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From SNPedia

Merged intors1800470
Geno Mag Summary
(C;C) risk genotype for several disorders
(C;T) risk genotype for several disorders
(T;T) risk genotype for several disorders
ReferenceGRCh38 38.1/142
is asnp
is mentioned by
1000 genomesrs1982073
23andMe allrs1982073
SNP Nexus

GWAS Ctlgrs1982073
StatusMerged into rs1800470
Max Magnitude
? (C;C) (C;T) (T;T) 28

This snp has been merged into Rs1800470

rs1982073, also known as codon 10, +10T/C or T869C, a SNP in the first exon of the transforming growth factor beta1 TGFB1 gene, has been implicated in a wide variety of disorders, presumably connected through the role TGFB1 plays in suppressing the immune system.

The L10P allele of rs1982073 is associated with a slightly increased risk of breast cancer. [PMID 17293864]

The rs1982073(T) allele, generally associated with higher levels of TGFB1 protein production, has been associated with increased risk for the following:

  • Allograft rejection
    • The rs1982073(T) allele is associated with increased risk for subclinical allograft rejection with an odds ratio of 6.7 (p = 0.02). [PMID 16732186]
  • Cytopenia in patients with myelodysplastic syndrome (MDS)
    • rs1982073(T;T) homozygosity was associated with a severe degree of cytopenia (odds ratio 4.9, p = 0.0071) in patients with myelodysplastic syndrome (MDS), even though the genotype apparently does not predispose individuals to the disease. [PMID 16400883]
  • Pre-eclampsia and stillbirth
    • Although not associated with the overall risk, among women who developed eclampsia/pre-eclampsia with severe renal and neurological complications or had neonatal deaths/still births, the rs1982073(T) allele was more likely in a relatively small study (< 100 patients). [PMID 17653872]
  • Sarcoidosis and chronic beryllium disease
    • Although not associated with overall risk for developing the diseases, the rs1982073(T) allele was associated with the severity of granulomatous diseases such as chronic beryllium disease (CBD) and sarcoidosis, and a haplotype containing rs1982073(C) was protective against severe disease. [PMID 17785866]

On the other hand (strand?), the less common rs1982073(C) allele, generally associated with lower levels of TGFB1 protein production, has been associated with increased risk as follows:

  • The rs1982073(C) allele was significantly more frequent in patients with two Epstein Barr virus (EBV)-related diseases, specifically, primary acute infectious mononucleosis (IM) and hemophagocytic lymphohistiocytosis (EBV-HLH), than in controls (p<0.001). [PMID 18024394]
  • Alzheimer's disease
    • Both the rs1982073(C) allele and the (C;C) genotype were overrepresented in a study of ~200 patients compared to controls, independently of ApoE4 status. The (C;C) genotype was also overrepresented in patients progressing from MCI (mild cognitive impairment) to Alzheimer's, suggesting that TGFB1 may be an early marker of inflammatory mechanisms underlying Alzheimer's. [PMID 17889927]
  • Myopia
    • A study of 200 highly nearsighted Chinese Taiwanese found that people with the rs1982073(C;C) genotype were more likely to have high myopia compared to the (C;T) or (T;T) genotypes. The odds ratio was 1.83 (CI: 1.27-2.63, p<0.001). [PMID 16807529]
  • Ulcer
    • The rs1982073(C) allele was associated with risk for gastric ulcer with an odds ratio of 1.76 (CI: 1.12-2.77) in a study of 377 Russian patients. [PMID 17376051]

[PMID 19107437] Genetic polymorphisms in the transforming growth factor-beta signaling pathways and breast cancer risk and survival.

Venter snp
Source plos
Gene TGFB1
allele A
frequency 1
HuRef 1103691147417
Disease Association Defects in TGFB1 are the cause of Camurati-Engelmann disease (CED) (MIM:131300); also known as progressive diaphyseal dysplasia 1 (DPD1). CED is an autosomal dominant disorder characterized by hyperostosis and sclerosis of the diaphyses of long bones. The disease typically presents in early childhood with pain, muscular weakness and waddling gait, and in some cases other features such as exophthalmos, facial paralysis, hearing difficulties and loss of vision.

[PMID 19106168] an association of (C) with hypertension in rheumatoid arthritis patients

[PMID 19260117] rs1982073 chemoradiotherapy (C;C) and (C;T) were associated with a better disease-free and overall survival when compared with the low-producer TT genotype (hazard ratios for interaction 3.42, 95% CI 1.12-10.5 and 3.09, 95% CI 0.96-10.0, respectively)

[PMID 19258388OA-icon.png] Genetic variation in the transforming growth factor-{beta}1 gene is associated with susceptibility to IgA nephropathy.

[PMID 19380441OA-icon.png] Single Nucleotide Polymorphism at rs1982073:T869C of the TGF{beta}1 Gene Is Associated With the Risk of Radiation Pneumonitis in Patients With Non-Small-Cell Lung Cancer Treated With Definitive Radiotherapy

[PMID 20332227OA-icon.png] Single-Nucleotide Polymorphisms Inside MicroRNA Target Sites Influence Tumor Susceptibility

[PMID 20334523] Association between Normal Tissue Complications after Radiotherapy and Polymorphic Variations in TGFB1 and XRCC1 Genes

[PMID 20640597] Risk of aggressive breast cancer in women of Han nationality carrying TGFB1 rs1982073 C allele and FGFR2 rs1219648 G allele in North China

[PMID 22825972] The association of TGF-β1 codon 10 polymorphism with suicide behavior

[PMID 23059779] A Study of Ethnic Differences in TGFβ1 Gene Polymorphisms and Effects on the Risk of Radiation Pneumonitis in Non-Small-Cell Lung Cancer

[PMID 23840350OA-icon.png] TGFβ1 Polymorphisms Predict Distant Metastasis-Free Survival in Patients with Inoperable Non-Small-Cell Lung Cancer after Definitive Radiotherapy