Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800469
rs1800469
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.810 GeneticVariation BEFREE In this context, the aim of the study was to explore the role of circulating TGF-β1 and the -509C/T functional promoter polymorphism (rs1800469) within the TGF-β1 gene (TGFB1) in the susceptibility, progression, and prognosis of CRC among Bulgarian male and female patients. 30071009

2018

dbSNP: rs1800469
rs1800469
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.710 GeneticVariation BEFREE Both TGFβ1 rs1800469 and rs4803455 were associated with colon cancer [odds ratio (OR) = 0.65 and 1.43, 95% CI = 0.51-0.84 and 1.18-1.73, respectively) but not rectal cancer. 21068203

2011

dbSNP: rs1800469
rs1800469
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.040 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

dbSNP: rs1800469
rs1800469
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.040 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

dbSNP: rs1800469
rs1800469
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.040 GeneticVariation BEFREE The present study investigated the effects of the TGFB1 promoter region (rs1800468 or G-800A and rs1800469 or C-509T) and signal peptide (rs1800470 or C29T and rs1800471 or G74C) single nucleotide polymorphisms (SNPs) and their haplotype structures on the susceptibility and clinicopathological presentation of BC subtypes. 29362917

2018

dbSNP: rs1800469
rs1800469
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.040 GeneticVariation BEFREE The present study investigated the effects of the TGFB1 promoter region (rs1800468 or G-800A and rs1800469 or C-509T) and signal peptide (rs1800470 or C29T and rs1800471 or G74C) single nucleotide polymorphisms (SNPs) and their haplotype structures on the susceptibility and clinicopathological presentation of BC subtypes. 29362917

2018

dbSNP: rs1800469
rs1800469
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.040 GeneticVariation BEFREE No associations with COPD were identified for other polymorphisms evaluated in the present study including rs1800469 (T allele compared with C allele, OR =0.89, 95% CI: 0.77-1.02, <i>P</i>=0.099), rs2241712 (A allele compared with G allele, OR =1.03, 95% CI: 0.89-1.20, <i>P</i>=0.666), rs6957 (A allele compared with G allele, OR =1.14, 95% CI: 0.95-1.36, <i>P</i>=0.160), and rs2241718 (C allele compared with T allele, OR =0.95, 95% CI: 0.79-1.14, <i>P</i>=0.571). 28784933

2017

dbSNP: rs1800469
rs1800469
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.040 GeneticVariation BEFREE Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (IFNGR2 rs1059293, IL15RA rs2296135, LTA rs1041981), Th2 immunity (IL4R rs1801275), and T regulatory cell-mediated immunosuppression (TGFB1 rs1800469) associated with breast cancer risk, mainly among AAs. 23996684

2014

dbSNP: rs1800469
rs1800469
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.040 GeneticVariation BEFREE Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (IFNGR2 rs1059293, IL15RA rs2296135, LTA rs1041981), Th2 immunity (IL4R rs1801275), and T regulatory cell-mediated immunosuppression (TGFB1 rs1800469) associated with breast cancer risk, mainly among AAs. 23996684

2014

dbSNP: rs1800469
rs1800469
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.040 GeneticVariation BEFREE This meta-analysis has not confirmed previous reports of association between fibrosis or overall toxicity and rs1800469 genotype in breast cancer patients. 23199655

2012

dbSNP: rs1800469
rs1800469
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.040 GeneticVariation BEFREE This meta-analysis has not confirmed previous reports of association between fibrosis or overall toxicity and rs1800469 genotype in breast cancer patients. 23199655

2012

dbSNP: rs1800469
rs1800469
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.040 GeneticVariation BEFREE The SNP rs1800469 is reported to be associated with chronic obstructive pulmonary disease and lung cancer in cigarette smokers. 23094028

2012

dbSNP: rs1800469
rs1800469
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.040 GeneticVariation BEFREE The results showed that there was no significant association between an increased risk of COPD in carriers of the T allele (TT+TC) versus the CC genotype in rs1800469 and rs1982073. 21556788

2011

dbSNP: rs1800469
rs1800469
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.040 GeneticVariation BEFREE Among smokers in the COPD cases and control subjects, two SNPs in the promoter region of TGFB1 (rs2241712 and rs1800469) and one SNP in exon 1 of TGFB1 (rs1982073) were significantly associated with COPD (P</=0.02 in all cases). 15175276

2004

dbSNP: rs1800469
rs1800469
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.020 GeneticVariation BEFREE The TGF-β1 T + 869C (rs1982073) and C-509T (rs1800469</span>) polymorphisms are not implicated in lung cancer susceptibility in the overall population. 31764821

2019

dbSNP: rs1800469
rs1800469
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.020 GeneticVariation BEFREE The TGF-β1 T + 869C (rs1982073) and C-509T (rs1800469</span>) polymorphisms are not implicated in lung cancer susceptibility in the overall population. 31764821

2019

dbSNP: rs1800469
rs1800469
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.020 GeneticVariation BEFREE However, our analysis indicated that the C-509T (rs1800469) polymorphism decreases the risk of lung cancer in patients with NSCLC. 31764821

2019

dbSNP: rs1800469
rs1800469
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.020 GeneticVariation BEFREE The TGF-β1 T + 869C (rs1982073) and C-509T (rs1800469</span>) polymorphisms are not implicated in lung cancer susceptibility in the overall population. 31764821

2019

dbSNP: rs1800469
rs1800469
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.020 GeneticVariation BEFREE In the subset analysis by the type of MI, significantly elevated risk of MI</span> was associated with the homozygote TT and heterozygote C/T in no-AMI subjects, when compared with the CC homozygote carriers (OR = 1.12, 95% CI:1.02-1.23).Our meta-analysis shows that the polymorphism with homozygote TT and heterozygote C/T of TGF-β 509C/T (rs1800469) is significantly associated with the increased risk of MI. 31261499

2019

dbSNP: rs1800469
rs1800469
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
0.020 GeneticVariation BEFREE Here, this paper proposed a meta-analysis to evaluate whether the TGF-ß1 gene polymorphisms, -509C/T (rs1800469), codon 10 T/C (rs1982073) and codon 25G/C (rs1800471), were associated with chronic HCV infection. 31470810

2019

dbSNP: rs1800469
rs1800469
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
0.020 GeneticVariation BEFREE In conclusion, rs1800469 in TGFB1 was associated to hepatic decompensation in chronic hepatitis C, while the other 11 described polymorphisms must be evaluated in a larger cohort to determine the possible role of vitamin D in hepatitis C. 28703134

2017

dbSNP: rs1800469
rs1800469
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.020 GeneticVariation BEFREE We found that the TGFB1 rs1800469 polymorphism may be predictive biomarker for the risk of developing brain metastasis in non-small cell lung cancer patients. 25966122

2015

dbSNP: rs1800469
rs1800469
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.020 GeneticVariation BEFREE Herein, the TGF-β1 C-509 T polymorphism (rs1800469) was genotyped in a case-control study of 840 patients and 845 controls in Chinese population to explore the association between the polymorphism and susceptibility and prognosis of lone AF. 25402477

2014

dbSNP: rs1800469
rs1800469
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.020 GeneticVariation BEFREE After adjustment for age, sex, hypertension and LAD, there was no association between the rs1800469 polymorphism and the risk of AF under the dominant, recessive and additive genetic models. 24349426

2013

dbSNP: rs1800469
rs1800469
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.020 GeneticVariation BEFREE Minor allele carriers of two genetic variants (rs1800469 and rs1982073) in TGFB1 have a 15% increased risk of CHD. 22607024

2012