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rs1800469

From SNPedia

Orientationminus
Stabilizedminus
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
ReferenceGRCh38 38.1/142
Chromosome19
Position41354391
GeneB9D2, TGFB1
is asnp
is mentioned by
dbSNPrs1800469
dbSNP (classic)rs1800469
ClinGenrs1800469
ebirs1800469
HLIrs1800469
Exacrs1800469
Gnomadrs1800469
Varsomers1800469
LitVarrs1800469
Maprs1800469
PheGenIrs1800469
Biobankrs1800469
1000 genomesrs1800469
hgdprs1800469
ensemblrs1800469
geneviewrs1800469
scholarrs1800469
googlers1800469
pharmgkbrs1800469
gwascentralrs1800469
openSNPrs1800469
23andMers1800469
SNPshotrs1800469
SNPdbers1800469
MSV3drs1800469
GWAS Ctlgrs1800469
GMAF0.3586
Max Magnitude1
? (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 30027292OA-icon.png]

{{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 19380441OA-icon.png] 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

OMIM190180
DescTRANSFORMING GROWTH FACTOR, BETA-1; TGFB1
Variant
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OMIM219700
Desc
Variant
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[PMID 16704031] Lack of association between COPD and transforming growth factor-beta1 (TGFB1) genetic polymorphisms in Koreans.


[PMID 16780585OA-icon.png] Decorin and TGF-beta1 polymorphisms and development of COPD in a general population.


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[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.


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[PMID 20096948OA-icon.png] No association between SNPs regulating TGF-beta1 secretion and late radiotherapy toxicity to the breast: results from the RAPPER study.


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[PMID 21320324OA-icon.png] The role of IREB2 and transforming growth factor beta-1 genetic variants in COPD: a replication case-control study.


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[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


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[PMID 22931704] The haplotype of the TGFβ1 gene associated with cerebral infarction in Chinese


[PMID 23199655OA-icon.png] Individual patient data meta-analysis shows no association between the SNP rs1800469 in TGFB and late radiotherapy toxicity


[PMID 22662243OA-icon.png] Meta-analysis of the association between transforming growth factor-beta polymorphisms and complications of coronary heart disease


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[PMID 23298194OA-icon.png] Epistatic study reveals two genetic interactions in blood pressure regulation


[PMID 23734748OA-icon.png] Association of genes of protease-antiprotease balance pathway to lung function and emphysema subtypes


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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,



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[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 24836286OA-icon.png]
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]


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[PMID 33274798OA-icon.png] 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.