Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: C0027051
Disease: Myocardial Infarction
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

dbSNP: rs1800469
rs1800469
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.010 GeneticVariation BEFREE We used a family-based approach to test for association between lung function and two functional SNPs (rs1800469, '-509' and rs1982073, 'codon 10') in the 5' region of transforming growth factor-beta1 (TGFB1), a putative CF modifier gene. 18424453

2008

dbSNP: rs1800469
rs1800469
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma
0.010 GeneticVariation BEFREE The aim of our present study was to determine the association of EGF+61A>G (rs4444903) and TGFB1-509C>T (rs1800469) gene polymorphism with susceptibility to gallbladder cancer (GBC). 18571008

2008

dbSNP: rs1800469
rs1800469
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8
0.010 GeneticVariation BEFREE The aim of our present study was to determine the association of EGF+61A>G (rs4444903) and TGFB1-509C>T (rs1800469) gene polymorphism with susceptibility to gallbladder cancer (GBC). 18571008

2008

dbSNP: rs1800469
rs1800469
CUI: C0153452
Disease: Malignant neoplasm of gallbladder
Malignant neoplasm of gallbladder
0.010 GeneticVariation BEFREE The aim of our present study was to determine the association of EGF+61A>G (rs4444903) and TGFB1-509C>T (rs1800469) gene polymorphism with susceptibility to gallbladder cancer (GBC). 18571008

2008

dbSNP: rs1800469
rs1800469
Stage IIB Gallbladder Cancer AJCC v8
0.010 GeneticVariation BEFREE The aim of our present study was to determine the association of EGF+61A>G (rs4444903) and TGFB1-509C>T (rs1800469) gene polymorphism with susceptibility to gallbladder cancer (GBC). 18571008

2008

dbSNP: rs1800469
rs1800469
Stage IIA Gallbladder Cancer AJCC v8
0.010 GeneticVariation BEFREE The aim of our present study was to determine the association of EGF+61A>G (rs4444903) and TGFB1-509C>T (rs1800469) gene polymorphism with susceptibility to gallbladder cancer (GBC). 18571008

2008

dbSNP: rs1800469
rs1800469
Stage III Gallbladder Cancer AJCC v8
0.010 GeneticVariation BEFREE The aim of our present study was to determine the association of EGF+61A>G (rs4444903) and TGFB1-509C>T (rs1800469) gene polymorphism with susceptibility to gallbladder cancer (GBC). 18571008

2008

dbSNP: rs1800469
rs1800469
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 Gallbladder Cancer AJCC v8
0.010 GeneticVariation BEFREE The aim of our present study was to determine the association of EGF+61A>G (rs4444903) and TGFB1-509C>T (rs1800469) gene polymorphism with susceptibility to gallbladder cancer (GBC). 18571008

2008

dbSNP: rs1800469
rs1800469
CUI: C0042075
Disease: Urologic Diseases
Urologic Diseases
0.010 GeneticVariation BEFREE Previous reports have shown that the TT genotype of the rs1800469 polymorphism is a risk factor for renal scarring in primary VUR, and the results of our study suggest that this same polymorphism is associated with susceptibility to this congenital uropathy. 18685869

2008

dbSNP: rs1800469
rs1800469
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux
0.010 GeneticVariation BEFREE The aim of this study was to assess the association between the transforming growth factor-beta1 (TGF-beta1) gene polymorphisms rs1800469 (commonly known as T-509C) and rs1982073 (commonly known as Leu (10)-->Pro) and primary vesicoureteral reflux (VUR) and renal scarring. 18685869

2008

dbSNP: rs1800469
rs1800469
CUI: C4551858
Disease: Vesicoureteral Reflux 1
Vesicoureteral Reflux 1
0.010 GeneticVariation BEFREE Previous reports have shown that the TT genotype of the rs1800469 polymorphism is a risk factor for renal scarring in primary VUR, and the results of our study suggest that this same polymorphism is associated with susceptibility to this congenital uropathy. 18685869

2008

dbSNP: rs1800469
rs1800469
CUI: C0338480
Disease: Common Migraine
Common Migraine
0.010 GeneticVariation BEFREE Among active migraine with aura, the odds ratios (95% confidence intervals) were 1.35 (1.0 to 1.81) for TNF rs1800750, 1.13 (1.02 to 1.26) for TNF rs1800629, and 1.22 (1.07 to 1.40) for CCR2 rs1799864; among active migraine without aura, 0.9 (0.84 to 0.97) for TGFB1 rs1800469, 1.13 (1.01 to 1.27) for NOS3 rs3918226, and 1.12 (1.02 to 1.24) for IL9 rs2069885. 19559392

2009

dbSNP: rs1800469
rs1800469
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
0.010 GeneticVariation BEFREE Regarding any history of migraine, the multivariable-adjusted odds ratios (95% confidence intervals) for TNF rs673 were 0.52 (0.30 to 0.89), for TGFB1 rs1800469 0.93 (0.89 to 0.98), and for CCR2 rs1799864 1.12 (1.03 to 1.21). 19559392

2009

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: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma
0.010 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: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 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: 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: C0004096
Disease: Asthma
Asthma
0.010 GeneticVariation BEFREE In the present study, we confirmed the association of rs1800469 in TGF-beta1 and rs20541 in IL-13 with asthma and found a trend toward association between rs2241712 in TGF-beta1 and rs2070874 in IL-4 with asthma among atopic subjects, suggesting TGF-beta1, IL-4 and IL-13 may be associated with the susceptibility and development of asthma in this Chinese population. 22053598

2011

dbSNP: rs1800469
rs1800469
CUI: C0019159
Disease: Hepatitis A
Hepatitis A
0.010 GeneticVariation BEFREE In contrast, among Mexican Americans, variants in two genes were found to be associated with an increased risk of HAV infection: TGFB1 rs1800469 (adjusted odds ratio [OR], 1.38; 95% confidence interval [CI], 1.14-1.68; P value adjusted for false discovery rate [FDR-P] = 0.017) and XRCC1 rs1799782 (OR, 1.57; 95% CI, 1.27-1.94; FDR-P = 0.0007). 22135187

2012

dbSNP: rs1800469
rs1800469
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.010 GeneticVariation BEFREE PCR-based assays were used to determine the genotypes of TGFB1 SNPs including TGFB1-509 C/T (rs1800469, in the promoter region), +868 T/C (rs1800470, in exon 1) and +913 G/C (rs1800471, in exon 1) in 414 subjects with established RA. 22513132

2012

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

dbSNP: rs1800469
rs1800469
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.020 GeneticVariation BEFREE Applying a dominant model of inheritance, three TGF-β1 SNPs were significantly associated with CHD complications: The T alleles of rs1800469 (OR = 1.125, 95% CI 1.016-1.247, p = 0.031) and rs1800470 (OR = 1.146, 95% CI 1.026-1.279, p = 0.021); and the C allele of rs1800471 (OR = 1.207, 95% CI 1.037-1.406, p = 0.021). 22662243

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