rs1800469
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 1 | lower TGF-β1 levels, higher risk for COPD? |
| (C;T) | 1 | slightly higher TGF-β1 levels, higher risk for COPD? |
| (T;T) | 1 | higher TGF-β1 levels |
| Reference | GRCh38 38.1/142 |
| Chromosome | 19 |
| Position | 41354391 |
| Gene | B9D2, TGFB1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800469 |
| dbSNP (classic) | rs1800469 |
| ClinGen | rs1800469 |
| ebi | rs1800469 |
| HLI | rs1800469 |
| Exac | rs1800469 |
| Gnomad | rs1800469 |
| Varsome | rs1800469 |
| LitVar | rs1800469 |
| Map | rs1800469 |
| PheGenI | rs1800469 |
| Biobank | rs1800469 |
| 1000 genomes | rs1800469 |
| hgdp | rs1800469 |
| ensembl | rs1800469 |
| geneview | rs1800469 |
| scholar | rs1800469 |
| rs1800469 | |
| pharmgkb | rs1800469 |
| gwascentral | rs1800469 |
| openSNP | rs1800469 |
| 23andMe | rs1800469 |
| SNPshot | rs1800469 |
| SNPdbe | rs1800469 |
| MSV3d | rs1800469 |
| GWAS Ctlg | rs1800469 |
| GMAF | 0.3586 |
| Max Magnitude | 1 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs1800469, also known as -509 C>T, C509T or −1347 C>T, is an SNP in the promoter region of the transforming growth factor beta1 TGFB1 gene. That means it doesn't change the nature of the TGF-β1 protein, but it does change the amount produced. The T version increases the amount of TGF-β1 produced, by preventing AP1 from binding to this region where in the C version it would normally downregulate production. That increased TGF-β1 production with the T version is probably what causes all the health effects of this SNP. [PMID 16896927] Whether increased TGF-β1 is good or bad probably depends on the disease you are interested in.
It 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]
Although based on a relatively small number of patients, a 2018 study concluded that women with breast cancer receiving radiation who carry a rs1800469(T) allele are at ~4x higher risk of radiation-induced fibrosis (scarring) and related poor cosmetic outcomes compared to women who are rs1800469(C;C).[PMID 30027292
]
{{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 19559392] A candidate gene association study of 77 polymorphisms in migraine
[PMID 22053598] Association of TGF-beta1, IL-4 and IL-13 gene polymerphisms with asthma in a Chinese population
[PMID 22282866] The Effects of Functional Polymorphisms in the TGF?1 Gene on Nasopharyngeal Carcinoma Susceptibility
[PMID 22513132] 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
[PMID 22558067] Genes in the ureteric budding pathway: association study on vesico-ureteral reflux patients.
[PMID 15113403] Current limitations of SNP data from the public domain for studies of complex disorders: a test for ten candidate genes for obesity and osteoporosis.
[PMID 15157284] Patterns of linkage disequilibrium and haplotype distribution in disease candidate genes.
[PMID 15726497] Gene-environment interaction effects on the development of immune responses in the 1st year of life.
[PMID 16385446] A testing framework for identifying susceptibility genes in the presence of epistasis.
[PMID 16543493] Association of transforming growth factor-beta1 gene polymorphisms with myocardial infarction in patients with angiographically proven coronary heart disease.
[PMID 16704031] Lack of association between COPD and transforming growth factor-beta1 (TGFB1) genetic polymorphisms in Koreans.
[PMID 16780585] Decorin and TGF-beta1 polymorphisms and development of COPD in a general population.
[PMID 16872485] Three allele combinations associated with multiple sclerosis.
[PMID 17054776] The genetics of chronic obstructive pulmonary disease.
[PMID 17059371] Large-scale population-based study shows no association between common polymorphisms of the TGFB1 gene and BMD in women.
[PMID 17319955] Resequencing of genes for transforming growth factor beta1 (TGFB1) type 1 and 2 receptors (TGFBR1, TGFBR2), and association analysis of variants with diabetic nephropathy.
[PMID 17673695] Transforming growth factor- 1 C-509T polymorphism, oxidant stress, and early-onset childhood asthma.
[PMID 18284942] Large-scale analysis of association between polymorphisms in the transforming growth factor beta 1 gene (TGFB1) and osteoporosis: the GENOMOS study.
[PMID 18292811] Complex two-gene modulation of lung disease severity in children with cystic fibrosis.
[PMID 18366677] Genes implicated in multiple sclerosis pathogenesis from consilience of genotyping and expression profiles in relapse and remission.
[PMID 18424453] Interaction between a novel TGFB1 haplotype and CFTR genotype is associated with improved lung function in cystic fibrosis.
[PMID 18551993] SNP combinations in chromosome-wide genes are associated with bone mineral density in Taiwanese women.
[PMID 18571008] Genetic susceptibility of epidermal growth factor +61A>G and transforming growth factor beta1 -509C>T gene polymorphisms with gallbladder cancer.
[PMID 18670143] The association of transforming growth factor beta 1 gene polymorphisms with the emphysema phenotype of COPD in Japanese.
[PMID 18676870] Variants in inflammation genes and the risk of biliary tract cancers and stones: a population-based study in China.
[PMID 18685869] TGF-beta1 gene polymorphisms and primary vesicoureteral reflux in childhood.
[PMID 18687755] Genetic variants in T helper cell type 1, 2 and 3 pathways and gastric cancer risk in a Polish population.
[PMID 18805939] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.
[PMID 18936436] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
[PMID 19096005] Variants in TGFB1, dust mite exposure, and disease severity in children with asthma.
[PMID 19131662] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.
[PMID 19173720] Low frequency of CD4+CD25+ Treg in SLE patients: a heritable trait associated with CTLA4 and TGFbeta gene variants.
[PMID 19263529] Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.
[PMID 19330901] Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.
[PMID 19356949] Cytokine SNPs: Comparison of allele frequencies by race and implications for future studies.
[PMID 19566948] Polymorphisms of TGFB1 and VEGF genes and survival of patients with gastric cancer.
[PMID 19835575] The VEGF -634G>C promoter polymorphism is associated with risk of gastric cancer.
[PMID 20096948] No association between SNPs regulating TGF-beta1 secretion and late radiotherapy toxicity to the breast: results from the RAPPER study.
[PMID 20233420] Cluster analysis in severe emphysema subjects using phenotype and genotype data: an exploratory investigation.
[PMID 20360039] Components of the transforming growth factor-beta family and the pathogenesis of human Achilles tendon pathology--a genetic association study.
[PMID 20479942] Genetic risk factors in lupus nephritis and IgA nephropathy--no support of an overlap.
[PMID 20565774] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
[PMID 20617153] Detection of fetomaternal genotype associations in early-onset disorders: evaluation of different methods and their application to childhood leukemia.
[PMID 21068203] Genetic variation in the TGF-beta signaling pathway and colon and rectal cancer risk.
[PMID 21320324] The role of IREB2 and transforming growth factor beta-1 genetic variants in COPD: a replication case-control study.
[PMID 21556788] Lack of association between the TGF-beta(1) gene and development of COPD in Asians: a case-control study and meta-analysis.
[PMID 22066665] 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 22135187] Variants in ABCB1, TGFB1, and XRCC1 genes and susceptibility to viral hepatitis A infection in Mexican Americans.
[PMID 22385796] TGFbeta1 SNPs and radio-induced toxicity in prostate cancer patients.
[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 23094028] Genetic association analysis of complex diseases incorporating intermediate phenotype information
[PMID 22931704] The haplotype of the TGFβ1 gene associated with cerebral infarction in Chinese
[PMID 23199655] Individual patient data meta-analysis shows no association between the SNP rs1800469 in TGFB and late radiotherapy toxicity
[PMID 22662243] Meta-analysis of the association between transforming growth factor-beta polymorphisms and complications of coronary heart disease
[PMID 23446766] Transforming Growth Factor Beta 1 is a Novel Susceptibility Gene for Adolescent Idiopathic Scoliosis
[PMID 23298194] Epistatic study reveals two genetic interactions in blood pressure regulation
[PMID 23734748] Association of genes of protease-antiprotease balance pathway to lung function and emphysema subtypes
[PMID 23840350] TGFβ1 Polymorphisms Predict Distant Metastasis-Free Survival in Patients with Inoperable Non-Small-Cell Lung Cancer after Definitive Radiotherapy
| ClinVar | |
|---|---|
| Risk | Rs1800469(C;C) |
| Alt | Rs1800469(C;C) |
| Reference | Rs1800469(T;T) |
| Significance | Non-pathogenic |
| Disease | Diaphyseal dysplasia |
| Variation | info |
| Gene | B9D2 TGFB1 |
| CLNDBN | Diaphyseal dysplasia |
| Reversed | 1 |
| HGVS | NC_000019.10:g.41354391A>G |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000032585.1, |
[PMID 24060592] The TGF-B1 and IL-10 gene polymorphisms are associated with risk of developing silent myocardial ischemia in the diabetic patients
[PMID 24142982] Genes involved in innate immunity associated with asbestos-related fibrotic changes
[PMID 23416372] Genetic variation in TGFB1 gene and risk of idiopathic recurrent pregnancy loss
[PMID 23996684] 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 22724518] 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 23352795] Association of TGF-beta1 -509 C/T, 29 C/T and 788 C/T gene polymorphisms with chronic periodontitis: a case-control study.
| GWAS snp | |
|---|---|
| PMID | [PMID 24836286]
|
| Trait | Colorectal cancer |
| Title | Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. |
| Risk Allele | G |
| P-val | 1E-8 |
| Odds Ratio | 1.09 [1.06-1.12] |
[PMID 25721048] Genetic variants in TNFα, TGFB1, PTGS1 and PTGS2 genes are associated with diisocyanate-induced asthma
[PMID 26198819] Pathogenesis of intracranial aneurysm is mediated by proinflammatory cytokine TNFA and IFNG and through stochastic regulation of IL10 and TGFB1 by comorbid factors
[PMID 26238954] A Preliminary Study on Racial Differences in HMOX1, NFE2L2, and TGFβ1 Gene Polymorphisms and Radiation-Induced Late Normal Tissue Toxicity
[PMID 26544732] Transforming growth factor-β1 polymorphisms and graft-versus-host disease risk: a meta-analysis
[PMID 26579581] Genetic and environmental predictors of chronic kidney disease in patients with type 2 diabetes and diabetic foot ulcer: a pilot study
[PMID 26629166] Single-nucleotide polymorphisms of TGFβ1 and ATM associated with radiation-induced pneumonitis: a prospective cohort study of thoracic cancer patients in China.
[PMID 28802359] Transmission analysis of TGFB1 gene polymorphisms in non-syndromic cleft lip with or without cleft palate.
[PMID 30070177] The role of Transforming growth factor-β1 gene polymorphism and its serum levels in Hashimoto's thyroiditis.
[PMID 28750369] Matrix Metalloproteinase Polymorphisms in Patients with Floppy Mitral Valve/Mitral Valve Prolapse (FMV/MVP) and FMV/MVP Syndrome.
[PMID 29183791] Transforming growth factor beta 1 related gene polymorphisms in gestational hypertension and preeclampsia: A case-control candidate gene association study.
[PMID 30430914] Genetic polymorphism contributes to 131I radiotherapy-induced toxicities in patients with differentiated thyroid cancer.
[PMID 31405342] Transforming growth factor beta 1 polymorphisms and haplotypes associated with breast cancer susceptibility: A case-control study in Tunisian women.
[PMID 32140313] Novel association between TGFA, TGFB1, IRF1, PTGS2 and IKBKB single-nucleotide polymorphisms and occurrence, severity and treatment response of major depressive disorder.
[PMID 32354559] Association of Genetic Polymorphisms of TGF-β1, HMOX1, and APOL1 With CKD in Nigerian Patients With and Without HIV.
[PMID 32757134] Effect of functional variant rs11466313 on breast cancer susceptibility and TGFB1 promoter activity.
[PMID 33274798] TGFB1 polymorphisms and TGF-β1 plasma levels identify gastric adenocarcinoma patients with lower survival rate and disseminated disease.
[PMID 33480235] A link between promoter polymorphisms of the transforming growth factor β1 (TGFB1) and TGF-β1 receptor II (TGFBR2) genes and relapsing-remitting multiple sclerosis.
