Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800470
rs1800470
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.020 GeneticVariation BEFREE <i>TGFB1</i> rs1800472 was positively, while rs1800470 was negatively associated with triple negativity, while rs1800470 positively correlated with menarche, but negatively with tumor size and molecular type, and rs1800469 correlated positively with menstrual irregularity, distant metastasis, nodal status, and hormonotherapy. 31405342

2019

dbSNP: rs1800470
rs1800470
CUI: C0038358
Disease: Gastric ulcer
Gastric ulcer
0.010 GeneticVariation BEFREE Leu10Pro substitution in the signal peptide of TGF-beta1 has been found to be associated with susceptibility to gastric ulcer (odds ratio [OR] 1.76, 95% confidence interval [CI] 1.12-2.77). 17376051

2007

dbSNP: rs1800470
rs1800470
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE c.29C>T and c.74G>C polymorphisms in the TGF-β1 gene significantly affect breast cancer risk, which correlates with elevated TGF-β1 level in the patients. 24146803

2013

dbSNP: rs1800470
rs1800470
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE c.29C>T and c.74G>C polymorphisms in the TGF-β1 gene significantly affect breast cancer risk, which correlates with elevated TGF-β1 level in the patients. 24146803

2013

dbSNP: rs1800470
rs1800470
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE A T29C transition polymorphism in the TGFB1 gene has been associated with higher circulating TGF-beta1 levels, and inconsistently with breast cancer risk in three recent studies. 15006917

2004

dbSNP: rs1800470
rs1800470
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE A T29C transition polymorphism in the TGFB1 gene has been associated with higher circulating TGF-beta1 levels, and inconsistently with breast cancer risk in three recent studies. 15006917

2004

dbSNP: rs1800470
rs1800470
CUI: C0004096
Disease: Asthma
Asthma
0.010 GeneticVariation BEFREE A promoter polymorphism of the TGFbeta1 gene, TGFbeta1-509C>T, and a coding polymorphism (L10P), were genotyped in 203 patients with AIA, 324 patients with aspirin-tolerant asthma (ATA), and 456 normal controls (NC). 16916603

2007

dbSNP: rs1800470
rs1800470
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.010 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: rs1800470
rs1800470
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.020 GeneticVariation BEFREE Association of TGFB1 29C/T and IL6 -572G/C polymorphisms with developmental hip dysplasia: a case-control study in adults with severe osteoarthritis. 25603974

2015

dbSNP: rs1800470
rs1800470
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia
0.010 GeneticVariation BEFREE Concerning TGFB1, although its polymorphisms are not related to AA susceptibility, P10L T allele (recessive model, OR = 0.18, p = .038) and CT haplotype (dominant model, OR = 5.68, p = .038) were associated with response to IST. 20953611

2011

dbSNP: rs1800470
rs1800470
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Conclusively, this meta-analysis strongly suggests that TGFB1 L10P polymorphism may play a low penetrance role in breast cancer susceptibility in Caucasian. 20349130

2010

dbSNP: rs1800470
rs1800470
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE Conclusively, this meta-analysis strongly suggests that TGFB1 L10P polymorphism may play a low penetrance role in breast cancer susceptibility in Caucasian. 20349130

2010

dbSNP: rs1800470
rs1800470
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Consecutive patients (n = 660) with breast cancer from the Memorial Sloan-Kettering Cancer Center (New York, NY) and healthy females (n = 880) from New York City were genotyped for the hypomorphic TGFBR1*6A allele and for the TGFB1 T29C variant that results in increased TGF-beta circulating levels. 15833881

2005

dbSNP: rs1800470
rs1800470
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE Consecutive patients (n = 660) with breast cancer from the Memorial Sloan-Kettering Cancer Center (New York, NY) and healthy females (n = 880) from New York City were genotyped for the hypomorphic TGFBR1*6A allele and for the TGFB1 T29C variant that results in increased TGF-beta circulating levels. 15833881

2005

dbSNP: rs1800470
rs1800470
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 GeneticVariation BEFREE Conversely, low TGFβ1 production variants (C29T SNP and GCTG haplotype) were protective against HER2<sup>+</sup> tumors and correlated negatively with prognostic parameters in HER2<sup>+</sup> and TN BCs, while indicating higher proliferation rates in ER/PR<sup>+</sup>HER2<sup>-</sup> tumors. 29362917

2018

dbSNP: rs1800470
rs1800470
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE Conversely, low TGFβ1 production variants (C29T SNP and GCTG haplotype) were protective against HER2<sup>+</sup> tumors and correlated negatively with prognostic parameters in HER2<sup>+</sup> and TN BCs, while indicating higher proliferation rates in ER/PR<sup>+</sup>HER2<sup>-</sup> tumors. 29362917

2018

dbSNP: rs1800470
rs1800470
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Conversely, low TGFβ1 production variants (C29T SNP and GCTG haplotype) were protective against HER2<sup>+</sup> tumors and correlated negatively with prognostic parameters in HER2<sup>+</sup> and TN BCs, while indicating higher proliferation rates in ER/PR<sup>+</sup>HER2<sup>-</sup> tumors. 29362917

2018

dbSNP: rs1800470
rs1800470
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
Congenital Dysplasia Of The Hip
0.020 GeneticVariation BEFREE Data suggest association between TGFB1 29 T → C transition (rs1800470) and IL6 -572G → C transversion (rs1800796) with DDH, and also a possibility of TGF-beta1 and IL-6 interaction in DDH pathogenesis. 25603974

2015

dbSNP: rs1800470
rs1800470
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 GeneticVariation BEFREE DNA was extracted from tumor samples, and TGF-β1 29T>C genetic polymorphism was investigated using the polymerase chain reaction-restriction fragment length polymorphism method, after which genotype was correlated with clinicopathological factors. 20506050

2010

dbSNP: rs1800470
rs1800470
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Findings of the present study supports that the Pro10Leu, rs1982073, or rs1800470 SNP in <i>TGF-β1</i> is found to be expressed significantly more in GBM patients as it was found in breast cancer. 31160907

2019

dbSNP: rs1800470
rs1800470
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE Findings of the present study supports that the Pro10Leu, rs1982073, or rs1800470 SNP in <i>TGF-β1</i> is found to be expressed significantly more in GBM patients as it was found in breast cancer. 31160907

2019

dbSNP: rs1800470
rs1800470
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE For five SNPs--CASP8 D302H, IGFBP3 -202 c>a, PGR V660L, SOD2 V16A, and TGFB1 L10P--the associations with breast cancer were of borderline statistical significance (P = .016, .060, .047, .056, and .0088 respectively). 17018785

2006

dbSNP: rs1800470
rs1800470
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE For five SNPs--CASP8 D302H, IGFBP3 -202 c>a, PGR V660L, SOD2 V16A, and TGFB1 L10P--the associations with breast cancer were of borderline statistical significance (P = .016, .060, .047, .056, and .0088 respectively). 17018785

2006

dbSNP: rs1800470
rs1800470
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis
0.010 GeneticVariation BEFREE Four common SNPs (rs3737002, rs2296160, rs1800470, and rs35705950) were observed to be statistically associated with increased risk of IPF. 29920840

2018

dbSNP: rs1800470
rs1800470
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 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