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Association of a Leu(10)-->Pro polymorphism of the transforming growth factor-beta1 with genetic susceptibility to osteoporosis and spinal osteoarthritis.

Abstract
Osteoporosis and osteoarthritis each exhibit a strong genetic component. Although polymorphisms of a variety of genes have been associated with bone mineral density and genetic susceptibility to osteoporosis or to osteoarthritis, the genes responsible for these conditions have not been definitively identified. 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.
AuthorsY Yamada
JournalMechanisms of ageing and development (Mech Ageing Dev) Vol. 116 Issue 2-3 Pg. 113-23 (Jul 31 2000) ISSN: 0047-6374 [Print] Ireland
PMID10996011 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • TGFB1 protein, human
  • Transforming Growth Factor beta
  • Transforming Growth Factor beta1
  • Proline
  • Leucine
Topics
  • Animals
  • Bone Density
  • Disease Susceptibility
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Leucine (genetics)
  • Osteoarthritis (genetics)
  • Osteoporosis (genetics)
  • Polymorphism, Genetic
  • Proline (genetics)
  • Radius
  • Transforming Growth Factor beta (blood, genetics)
  • Transforming Growth Factor beta1
  • Treatment Outcome

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