Source: BEFREE

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

dbSNP: rs1800470
rs1800470
CUI: C0029458
Disease: Osteoporosis, Postmenopausal
Osteoporosis, Postmenopausal
0.020 GeneticVariation BEFREE We previously reported an association between the 29C>T polymorphism in the transforming growth factor-β1 gene (rs1800470) and the prevalence of vertebral fractures in subjects with postmenopausal osteoporosis. 22066986

2012

dbSNP: rs1800470
rs1800470
CUI: C0263912
Disease: Rotator cuff syndrome
Rotator cuff syndrome
0.010 GeneticVariation BEFREE We observed that carriers of the rare allele of both studied variants of TGFB1, as well as their G/A (rs1800470/rs1800469) haplotype, were less susceptible to RCT (p < 0.05). 31444797

2020

dbSNP: rs1800470
rs1800470
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.010 GeneticVariation BEFREE We investigated whether G-800A, C-509T and Leu10-->Pro polymorphisms in the TGF-beta1 gene could be involved in the development and progression of immunoglobulin A nephropathy (IgAN). 15593052

2005

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: 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: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.010 GeneticVariation BEFREE We found that c.29C>T substitution increased the risk of bladder cancer significantly and recessive model of analysis was the best fitted model (p=0.004; OR=1.72 95% CI 1.18-2.50). 26048435

2015

dbSNP: rs1800470
rs1800470
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.010 GeneticVariation BEFREE We found that c.29C>T substitution increased the risk of bladder cancer significantly and recessive model of analysis was the best fitted model (p=0.004; OR=1.72 95% CI 1.18-2.50). 26048435

2015

dbSNP: rs1800470
rs1800470
Malignant neoplasm of urinary bladder
0.010 GeneticVariation BEFREE We found that c.29C>T substitution increased the risk of bladder cancer significantly and recessive model of analysis was the best fitted model (p=0.004; OR=1.72 95% CI 1.18-2.50). 26048435

2015

dbSNP: rs1800470
rs1800470
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
Congenital Dysplasia Of The Hip
0.020 GeneticVariation BEFREE We found SNP rs1800470 in TGFB1 (OR = 1.255, P = 0.0004) and rs1800796 (OR = 0.84, P = 0.0228) in IL-6 to be significantly associated with DDH in this cohort. 28860542

2017

dbSNP: rs1800470
rs1800470
CUI: C0043144
Disease: Wheezing
Wheezing
0.010 GeneticVariation BEFREE We found an association between rs1800470 (C allele) and atopic wheezing (odds ratio [OR], 0.60; 95% confidence interval [CI], 0.37-0.95) and markers of allergy (OR, 0.41; 95% CI, 0.22-0.79). 28284979

2017

dbSNP: rs1800470
rs1800470
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE We found no evidence for an association of the L10P SNP with breast cancer risk (per-allele odds ratio: 0.91; 95% confidence interval: 0.71-1.16). 23887657

2013

dbSNP: rs1800470
rs1800470
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE We found no evidence for an association of the L10P SNP with breast cancer risk (per-allele odds ratio: 0.91; 95% confidence interval: 0.71-1.16). 23887657

2013

dbSNP: rs1800470
rs1800470
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block
0.010 GeneticVariation BEFREE We examined whether three putative polymorphisms in TGFβ1[-509 C/T (rs1800469), +869 C/T (rs1800470), and +11929 C/T (rs1800472)]are associated with CHB infection in a South-Eastern Iranian population. 28700046

2017

dbSNP: rs1800470
rs1800470
CUI: C3888044
Disease: Nephrogenic Systemic Fibrosis
Nephrogenic Systemic Fibrosis
0.010 GeneticVariation BEFREE We examined whether an intronic single-nucleotide polymorphism (SNP) in caveolin-1 (CAV1 rs4730751) and 2 coding SNPs in transforming growth factor-beta 1 (TGFB1 rs1800471, codon 25; and rs1800470, codon 10) were associated with the NSF phenotype. 23051628

2013

dbSNP: rs1800470
rs1800470
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia
0.010 GeneticVariation BEFREE We evaluated the influence of the TGFB1 polymorphisms by ARMS-PCR, Leu10Pro, and Arg25Pro, on prostate cancer (PCa) and benign prostatic hyperplasia (BPH). 18058470

2007

dbSNP: rs1800470
rs1800470
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.030 GeneticVariation BEFREE We evaluated the influence of the TGFB1 polymorphisms by ARMS-PCR, Leu10Pro, and Arg25Pro, on prostate cancer (PCa) and benign prostatic hyperplasia (BPH). 18058470

2007

dbSNP: rs1800470
rs1800470
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.030 GeneticVariation BEFREE We evaluated the influence of the TGFB1 polymorphisms by ARMS-PCR, Leu10Pro, and Arg25Pro, on prostate cancer (PCa) and benign prostatic hyperplasia (BPH). 18058470

2007

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: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma
0.010 GeneticVariation BEFREE We analyzed 2 single nucleotide polymorphisms (SNPs) of TGF-beta1 gene promoter -509C/T and 869T/C (Leu10Pro) at exon one in 108 patients with NPC and 120 age- and sex-matched controls in a Chinese population, using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) strategy. 17368597

2007

dbSNP: rs1800470
rs1800470
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.010 GeneticVariation BEFREE We aimed to evaluate the multivariate effect of TNF-α rs361525, rs1800750, rs1800629, IL-10 rs1800896, rs1800872, IL-6 rs1800795, TGF-β1 rs1800470, IFN-γ rs2430561 single nucleotide polymorphisms (SNPs) on AML risk, the multivariate effect of SNPs on overall survival (OS) in AML and the association between the investigated SNPs and prognostic factors in AML. 31373163

2019