{{Rsnum
|rsid=1800470
|Gene=TGFB1
|Chromosome=19
|position=41353016
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.4444
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|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
}}Formerly known as the very well studied [[rs1982073]]

{{PMID Auto
|PMID=19365037
|Title=TGFB1 as a susceptibility gene for high myopia: a replication study with new findings
}}

{{PharmGKB
|RSID=rs1800470
|Name_s=TGFB1:Leu10Pro; TGFB1:T29C; TGFB1:T869C; TGFB1:Ex1-327T>C
|Gene_s=TGFB1
|Feature=Exon/NonSyn
|Evidence=PubMed ID:11740340; PubMed ID:16207846; PubMed ID:17018785; PubMed ID:17021946; PubMed ID:17023672; PubMed ID:17035001; PubMed ID:17157217; PubMed ID:17184296; PubMed ID:17213232; PubMed ID:17261758; PubMed ID:17293864; PubMed ID:17333284; PubMed ID:17368597; PubMed ID:17376051; PubMed ID:17400536; PubMed ID:17406643; PubMed ID:17579298; PubMed ID:17597658; PubMed ID:17615257; PubMed ID:17622752; PubMed ID:17653872; PubMed ID:17680535; PubMed ID:17707032; PubMed ID:17990985; PubMed ID:18024394
|Annotation=In conjunction with polymorphism at codon 25, defines high-, medium- or low-producer haplotype; Pro allele has been associated with higher levels of circulating TGFB1; Cystic Fibrosis patients who are C homozygotes may have increased risk of severe pulmonary disease; association found of C allele with increased risk of invasive breast cancer; associated with bone mineral density and genetic susceptibility to osteoporosis in Japanese adolescents and postmenopausal women; C allele may be involved in development of EBV-related diseases;C allele associated with increased risk for esophageal squamous cell carcinoma in Chinese; T allele associated with familial vesicoureteral reflux; C allele associated with increased severity of early renal injury in patients with essential hypertension; Homozygosity for the T allele may be associated with severe outcomes of eclampsia/pre-eclampsia in indigenous black Zimbabweans; C allele may be associated with an increased risk of nephropathy and retinopathy in type 2 diabetes patients; Pro/Pro associated with an increased risk of colorectal adenoma. May be associated with the process of urinary tract infection and vesicoureteral reflux;TT may be associated with development of autoantibodies and the occurrence of aseptic necrosis in patients with SLE; TT may be associated with severe form of chronic pancreatitis; Pro allele associated with susceptibility to gastric ulcer in Russians; C associated with increased risk of Nasopharyngeal cancer in a Chinese population; May be associated with asthma risk; C allele may be associated with development of colorectal cancer; T associated with risk for atherogenesis in the subclavian and intracranial arteries in a Japanese population; C allele may be associated with brucellosis susceptibility; May play a role in liver graft acceptance; Pro allele may be associated with risk of stroke; Associated with lumbar spine bone marrow density in postmenopausal Spanish women.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA161145115
}}

{{PMID Auto
|PMID=20233420
|Title=Cluster analysis in severe emphysema subjects using phenotype and genotype data: an exploratory investigation
|OA=1
}}

{{PMID Auto
|PMID=22066986
|Title=Association of 29C&gt;T polymorphism in the transforming growth factor-?1 gene with lean body mass in community-dwelling Japanese population
}}

{{PMID Auto
|PMID=22282866
|Title=The Effects of Functional Polymorphisms in the TGF?1 Gene on Nasopharyngeal Carcinoma Susceptibility
}}

{{PMID Auto
|PMID=22513132
|Title=Interaction between smoking and functional polymorphism in the TGFB1 gene is associated with ischaemic heart disease and myocardial infarction in patients with rheumatoid arthritis: a cross-sectional study
|OA=1
}}

{{PMID Auto
|PMID=22667340
|Title=Transforming growth factor beta 1 genotype and p16 as prognostic factors in head and neck squamous cell carcinoma
}}
{{PMID Auto
|PMID=15113441
|Title=Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes.
|OA=1
}}

{{PMID Auto
|PMID=15175276
|Title=The transforming growth factor-beta1 (TGFB1) gene is associated with chronic obstructive pulmonary disease (COPD).
}}

{{PMID Auto
|PMID=16543493
|Title=Association of transforming growth factor-beta1 gene polymorphisms with myocardial infarction in patients with angiographically proven coronary heart disease.
}}

{{PMID Auto
|PMID=16704031
|Title=Lack of association between COPD and transforming growth factor-beta1 (TGFB1) genetic polymorphisms in Koreans.
}}

{{PMID Auto
|PMID=16780585
|Title=Decorin and TGF-beta1 polymorphisms and development of COPD in a general population.
|OA=1
}}

{{PMID Auto
|PMID=17054776
|Title=The genetics of chronic obstructive pulmonary disease.
|OA=1
}}

{{PMID Auto
|PMID=17059371
|Title=Large-scale population-based study shows no association between common polymorphisms of the TGFB1 gene and BMD in women.
}}

{{PMID Auto
|PMID=17319955
|Title=Resequencing of genes for transforming growth factor beta1 (TGFB1) type 1 and 2 receptors (TGFBR1, TGFBR2), and association analysis of variants with diabetic nephropathy.
|OA=1
}}

{{PMID Auto
|PMID=17367212
|Title=Association between common variation in 120 candidate genes and breast cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=17673695
|Title=Transforming growth factor- 1 C-509T polymorphism, oxidant stress, and early-onset childhood asthma.
|OA=1
}}

{{PMID Auto
|PMID=17940599
|Title=Assembly of inflammation-related genes for pathway-focused genetic analysis.
|OA=1
}}

{{PMID Auto
|PMID=18041006
|Title=Association of TGF-beta1 codon 25 (G915C) polymorphism with hepatitis C virus infection.
}}

{{PMID Auto
|PMID=18284942
|Title=Large-scale analysis of association between polymorphisms in the transforming growth factor beta 1 gene (TGFB1) and osteoporosis: the GENOMOS study.
}}

{{PMID Auto
|PMID=18292811
|Title=Complex two-gene modulation of lung disease severity in children with cystic fibrosis.
|OA=1
}}

{{PMID Auto
|PMID=18424453
|Title=Interaction between a novel TGFB1 haplotype and CFTR genotype is associated with improved lung function in cystic fibrosis.
|OA=1
}}

{{PMID Auto
|PMID=18431743
|Title=Consortium analysis of 7 candidate SNPs for ovarian cancer.
|OA=1
}}

{{PMID Auto
|PMID=18640487
|Title=Association of donor inflammation- and apoptosis-related genotypes and delayed allograft function after kidney transplantation.
|OA=1
}}

{{PMID Auto
|PMID=18670143
|Title=The association of transforming growth factor beta 1 gene polymorphisms with the emphysema phenotype of COPD in Japanese.
}}

{{PMID Auto
|PMID=18676870
|Title=Variants in inflammation genes and the risk of biliary tract cancers and stones: a population-based study in China.
|OA=1
}}

{{PMID Auto
|PMID=18685869
|Title=TGF-beta1 gene polymorphisms and primary vesicoureteral reflux in childhood.
}}

{{PMID Auto
|PMID=18687755
|Title=Genetic variants in T helper cell type 1, 2 and 3 pathways and gastric cancer risk in a Polish population.
|OA=1
}}

{{PMID Auto
|PMID=18936436
|Title=Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
|OA=1
}}

{{PMID Auto
|PMID=19004027
|Title=TGFB1 and TGFBR1 polymorphic variants in relationship to bladder cancer risk and prognosis.
}}

{{PMID Auto
|PMID=19060265
|Title=High myopia is not associated with the SNPs in the TGIF, lumican, TGFB1, and HGF genes.
}}

{{PMID Auto
|PMID=19096005
|Title=Variants in TGFB1, dust mite exposure, and disease severity in children with asthma.
|OA=1
}}

{{PMID Auto
|PMID=19106168
|Title=Transforming growth factor-beta1 869T/C, but not interleukin-6 -174G/C, polymorphism associates with hypertension in rheumatoid arthritis.
}}

{{PMID Auto
|PMID=19107437
|Title=Genetic polymorphisms in the transforming growth factor-beta signaling pathways and breast cancer risk and survival.
}}

{{PMID Auto
|PMID=19258388
|Title=Genetic variation in the transforming growth factor-beta1 gene is associated with susceptibility to IgA nephropathy.
|OA=1
}}

{{PMID Auto
|PMID=19260117
|Title=Association between transforming growth factor beta1 genetic polymorphism and response to chemoradiotherapy in head and neck squamous cell cancer.
}}

{{PMID Auto
|PMID=19357773
|Title=Common variants of inflammatory cytokine genes are associated with risk of nephropathy in type 2 diabetes among Asian Indians.
|OA=1
}}

{{PMID Auto
|PMID=19380441
|Title=Single nucleotide polymorphism at rs1982073:T869C of the TGFbeta 1 gene is associated with the risk of radiation pneumonitis in patients with non-small-cell lung cancer treated with definitive radiotherapy.
}}

{{PMID Auto
|PMID=19566948
|Title=Polymorphisms of TGFB1 and VEGF genes and survival of patients with gastric cancer.
|OA=1
}}

{{PMID Auto
|PMID=19567509
|Title=Genetic variants and prostate cancer risk: candidate replication and exploration of viral restriction genes.
|OA=1
}}

{{PMID Auto
|PMID=19710942
|Title=Sclera-related gene polymorphisms in high myopia.
|OA=1
}}

{{PMID Auto
|PMID=19745160
|Title=Trend tests for genetic association using population-based cross-sectional complex survey data.
}}

{{PMID Auto
|PMID=19835575
|Title=The VEGF -634G>C promoter polymorphism is associated with risk of gastric cancer.
|OA=1
}}

{{PMID Auto
|PMID=19933216
|Title=The COPD genetic association compendium: a comprehensive online database of COPD genetic associations.
|OA=1
}}

{{PMID Auto
|PMID=20096948
|Title=No association between SNPs regulating TGF-beta1 secretion and late radiotherapy toxicity to the breast: results from the RAPPER study.
|OA=1
}}

{{PMID Auto
|PMID=20308003
|Title=TGFbeta1 genetic polymorphism is associated with survival in head and neck squamous cell carcinoma independent of the severity of chemoradiotherapy induced mucositis.
}}

{{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=20479942
|Title=Genetic risk factors in lupus nephritis and IgA nephropathy--no support of an overlap.
|OA=1
}}

{{PMID Auto
|PMID=20605201
|Title=Gene-environment interactions in 7610 women with breast cancer: prospective evidence from the Million Women Study.
|OA=1
}}

{{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=21320324
|Title=The role of IREB2 and transforming growth factor beta-1 genetic variants in COPD: a replication case-control study.
|OA=1
}}

{{PMID Auto
|PMID=21527583
|Title=TGF-beta signaling pathway and breast cancer susceptibility.
|OA=1
}}

{{PMID Auto
|PMID=21556788
|Title=Lack of association between the TGF-beta(1) gene and development of COPD in Asians: a case-control study and meta-analysis.
}}

{{PMID Auto
|PMID=21596841
|Title=Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium.
|OA=1
}}

{{PMID Auto
|PMID=22066665
|Title=Bone mineral density and genetic markers involved in three connected pathways (focal adhesion, actin cytoskeleton regulation and cell cycle): the CUMAGAS-BMD information system.
}}

{{PMID Auto
|PMID=22322241
|Title=PRKCB is associated with calcineurin inhibitor-induced renal dysfunction in heart transplant recipients.
}}

{{PMID Auto
|PMID=22385796
|Title=TGFbeta1 SNPs and radio-induced toxicity in prostate cancer patients.
}}

{{PMID Auto
|PMID=22532573
|Title=The role of genetic breast cancer susceptibility variants as prognostic factors.
|OA=1
}}

{{GET Evidence
|gene=TGFB1
|aa_change=Pro10Leu
|aa_change_short=P10L
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1800470
|overall_frequency_n=4771
|overall_frequency_d=7366
|overall_frequency=0.647706
|n_genomes=12
|n_genomes_annotated=0
|n_haplomes=17
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=7
|autoscore=3
|n_web_uneval=5
}}

{{PMID Auto
|PMID=22931704
|Title=The haplotype of the TGFβ1 gene associated with cerebral infarction in Chinese
}}

{{PMID Auto
|PMID=22662243
|Title=Meta-analysis of the association between transforming growth factor-beta polymorphisms and complications of coronary heart disease
|OA=1
}}

{{PMID Auto
|PMID=23734748
|Title=Association of genes of protease-antiprotease balance pathway to lung function and emphysema subtypes
|OA=1
}}
{{ClinVar
|ALT=A
|CAF=0.4444; 0.5556
|CHROM=19
|CLNACC=RCV000013360.23; RCV000013361.1; RCV000032141.1
|CLNALLE=1
|CLNDBN=Cystic fibrosis; Breast cancer, invasive, susceptibility to; Diaphyseal dysplasia
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1250:C0010674:219700:586:190905008; NBK1156:C0011989:131300:1328:34643004
|CLNHGVS=NC_000019.9:g.41858921G>A
|CLNSIG=255
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNSRCID=NBK1156; 190180.0007
|COMMON=1
|Disease=Cystic fibrosis; Breast cancer; Diaphyseal dysplasia
|FwdALT=T
|FwdREF=C
|GENEINFO=TGFB1:7040
|GENE_ID=7040
|GENE_NAME=TGFB1
|REF=G
|RSPOS=41858921
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;TPA;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;OM
|VC=SNV
|VP=0x050178000000150517110100
|WGT=0
|dbSNPBuildID=89
|rsid=1800470
}}

{{PMID Auto
|PMID=24060592
|Title=The TGF-B1 and IL-10 gene polymorphisms are associated with risk of developing silent myocardial ischemia in the diabetic patients
}}

{{PMID Auto
|PMID=23051628
|Title=Fibrosis-associated single-nucleotide polymorphisms in TGFB1 and CAV1 are not associated with the development of nephrogenic systemic fibrosis
}}

{{PMID Auto
|PMID=24142982
|Title=Genes involved in innate immunity associated with asbestos-related fibrotic changes
|OA=1
}}

{{PMID Auto
|PMID=23416372
|Title=Genetic variation in TGFB1 gene and risk of idiopathic recurrent pregnancy loss
}}
{{PMID Auto
|PMID=21833528
|Title=Susceptibility to ankylosing spondylitis: evidence for the role of ERAP1, TGFb1 and TLR9 gene polymorphisms.
}}

{{PMID Auto
|PMID=22579472
|Title=The IL6 gene polymorphism -634C>G and IL17F gene polymorphism 7488T>C influence bone mineral density in young and elderly Japanese women.
}}

{{PMID Auto
|PMID=22659181
|Title=Analysis of TGFB1 in European and Japanese Moyamoya disease patients.
}}

{{PMID Auto
|PMID=22724518
|Title=Transforming growth factor beta1-509C/T and +869T/C polymorphisms on the risk of upper digestive tract cancer: a meta-analysis based on 10,917 participants.
}}

{{PMID Auto
|PMID=22825972
|Title=The association of TGF-beta1 codon 10 polymorphism with suicide behavior.
}}

{{PMID Auto
|PMID=23029430
|Title=Prognostic role of host cyclooxygenase and cytokine genotypes in a Caucasian cohort of patients with gastric adenocarcinoma.
|OA=1
}}

{{PMID Auto
|PMID=23059779
|Title=A study of ethnic differences in TGFbeta1 gene polymorphisms and effects on the risk of radiation pneumonitis in non-small-cell lung cancer.
}}

{{PMID Auto
|PMID=23325483
|Title=Contribution of TGFbeta1 codon 10 polymorphism to high myopia in an ethnic Kashmiri population from India.
}}

{{PMID Auto
|PMID=23352795
|Title=Association of TGF-beta1 -509 C/T, 29 C/T and 788 C/T gene polymorphisms with chronic periodontitis: a case-control study.
}}

{{PMID Auto
|PMID=23438931
|Title=Relationships between selected gene polymorphisms and blood pressure sensitivity to weight loss in elderly persons with hypertension.
}}

{{PMID Auto
|PMID=25073350
|Title=[Genetic aspects of occupational chronic obstructive lung disease under exposure to various risk factors]
}}
{{on chip | 23andMe v2}}