rs1800472
This is a variant in the TGFB1 gene that changes a threonine to an isoleucine.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
microtubule-associated protein tau measurement
TGF-beta 1 level
balding measurement
▶ClinVar annotation
▶Research that mentions this SNP (4)
▶TGFB1 and TGFBR1 polymorphic variants in relationship to bladder cancer risk and prognosisAssociationN=2,314Adela Castillejo et al.(2009)· International Journal of Cancer
Case-control study of 1,157 bladder cancer cases and 1,157 controls examining seven genetic polymorphisms in TGFB1 (rs1982073, rs1800472, rs1800471) and TGFBR1 (rs868, rs928180, rs334358, rs11466445). While none of the variants were associated with bladder cancer risk, TGFBR1 rs868 showed a significant association with disease-specific mortality in muscle-invasive tumors with an allele dosage effect (p-trend=0.003), with hazard ratios of 1.85 (95%CI: 1.15-2.97) for heterozygotes and 3.00 (95%CI: 1.15-7.82) for homozygotes.
▶Genetic Polymorphisms in the Transforming Growth Factor-β Signaling Pathways and Breast Cancer Risk and SurvivalReviewWei Zheng et al.(2009)· Methods in Molecular Biology
A literature review summarizing epidemiologic evidence for associations between genetic polymorphisms in TGF-β signaling pathway genes and breast cancer risk and survival. The TGFB1 T+29C polymorphism (rs1982073) is the most studied variant, with meta-analysis showing a summary OR of 0.92 (95% CI=0.81-1.05) for CC genotype versus TT; results across studies were inconsistent. The TGFBR1 9A/6A polymorphism showed evidence of elevated risk with the *6A allele in some studies. For survival, TGFB1 variant C allele carriers showed reduced disease-free survival (HR=1.4, 95% CI=1.0-1.9) in one major study.
▶Common variants in genes that mediate immunity and risk of multiple myelomaAssociationN=672Elizabeth E. Brown et al.(2007)· International Journal of Cancer
A case-control study of 127 multiple myeloma (MM) cases and 545 controls examined 82 common variants in 45 genes mediating immunity. IL4R rs2107356 (−28120T homozygotes, OR=1.91, 95% CI 1.08-3.38) and FCGR2A rs1801274 (−120G homozygotes, OR=1.95, 95% CI 1.06-3.60) were significantly associated with increased MM risk. A haplotype in the LTA*TNF complex (LTA −82C/−90G*TNF −1036C/−487G/−417G, OR=1.63, 95% CI 1.02-2.61) was also associated with increased MM risk compared to controls.
▶Genetic polymorphisms in transforming growth factor beta-1 (TGFB1) and childhood asthma and atopyAssociationN=546Huiling Li et al.(2007)· Human Genetics
A case-parent triad study of 546 asthmatic children and their parents in Mexico City found that three TGFB1 SNPs (C-509T/rs1800469, T869C/rs1982073, and rs7258445) were significantly associated with increased asthma risk and atopy. The C-509T T allele showed RR=1.42 (95% CI 1.08-1.87) for one copy and RR=1.95 (1.36-2.78) for two copies; similar effects were found for T869C and rs7258445. The haplotype containing all three risk alleles conferred RR=1.48 (1.11-1.95) for one copy and RR=1.77 (1.22-2.57) for two copies of asthma risk.
About TGFB1
This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGFB family members. This encoded protein regulates cell proliferation, differentiation and growth, and can modulate expression and activation of other growth factors including interferon gamma and tumor necrosis factor alpha. This gene is frequently upregulated in tumor cells, and mutations in this gene result in Camurati-Engelmann disease. [provided by RefSeq, Aug 2016]
View all TGFB1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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