TGFB1, transforming growth factor beta 1, 7040

N. diseases: 1558; N. variants: 50
Disease: Spondylarthritis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800470
rs1800470
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C0949690
Disease:
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