Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.020 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: C0949690
Disease: Spondylarthritis
Spondylarthritis
0.010 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: C2350242
Disease: Osteoarthritis, Spine
Osteoarthritis, Spine
0.010 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: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
0.010 GeneticVariation BEFREE To determine whether genetic factors are involved in the development of renal dysfunction due to cyclosporine nephrotoxicity, we analyzed 2 polymorphisms in the signal sequence of the transforming growth factor (TGF)-beta 1 gene; codon 10 (Leu(10) --> Pro) and codon 25 (Arg(25) --> Pro). 11008076

2000

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: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia
0.010 GeneticVariation BEFREE The Leu(10)-->Pro (codon 10) polymorphism in the TGF-beta1 gene is associated with end-stage heart failure caused by dilated CMP and not with IHD. 11557193

2001

dbSNP: rs1800470
rs1800470
CUI: C1868938
Disease: End stage cardiac failure
End stage cardiac failure
0.010 GeneticVariation BEFREE The Leu(10)-->Pro (codon 10) polymorphism in the TGF-beta1 gene is associated with end-stage heart failure caused by dilated CMP and not with IHD. 11557193

2001

dbSNP: rs1800470
rs1800470
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.010 GeneticVariation BEFREE The Leu(10)-->Pro (codon 10) polymorphism in the TGF-beta1 gene is associated with end-stage heart failure caused by dilated CMP and not with IHD. 11557193

2001

dbSNP: rs1800470
rs1800470
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
0.010 GeneticVariation BEFREE Our results suggest that TGF-beta1 T29C polymorphism is not associated with the progression of diabetic nephropathy. 11576951

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
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS
0.010 GeneticVariation BEFREE The frequencies of genotype combinations of the -800G/A, -509C/T, L10P, and R25P TGF-beta(1) polymorphisms were significantly different between the PDR and non-PDR groups (chi(2) = 37.83, df = 20, P < 10(-2)). 11992481

2002

dbSNP: rs1800470
rs1800470
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.010 GeneticVariation BEFREE These results are different from a previous study in which the frequency of the T/T allele was high in SSc at T869C (Leu10Pro). 12207584

2002

dbSNP: rs1800470
rs1800470
Polycystic Kidney, Autosomal Dominant
0.010 GeneticVariation BEFREE Our results suggest that the polymorphism at Arg25Pro of TGF-beta1 in the Korean population has an allele distribution different from that ofthe Western population and that the polymorphism at Leu10Pro of TGF-beta1 has no association with the renal progression in Korean ADPKD patients. 12572925

2003

dbSNP: rs1800470
rs1800470
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.020 GeneticVariation BEFREE In humans, a T-->C transition at nucleotide 29 in the region encoding the signal peptide sequence of the transforming growth factor (TGF)-beta(1), which results in a Leu-->Pro substitution at codon 10, has been associated with myocardial infarction. 12649573

2003

dbSNP: rs1800470
rs1800470
CUI: C0028754
Disease: Obesity
Obesity
0.010 GeneticVariation BEFREE In the present study, we genotyped 284 unrelated, nondiabetic Swedish men born in 1944 to assess the impact of the Leu10Pro variant on obesity, including abdominal obesity, and estimates of insulin, glucose and lipid metabolism as well as blood pressure. 12649573

2003

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: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.020 GeneticVariation BEFREE Haplotype analysis revealed that the possession of [-509C > T; L10P] conferred a decreased likelihood of HCC (OR = 0.74; 95% CI, 0.59-0.93; P = 0.008). 12858019

2003

dbSNP: rs1800470
rs1800470
CUI: C0019163
Disease: Hepatitis B
Hepatitis B
0.010 GeneticVariation BEFREE In conclusion, the presence of the TGF-beta1 -509C > T promoter or of the L10P polymorphism, and the combination of both [-509C > T; L10P] as a haplotype were strongly associated with a reduced risk of HCC in patients with chronic HBV infection. 12858019

2003

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: C0398650
Disease: Immune thrombocytopenic purpura
Immune thrombocytopenic purpura
0.010 GeneticVariation BEFREE These results demonstrate that the frequency of TGF-beta1 gene 509 (C-->T), codon 25 (Arg-->Pro), and codon 10 (Leu-->Pro) polymorphisms and alleles do not play a role as a genetic risk factor in the development and clinical progress of ITP. 14608199

2003

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: C0333983
Disease: Hyperplastic Polyp
Hyperplastic Polyp
0.010 GeneticVariation BEFREE Whereas adenoma risk did not vary by TGFbeta1 L10P genotype, these results suggest that the L10P variant allele may have a protective role in the development of colorectal hyperplastic polyps, possibly consistent with its role as an inhibitor of epithelial growths. 15020570

2004