rs1982073
| Merged into | rs1800470 |
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | risk genotype for several disorders | |
| (C;T) | risk genotype for several disorders | |
| (T;T) | risk genotype for several disorders |
| Reference | GRCh38 38.1/142 |
| Chromosome | 19 |
| Position | 41353016 |
| Gene | TGFB1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1982073 |
| dbSNP (classic) | rs1982073 |
| ClinGen | rs1982073 |
| ebi | rs1982073 |
| HLI | rs1982073 |
| Exac | rs1982073 |
| Gnomad | rs1982073 |
| Varsome | rs1982073 |
| LitVar | rs1982073 |
| Map | rs1982073 |
| PheGenI | rs1982073 |
| Biobank | rs1982073 |
| 1000 genomes | rs1982073 |
| hgdp | rs1982073 |
| ensembl | rs1982073 |
| geneview | rs1982073 |
| scholar | rs1982073 |
| rs1982073 | |
| pharmgkb | rs1982073 |
| gwascentral | rs1982073 |
| openSNP | rs1982073 |
| 23andMe | rs1982073 |
| SNPshot | rs1982073 |
| SNPdbe | rs1982073 |
| MSV3d | rs1982073 |
| GWAS Ctlg | rs1982073 |
| Status | Merged into rs1800470 |
| Max Magnitude | 0 |
| ? | (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 lower 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]
- Chronic obstructive pulmonary disease (COPD)
- Although smoking is the main risk factor, smokers with a rs1982073(T) allele (or two other TGFB1 SNPs, rs2241712 and rs1800469) were more likely to develop COPD, based on a study of ~700 Caucasian subjects. [PMID 15175276]
- 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]
- Diabetes
- A study of 400 Caucasians with type 1 diabetes found an increased risk for diabetic nephropathy for carriers of rs1982073(T) alleles. [PMID 15606694]
- 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]
- Brucellosis
- A study of ~400 Iranian patients with brucellosis found that the rs1982073(C) allele was associated with increased risk. [PMID 17184296]
- Diabetes
- A study of 400 Caucasians with type-2 diabetes determined that rs1982073(C) was associated with diabetic nephropathy, and even more strongly with diabetic retinopathy; the odds ratio patients with retinopathy but not nephropathy versus uncomplicated diabetes was 3.17 (CI: 2.17-4.63), and the different results between type-2 diabetes and type-1 diabetes were potentially ascribed to population differences. [PMID 17622752]
- 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]
- Prostate cancer and benign prostatic hyperplasia (BPH)
- The rs1982073(C) allele was associated with a higher risk of developing prostate cancer as well as benign prostatic hyperplasia (BPH) in a study of 175 Brazilian patients, with odds ratio compared to the population of 2.6x and 3.6x, respectively. [PMID 18058470]
- 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]
- Patients homozygous for rs1982073(C) were at greatest risk (odds ratio 7.7, p=0.03) for graft versus host disease (GVD) after heart transplantation. [PMID 11391236]
- Ovarian cancer
- [PMID 18431743
] showed no association with ovarian cancer risk 4,624 invasive epithelial ovarian cancer cases and 8,113 controls of white non-Hispanic origin ovarian cancer
- [PMID 18431743
[PMID 19107437] Genetic polymorphisms in the transforming growth factor-beta signaling pathways and breast cancer risk and survival.
[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 Auto |PMID=19258388 |Title=Genetic variation in the transforming growth factor-{beta}1 gene is associated with susceptibility to IgA nephropathy. |OA=1 }}
[PMID 19380441
] 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 20332227] 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 23840350] TGFβ1 Polymorphisms Predict Distant Metastasis-Free Survival in Patients with Inoperable Non-Small-Cell Lung Cancer after Definitive Radiotherapy
[PMID 30321660] The correlation of TGFβ1 gene polymorphisms with congenital heart disease susceptibility.
