 0.001) [R]. 

The frequency of the minor allele ''T'' was significantly higher in Crohn's disease (CD) patients than in controls [p = 0.002; OR = 1.19) [R]. 

A higher frequency of the TT homozygote was seen in patients with giant cell arteritis (GCA) compared to healthy controls (p = 0.05, OR 1.54). Also, a marginally significant increased frequency of the minor allele ''T'' was observed in patients with GCA who had visual ischemic manifestations (36.9%) compared to those without visual ischemic manifestations (27.7%; p = 0.04, OR 1.53). In this regard, patients with GCA carrying the minor allele ''T'' (either TT or TC) experienced visual ischemic manifestations more commonly than those carrying the CC genotype (58.5% vs 44.2%; p = 0.04, OR 1.78) [R].

A significantly increased frequency of the homozygous TT genotype was seen in Behçet's disease (BD) patients as compared with the controls (P = 0.006, odds ratio (OR) = 1.98, OR = 1.73) [R].

The frequency of the ''C'' allele was significantly higher among  acute coronary syndrome (ACS) patients compared with controls (60.3% vs. 49.4%, odds ratio=1.554, p<0.05) [R]. 

T-cell and CD4+ cell counts in the bronchoalveolar lavage fluid were significantly higher in the TT genotype group than in the CC and CT genotype group in patients with sarcoidosis [R].

''C'' allele was associated with an overall increased risk of atherosclerosis (OR = 1.631). However, a protective role was found for ''C'' allele in ischemic stroke (IS) under recessive model and additive model with reduced heterogeneity [R]. 

A significantly higher frequencies of CC genotype and the ''C'' allele was found in patients with genital ulcers (p < 0.05 for both, OR 2.30 and OR 1.78 respectively) [R]. 

 

Population Alleles Frequency

ethhicity frequency
A G C
African/African-American 0.9447
Latino/Admixed American 0.783
Ashkenazi Jewish 0.691
East Asian 0.5573
European 0.7544
Other (population not assigned) 0.7652

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