Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800470
rs1800470
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE Our analysis suggested that 29T/C</span> has no association with a trend of breast cancer</span> risk when using both dominant [odds ratio (OR) = 1.01, 95% confidence intervals (CI) 0.96-1.07] and recessive models (OR = 0.98, 95% CI 0.89-1.08) to analyze the data. 20845106

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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE TGFB1 L10P polymorphism is associated with breast cancer susceptibility: evidence from a meta-analysis involving 47,817 subjects. 20143152

2010

dbSNP: rs1800470
rs1800470
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE These results do not support the hypothesis that TGFB1 L10P genotypes modify the risk of breast cancer in BRCA1 or BRCA2 mutation carriers. 18523885

2009

dbSNP: rs1800470
rs1800470
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE These results do not support the hypothesis that TGFB1 L10P genotypes modify the risk of breast cancer in BRCA1 or BRCA2 mutation carriers. 18523885

2009

dbSNP: rs1800470
rs1800470
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE The purposes of this study were to analyse the genotype of TGF-beta1 at T29C and TGF-beta1 phenotype in breast tumours, and to evaluate their associations with IGFs and clinical characteristics of breast cancer. 18827819

2008

dbSNP: rs1800470
rs1800470
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE The purposes of this study were to analyse the genotype of TGF-beta1 at T29C and TGF-beta1 phenotype in breast tumours, and to evaluate their associations with IGFs and clinical characteristics of breast cancer. 18827819

2008

dbSNP: rs1800470
rs1800470
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE Our data suggest that the TGF-beta1 Leu10Pro polymorphism might play a role in breast cancer risk. 17035001

2007

dbSNP: rs1800470
rs1800470
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Our data suggest that the TGF-beta1 Leu10Pro polymorphism might play a role in breast cancer risk. 17035001

2007

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: 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 To evaluate the potential influences of TGF-beta1 T29C and TNF-beta A252G gene polymorphisms on breast cancer risk, a case-control study was conducted in Korea. 15803361

2005

dbSNP: rs1800470
rs1800470
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE To evaluate the potential influences of TGF-beta1 T29C and TNF-beta A252G gene polymorphisms on breast cancer risk, a case-control study was conducted in Korea. 15803361

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: 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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE We conclude that the TGFB1 L10P polymorphism is not associated with breast cancer risk. 14607332

2003

dbSNP: rs1800470
rs1800470
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE We conclude that the TGFB1 L10P polymorphism is not associated with breast cancer risk. 14607332

2003

dbSNP: rs1800470
rs1800470
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.050 GeneticVariation BEFREE In this study, we investigated the association between osteoporosis and interleukin 10 (IL-10) -597 C > A and transforming growth factor β1 (TGF-β1) T869C (also named Leu10 > Pro) polymorphisms in Turkish postmenopausal women. 23583365

2013

dbSNP: rs1800470
rs1800470
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.050 GeneticVariation BEFREE TGF-beta1 is commonly associated with a single base change resulting in a Leu(10)-->Pro (T(869)-->C) polymorphism and is a genetic marker for susceptibility to osteoporosis. 12706579

2003

dbSNP: rs1800470
rs1800470
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.050 GeneticVariation BEFREE Transforming growth factor-beta1 is an important local regulator of bone metabolism, acting downstream of estrogen and cooperatively with vitamin D. The possible association of a C 509-->T polymorphism in the promoter region of the transforming growth factor-beta1 gene, alone or in combination with a T869-->C (Leu10-->Pro) polymorphism, with bone mineral density and genetic susceptibility to osteoporosis was investigated in 625 postmenopausal Japanese women. 11357939

2001

dbSNP: rs1800470
rs1800470
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.050 GeneticVariation BEFREE We have shown that a T869-->C polymorphism of the transforming growth factor-beta1 gene, which results in a Leu-->Pro substitution at amino acid 10, is associated with bone mineral density in Japanese adolescents and postmenopausal women, with genetic susceptibility to both osteoporosis and vertebral fracture, and with the outcome of treatment for osteoporosis with active vitamin D. We have also shown that a C-509-->T polymorphism in the promoter region of this gene is associated with both bone mineral density and the prevalence of osteoporosis in postmenopausal women. 11740340

2001

dbSNP: rs1800470
rs1800470
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.050 GeneticVariation BEFREE We have shown that a T(869)-->C polymorphism of the transforming growth factor-beta1 (TGF-beta1) gene, which results in a Leu-->Pro substitution at amino acid 10, is associated with bone mineral density in Japanese adolescents and postmenopausal women, with genetic susceptibility to osteoporosis or spinal osteoarthritis, and with the outcome of treatment for osteoporosis with active vitamin D. I here review our recent studies, which have provided insight into the function of TGF-beta1 as well as into the role of genetic factors in the development of osteoporosis and osteoarthritis. 10996011

2000

dbSNP: rs1800470
rs1800470
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.030 GeneticVariation BEFREE The FPRP test results were as follows: 1) when the prior probability was 0.001 and the OR was 1.5, ADAM33 rs612709, CHRNA3/5 rs1051730, CHRNA3/5 rs8034191, CHRNA3/5 rs16969968, and TGFB1 rs1800470 were truly associated with COPD risk (FPRP < 0.2); 2) when the prior probability was 0.000001 and the OR was 1.5, all the variants except TGFB1 rs1800470 remained noteworthy; and 3) when the probability was 0.000001 and the OR was 1.2, ADAM33 rs612709 and CHRNA3/5 rs1051730 remained true positives. 27323020

2016