{{Rsnum
|rsid=1982073
|Gene=TGFB1
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Chromosome=19
|position=41353016
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Status=Merged
|Merged=1800470
|Gene_s=TGFB1
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 0.0 | 0.0 | 100.0
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 0.0 | 100.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}

{{ neighbor
| rsid = 1800471
| distance = 45
}}
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}}

*[[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|OA=1
}}  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|19107437}} Genetic polymorphisms in the transforming growth factor-beta signaling pathways and [[breast cancer]] risk and survival.

{{Venter SNP
|rsid=1982073
|allele=A
|frequency=1
|uid=1103691147417
|type=homozygous_SNP
|hugo=TGFB1
|ensembl gene=ENSG00000105329
|ensembl transcript=ENST00000221930
|sift=TOLERATED
|disease=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 Auto
|PMID=19258388
|Title=Genetic variation in the transforming growth factor-{beta}1 gene is associated with susceptibility to IgA nephropathy.
|OA=1
}}
{{PMID Auto
|PMID=19380441
|Title=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
}}

{{omim
|id=190180
|desc=TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1
|rsnum=1982073
}}

{{PMID Auto
|PMID=20332227
|Title=Single-Nucleotide Polymorphisms Inside MicroRNA Target Sites Influence Tumor Susceptibility
|OA=1
}}
{{PMID Auto
|PMID=20334523
|Title=Association between Normal Tissue Complications after Radiotherapy and Polymorphic Variations in TGFB1 and XRCC1 Genes
}}
{{PMID Auto
|PMID=20640597
|Title=Risk of aggressive breast cancer in women of Han nationality carrying TGFB1 rs1982073 C allele and FGFR2 rs1219648 G allele in North China
}}

{{PMID Auto
|PMID=22825972
|Title=The association of TGF-β1 codon 10 polymorphism with suicide behavior
}}

{{PMID Auto
|PMID=23059779
|Title=A Study of Ethnic Differences in TGFβ1 Gene Polymorphisms and Effects on the Risk of Radiation Pneumonitis in Non-Small-Cell Lung Cancer
}}

{{PMID Auto
|PMID=23840350
|Title=TGFβ1 Polymorphisms Predict Distant Metastasis-Free Survival in Patients with Inoperable Non-Small-Cell Lung Cancer after Definitive Radiotherapy
|OA=1
}}

{{on chip | 23andMe v2}}