rs1800472, TGFB1

N. diseases: 11
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Otosclerosis
CUI: C0029899
Disease: Otosclerosis
0.040 GeneticVariation BEFREE Our findings strengthen the association of TGFB1 (rs1800472) with otosclerosis and support a relationship between RELN and familial otosclerosis only, which may explain previous variable replications. 29728750 2018
Otosclerosis
CUI: C0029899
Disease: Otosclerosis
0.040 GeneticVariation BEFREE Our findings strengthen the association of TGFB1 (rs1800472) with otosclerosis. 24643032 2014
Otosclerosis
CUI: C0029899
Disease: Otosclerosis
0.040 GeneticVariation BEFREE The coding polymorphism T263I in TGFB1 was also associated with otosclerosis in the Tunisian population. 21777208 2011
Otosclerosis
CUI: C0029899
Disease: Otosclerosis
0.040 GeneticVariation BEFREE The coding polymorphism T263I in TGF-beta1 is associated with otosclerosis in two independent populations. 17588962 2007
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.020 GeneticVariation BEFREE We investigated whether the -509C/T (rs1800469), 868T/C (rs1982073), 913G/C (rs1800471), and 11929C/T (rs1800472) polymorphisms of TGFB1 are associated with myocardial infarction. 16543493 2006
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.020 GeneticVariation BEFREE We therefore investigated 5 polymorphisms in the TGF-beta1 gene (-800 G/A, -509 C/T, codon 10 Leu/Pro, codon 25 Arg/Pro, and codon 263 Thr/Ile) in relation to the risk of myocardial infarction and stroke in a population-based study. 17023672 2006
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Four-locus (rs1800472-rs1800471-rs1800470-rs1800469) Haploview analysis identified haplotype <u>T</u>G<u>CT</u> to be negatively associated, and haplotypes CGT<u>T</u> and C<u>CC</u>C to be positively associated with BC. 31405342 2019
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.010 GeneticVariation BEFREE Four-locus (rs1800472-rs1800471-rs1800470-rs1800469) Haploview analysis identified haplotype <u>T</u>G<u>CT</u> to be negatively associated, and haplotypes CGT<u>T</u> and C<u>CC</u>C to be positively associated with BC. 31405342 2019
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
0.010 GeneticVariation BEFREE Our findings strengthen the association of TGFB1 (rs1800472) with otosclerosis and support a relationship between RELN and familial otosclerosis only, which may explain previous variable replications. 29728750 2018
Complete atrioventricular block
CUI: C0151517
Disease: Complete atrioventricular block
0.010 GeneticVariation BEFREE We examined whether three putative polymorphisms in TGFβ1[-509 C/T (rs1800469), +869 C/T (rs1800470), and +11929 C/T (rs1800472)]are associated with CHB infection in a South-Eastern Iranian population. 28700046 2017
Chronic Periodontitis
CUI: C0266929
Disease: Chronic Periodontitis
0.010 GeneticVariation BEFREE This study shows that TGF-β1 29 C/T polymorphism, but not -509 C/T and 788 C/T polymorphisms, may contribute to the development of CP in a sample of Iranian population. 23352795 2013
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.010 GeneticVariation BEFREE No significant association was found between rs1800468 and rs1800472 variants and CHD risk. 22607024 2012
Giant Cell Arteritis
CUI: C0039483
Disease: Giant Cell Arteritis
0.010 GeneticVariation BEFREE The genotype and allele distributions of TGF-β1 G-800A, C-988A, G915C and C788T in GCA patients were not significantly different from that in healthy controls (P>0.05). 21205231 2011
Thyroid Nodule
CUI: C0040137
Disease: Thyroid Nodule
0.010 GeneticVariation BEFREE Elevated thyroid nodule risks were associated with the minor alleles of RET S836S (rs1800862, P = 0.03) and GFRA1 -193C>G (rs not assigned, P = 0.05) and decreased risk with XRCC1 R194W (rs1799782, P trend = 0.03) and TGFB1 T263I (rs1800472, P = 0.009). 19138047 2009
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
0.010 GeneticVariation BEFREE We therefore investigated 5 polymorphisms in the TGF-beta1 gene (-800 G/A, -509 C/T, codon 10 Leu/Pro, codon 25 Arg/Pro, and codon 263 Thr/Ile) in relation to the risk of myocardial infarction and stroke in a population-based study. 17023672 2006