{{Rsnum
|rsid=1800469
|Gene=TGFB1
|Chromosome=19
|position=41354391
|Orientation=plus
|GMAF=0.3586
|Gene_s=B9D2,TGFB1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 53.1 | 36.3 | 10.6
| HCB | 29.2 | 46.7 | 24.1
| JPT | 29.2 | 50.4 | 20.4
| YRI | 57.8 | 33.3 | 8.8
| ASW | 66.1 | 28.6 | 5.4
| CHB | 29.2 | 46.7 | 24.1
| CHD | 20.2 | 41.3 | 38.5
| GIH | 38.6 | 44.6 | 16.8
| LWK | 62.4 | 32.1 | 5.5
| MEX | 37.9 | 50.0 | 12.1
| MKK | 65.4 | 30.8 | 3.8
| TSI | 37.3 | 45.1 | 17.6
| HapMapRevision=28
}}
[[rs1800469]], a SNP in the promoter region of the transforming growth factor beta1 [[TGFB1]] gene has been associated with increased risk for [[chronic obstructive pulmonary disease]] (COPD). Although smoking is the main risk factor, smokers with a [[rs1800469]](C) allele (or 2 other [[TGFB1]] SNPs, [[rs1982073]] and [[rs2241712]]) were more likely to develop COPD, based on a study of ~700 Caucasian subjects {{PMID|15175276}}

{{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
|desc=TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1
|id=190180
|rsnum=1800469
}}
{{PMID Auto
|PMID=19559392
|Title=A candidate gene association study of 77 polymorphisms in migraine
|OA=1
}}

{{PharmGKB
|RSID=rs1800469
|Name_s=TGFB1:(-) 509 C>T; TGFB1:(-)1347 C>T
|Gene_s=TGFB1
|Feature=Intron
|Evidence=PubMed ID:11740340; PubMed ID:17023672; PubMed ID:17187359; PubMed ID:17214746; PubMed ID:17237561; PubMed ID:17325707; PubMed ID:17333284; PubMed ID:17368597; PubMed ID:17376051; PubMed ID:17597658; PubMed ID:17615257; PubMed ID:17707032; PubMed ID:18036644; PubMed ID:9887336
|Annotation=T allele associated with increased plasma concentrations of TGFB1;associated with bone density and risk of osteoporosis in postmenopausal Japanese women; may be related to development of asthma;C allele associated with familial vesicoureteral reflux; TT may be associated with increased risk of colorectal adenoma; may be associated with decreased risk of colorectal carcinoma; CC associated with urinary tract infection (UTI) and vesicoureteral reflux (VUR); May have a role in gastric ulcer disease; T associated with increased risk of Nasopharyngeal cancer in a Chinese population; T allele associated with increased risk of fibrosis in breast cancer patients treated with radiotherapy; C allele may be associated with Idiopathic Chronic Urticaria; T allele associated with decreased risk of gastric cancer; T allele may be associated with risk of stroke.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA161145116
}}

{{omim
|id=219700
|rsnum=1800469
}}

{{PMID Auto
|PMID=22053598
|Title=Association of TGF-beta1, IL-4 and IL-13 gene polymerphisms with asthma in a Chinese 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=22558067
|Title=Genes in the ureteric budding pathway: association study on vesico-ureteral reflux patients.
|OA=1
}}

{{PMID Auto
|PMID=15113403
|Title=Current limitations of SNP data from the public domain for studies of complex disorders: a test for ten candidate genes for obesity and osteoporosis.
|OA=1
}}

{{PMID Auto
|PMID=15157284
|Title=Patterns of linkage disequilibrium and haplotype distribution in disease candidate genes.
|OA=1
}}

{{PMID Auto
|PMID=15726497
|Title=Gene-environment interaction effects on the development of immune responses in the 1st year of life.
|OA=1
}}

{{PMID Auto
|PMID=16385446
|Title=A testing framework for identifying susceptibility genes in the presence of epistasis.
|OA=1
}}

{{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=16872485
|Title=Three allele combinations associated with multiple sclerosis.
|OA=1
}}

{{PMID Auto
|PMID=16896927
|Title=A molecular mechanism for the differential regulation of TGF-beta1 expression due to the common SNP -509C-T (c. -1347C > T).
}}

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

{{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=18366677
|Title=Genes implicated in multiple sclerosis pathogenesis from consilience of genotyping and expression profiles in relapse and remission.
|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=18551993
|Title=SNP combinations in chromosome-wide genes are associated with bone mineral density in Taiwanese women.
}}

{{PMID Auto
|PMID=18571008
|Title=Genetic susceptibility of epidermal growth factor +61A>G and transforming growth factor beta1 -509C>T gene polymorphisms with gallbladder cancer.
}}

{{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=18805939
|Title=Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.
|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=19096005
|Title=Variants in TGFB1, dust mite exposure, and disease severity in children with asthma.
|OA=1
}}

{{PMID Auto
|PMID=19131662
|Title=A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.
|OA=1
}}

{{PMID Auto
|PMID=19173720
|Title=Low frequency of CD4+CD25+ Treg in SLE patients: a heritable trait associated with CTLA4 and TGFbeta gene variants.
|OA=1
}}

{{PMID Auto
|PMID=19263529
|Title=Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.
|OA=1
}}

{{PMID Auto
|PMID=19330901
|Title=Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.
|OA=1
}}

{{PMID Auto
|PMID=19356949
|Title=Cytokine SNPs: Comparison of allele frequencies by race and implications for future studies.
|OA=1
}}

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

{{PMID Auto
|PMID=19835575
|Title=The VEGF -634G>C promoter polymorphism is associated with risk of gastric cancer.
|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=20233420
|Title=Cluster analysis in severe emphysema subjects using phenotype and genotype data: an exploratory investigation.
|OA=1
}}

{{PMID Auto
|PMID=20360039
|Title=Components of the transforming growth factor-beta family and the pathogenesis of human Achilles tendon pathology--a genetic association study.
}}

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

{{PMID Auto
|PMID=20565774
|Title=Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
|OA=1
}}

{{PMID Auto
|PMID=20617153
|Title=Detection of fetomaternal genotype associations in early-onset disorders: evaluation of different methods and their application to childhood leukemia.
|OA=1
}}

{{PMID Auto
|PMID=21068203
|Title=Genetic variation in the TGF-beta signaling pathway and colon and rectal cancer risk.
|OA=1
}}

{{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=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=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=22135187
|Title=Variants in ABCB1, TGFB1, and XRCC1 genes and susceptibility to viral hepatitis A infection in Mexican Americans.
}}

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

{{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
}}

{{GET Evidence
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1800469
|overall_frequency_n=80
|overall_frequency_d=124
|overall_frequency=0.645161
|n_genomes=44
|n_genomes_annotated=0
|n_haplomes=64
|n_articles=0
|n_articles_annotated=0
|in_pharmgkb=Y
|autoscore=1
|webscore=N
}}

{{PMID Auto
|PMID=23094028
|Title=Genetic association analysis of complex diseases incorporating intermediate phenotype information
|OA=1
}}

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

{{PMID Auto
|PMID=23199655
|Title=Individual patient data meta-analysis shows no association between the SNP rs1800469 in TGFB and late radiotherapy toxicity
|OA=1
}}

{{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=23446766
|Title=Transforming Growth Factor Beta 1 is a Novel Susceptibility Gene for Adolescent Idiopathic Scoliosis
}}

{{PMID Auto
|PMID=23298194
|Title=Epistatic study reveals two genetic interactions in blood pressure regulation
|OA=1
}}

{{PMID Auto
|PMID=23734748
|Title=Association of genes of protease-antiprotease balance pathway to lung function and emphysema subtypes
|OA=1
}}

{{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
}}

{{ClinVar
|ALT=G
|CAF=0.3586; 0.6414
|CHROM=19
|CLNACC=RCV000032585.1
|CLNALLE=1
|CLNDBN=Diaphyseal dysplasia
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1156:C0011989:131300:1328:34643004
|CLNHGVS=NC_000019.9:g.41860296A>G
|CLNSIG=2
|CLNSRC=GeneReviews
|CLNSRCID=NBK1156
|COMMON=1
|Disease=Diaphyseal dysplasia
|FwdALT=C
|FwdREF=T
|GENEINFO=B9D2:80776; TGFB1:7040
|GENE_ID=80776; 7040
|GENE_NAME=B9D2; TGFB1
|REF=A
|RSPOS=41860296
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;TPA;PMC;SLO;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|VC=SNV
|VP=0x05017800000017051f110100
|WGT=0
|dbSNPBuildID=89
|rsid=1800469
}}

{{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=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=23996684
|Title=Cytokine and cytokine receptor genes of the adaptive immune response are differentially associated with breast cancer risk in American women of African and European ancestry
}}

{{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=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.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}