Gene:
TGFB1
transforming growth factor, beta 1

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.

PharmGKB has no annotated drug labels with pharmacogenomic information for this . If you know of a drug label with PGx, send us a message.

PharmGKB contains no Clinical Variants that meet the highest level of criteria.

To see more Clinical Variants with lower levels of criteria, click the button at the bottom of the table.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

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This is a non-comprehensive list of genetic tests with pharmacogenetics relevance, typically submitted by the manufacturer and manually curated by PharmGKB. The information listed is provided for educational purposes only and does not constitute an endorsement of any listed test or manufacturer.

A more complete listing of genetic tests is found at the Genetic Testing Registry (GTR).

PGx Test Variants Assayed Related Drugs?

The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page on the appropriate tab.

Links in the "Drugs" column lead to PharmGKB Drug Pages.

Variant?
(138)
Alternate Names / Tag SNPs ? Drugs ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available No Clinical Annotations available VA
rs1800469 *309T>C, -1347T>C, 1347 C>T, 14128514A>G, 14783T>C, 41860296A>G, 4536T>C, 509 C>T, TGFB1:
A > G
3' Flanking
No VIP available No Clinical Annotations available VA
rs1800470 14127139G>A, 16158C>T, 29C>T, 41858921G>A, 5911C>T, Pro10Leu, TGFB1:Ex1-327T>C, TGFB1:Leu10Pro, TGFB1:T29C, TGFB1:T869C
G > A
Missense
Pro10Leu
No VIP available CA VA
rs1800471 14127094C>G, 16203G>C, 41858876C>G, 5956G>C, 74G>C, Arg25Pro, TGFB1:914G>C, TGFB1:Arg25Pro, TGFB1:Ex1-282G>C, TGFB1:G915C, TGFB1:GC915
C > G
Missense
Arg25Pro
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 138

Overview

Alternate Names:  Camurati-Engelmann disease; DPD1; TGFB; prepro-transforming growth factor beta-1
Alternate Symbols:  CED; TGFbeta
PharmGKB Accession Id: PA350

Details

Cytogenetic Location: chr19 : q13.2 - q13.2
GP mRNA Boundary: chr19 : 41836812 - 41859831
GP Gene Boundary: chr19 : 41833812 - 41869831
Strand: minus
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

  1. ACE Inhibitor Pathway, Pharmacodynamics
    Model, non-tissue-specific cell displaying genes which may be involved in the ACE inhibitor pathway
  1. Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics
    Genes involved in the pharmacodynamics of the drugs that act on the renin-angiotensin-aldosterone system.
  1. Tacrolimus/Cyclosporine Pathway, Pharmacodynamics
    Stylized cell depicting the mechanism of action of tacrolimus and cyclosporine, as well as the candidate genes believed to interact with the two drugs.

External Pathways

Links to non-PharmGKB pathways.

  1. cell cycle: g1/s check point - (BioCarta via Pathway Interaction Database)
  2. IL12 signaling mediated by STAT4 - (Pathway Interaction Database NCI-Nature Curated)
  3. IL27-mediated signaling events - (Pathway Interaction Database NCI-Nature Curated)
  4. Influenza Virus Induced Apoptosis - (Reactome via Pathway Interaction Database)
  5. Regulation of Telomerase - (Pathway Interaction Database NCI-Nature Curated)
  6. RXR and RAR heterodimerization with other nuclear receptor - (Pathway Interaction Database NCI-Nature Curated)
  7. Signaling by TGF beta - (Reactome via Pathway Interaction Database)
  8. Signaling by TGF beta - (Reactome via Pathway Interaction Database)
  9. Syndecan-1-mediated signaling events - (Pathway Interaction Database NCI-Nature Curated)
  10. Syndecan-2-mediated signaling events - (Pathway Interaction Database NCI-Nature Curated)

Curated Information ?

Evidence Gene
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available PW
MAPK1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available PW
MAPK3

Curated Information ?

Curated Information ?

Publications related to TGFB1: 14

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pharmacogenetics of disease-modifying antirheumatic drugs in rheumatoid arthritis: towards personalized medicine. Pharmacogenomics. 2013. Umićević Mirkov Maša, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
TGF beta1 polymorphisms are candidate predictors of the clinical response to rituximab in rheumatoid arthritis. Joint, bone, spine : revue du rhumatisme. 2012. Daïen Claire Immediato, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Allelic combinations of immune-response genes associated with glatiramer acetate treatment response in Russian multiple sclerosis patients. Pharmacogenomics. 2012. Tsareva Ekaterina Y, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pharmacokinetics of oltipraz and its major metabolite (RM) in patients with liver fibrosis or cirrhosis: relationship with suppression of circulating TGF-beta1. Clinical pharmacology and therapeutics. 2010. Kim S G, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
A large-scale candidate gene approach identifies SNPs in SOD2 and IL13 as predictive markers of response to preoperative chemoradiation in rectal cancer. The pharmacogenomics journal. 2010. Ho-Pun-Cheung A, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Functional polymorphisms and methotrexate treatment outcome in recent-onset rheumatoid arthritis. Pharmacogenomics. 2010. Kooloos Wouter M, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Combined analysis of EGF+61G>A and TGFB1+869T>C functional polymorphisms in the time to androgen independence and prostate cancer susceptibility. The pharmacogenomics journal. 2009. Teixeira A L, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Association between a TGFbeta1 promoter polymorphism and the phenotype of aspirin-intolerant chronic urticaria in a Korean population. Journal of clinical pharmacy and therapeutics. 2008. Park H-J, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Association of four DNA polymorphisms with acute rejection after kidney transplantation. Transplant international : official journal of the European Society for Organ Transplantation. 2008. Grinyó Josep, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Angiotensin II blockade and aortic-root dilation in Marfan's syndrome. The New England journal of medicine. 2008. Brooke Benjamin S, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
A common coding variant in CASP8 is associated with breast cancer risk. Nature genetics. 2007. Cox Angela, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Transforming growth factor-beta1 promoter polymorphism C-509T is associated with asthma. American journal of respiratory and critical care medicine. 2004. Silverman Eric S, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Classification, subtype discovery, and prediction of outcome in pediatric acute lymphoblastic leukemia by gene expression profiling. Cancer cell. 2002. Yeoh Eng-Juh, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
The effect of cytokine gene polymorphisms on pediatric heart allograft outcome. The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation. 2001. Awad M R, et al. PubMed

LinkOuts

Entrez Gene:
7040
OMIM:
131300
190180
219700
UCSC Genome Browser:
NM_000660
RefSeq RNA:
NM_000660
RefSeq Protein:
NP_000651
RefSeq DNA:
AC_000062
AC_000151
NC_000019
NG_013364
NT_011109
NW_001838496
NW_927217
UniProtKB:
TGFB1_HUMAN (P01137)
Ensembl:
ENSG00000105329
GenAtlas:
TGFB1
GeneCard:
TGFB1
MutDB:
TGFB1
ALFRED:
LO000314I
HuGE:
TGFB1
Comparative Toxicogenomics Database:
7040
ModBase:
P01137
HumanCyc Gene:
HS02714
HGNC:
11766

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