{{Rsnum
|rsid=1800471
|Gene=TGFB1
|Chromosome=19
|position=41352971
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=C
|GMAF=0.04637
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=TGFB1
}}[[rs1800471]] encodes a change at codon 25 of the [[TGFB1]] gene. It is reported to predispose several organs to fibrosis, and in relation to [[Crohn's disease]], it was associated with stricturing Crohn's disease (odds ratio 2.63, CI: 1.16-5.88, p=0.01) and a shorter time to intestinal resection (p = 0.06) in a study of several hundred Australian patients.{{PMID|17047091|OA=1
}}

{{ neighbor
| rsid = 1982073
| distance = 45
}}

{{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
}}

{{PharmGKB
|RSID=rs1800471
|Name_s=TGFB1:Arg25Pro; TGFB1:914G>C; TGFB1:Ex1-282G>C; TGFB1:G915C; TGFB1:GC915
|Gene_s=TGFB1
|Feature=Exon/NonSyn
|Evidence=PubMed ID:12850397; PubMed ID:15212689; PubMed ID:15569360; PubMed ID:17157217; PubMed ID:17184296; PubMed ID:17700165
|Annotation=In conjunction with polymorphism at codon 10, this SNP defines high-, medium- or low-producer haplotype. The Arg allele is associated with higher blood pressure. The C allele is associated with susceptibility to EBV-associated post-transplant lymphoproliferative disorder. The C allele is associated with susceptibility to chronic periodontitis; The G allele may be associated with brucellosis susceptibility. This SNP may play a role in liver graft acceptance. It may be associated with longevity in an Italian population, and it may be associated with clefts of the lip, alveolus and palate.
|Drugs=
|Drug Classes=
|Diseases=Brucellosis; Cleft Lip; Cleft Palate; Graft vs Host Disease; Hypertension; Periodontitis
|Curation Level=Curated
|PharmGKB Accession ID=PA161145114
}}

{{PMID Auto
|PMID=20571834
|Title=Polymorphisms in TGFB1 and PDGFRB are associated with Moyamoya disease in European patients
}}

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

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

{{PMID Auto
|PMID=19087310
|Title=Microarray-based estimation of SNP allele-frequency in pooled DNA using the Langmuir kinetic model.
|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=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=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=21562768
|Title=A study of the impact of cytokine gene polymorphism in acute rejection of renal transplant recipients.
}}

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

{{PMID Auto
|PMID=22433249
|Title=Genetic polymorphisms located in TGFB1, AGTR1, and VEGFA genes are associated to chronic renal allograft dysfunction.
}}

{{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
|gene=TGFB1
|aa_change=Arg25Pro
|aa_change_short=R25P
|impact=pathogenic
|qualified_impact=Low clinical importance, Uncertain pathogenic
|inheritance=other
|quality_scores=Array
|dbsnp_id=rs1800471
|overall_frequency_n=487
|overall_frequency_d=9962
|overall_frequency=0.0488858
|n_genomes=2
|n_genomes_annotated=0
|n_haplomes=2
|n_articles=4
|n_articles_annotated=4
|qualityscore_case_control=3
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualitycomment_familial=Y
|qualityscore_severity=2
|qualitycomment_severity=Y
|qualityscore_treatability=0
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|in_pharmgkb=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=5
|autoscore=5
|webscore=N
|n_web_uneval=10
|variant_evidence=0
|clinical_importance=0
|summary_short=This variant in a growth factor gene is associated with variation in TGFB1 levels; this has been associated with various pathogenic and some protective effects, including: more hepatic fibrosis progression in hep C patients, lower risk of cleft palate, anticorrelation with longevity, higher risk of myocardial infarction and lower risk of hypertension.
}}

{{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=23840350
|Title=TGFβ1 Polymorphisms Predict Distant Metastasis-Free Survival in Patients with Inoperable Non-Small-Cell Lung Cancer after Definitive Radiotherapy
|OA=1
}}

{{PMID Auto
|PMID=23941979
|Title=Association of Genetic Polymorphisms With Histological Grading of Necroinflammation, Staging of Fibrosis, and Liver Function in Mexicans With Chronic Hepatitis C Virus Infection
}}

{{ClinVar
|ALT=G
|CAF=0.9536; 0.04637
|CHROM=19
|CLNACC=RCV000032152.1
|CLNALLE=1
|CLNDBN=Diaphyseal dysplasia
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1156:C0011989:131300:1328:34643004
|CLNHGVS=NC_000019.9:g.41858876C>G
|CLNSIG=2
|CLNSRC=GeneReviews
|CLNSRCID=NBK1156
|COMMON=1
|Disease=Diaphyseal dysplasia
|FwdALT=C
|FwdREF=G
|GENEINFO=TGFB1:7040
|GENE_ID=7040
|GENE_NAME=TGFB1
|REF=C
|RSPOS=41858876
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;TPA;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD
|VC=SNV
|VP=0x050178000000150516100100
|WGT=0
|dbSNPBuildID=89
|rsid=1800471
}}

{{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=23416372
|Title=Genetic variation in TGFB1 gene and risk of idiopathic recurrent pregnancy loss
}}

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

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

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}