Transforming growth factor-β1 gene polymorphism, bone turnover, and bone mass in italian postmenopausal women

Francesco Bertoldo, Leonardo D'agruma, Federico Furlan, Francesca Colapietro, Maria Tiziana Lorenzi, Nunzia Maiorano, Achille Iolascon, Leopoldo Zelante, Vincenzo Locascio, Paolo Gasparini

Research output: Contribution to journalArticlepeer-review


Transforming growth factor β1 (TGF-β1) is abundant in bone and is an important regulator of the osteoclastic-osteoblastic interaction (coupling). The sequence variation, 713-8delC in the TGF-β1 gene has previously been found to be associated with very low bone mass in osteoporotic women and with increased bone turnover in both osteoporotic and normal women. The possible association of this polymorphism with bone mass and bone turnover has now been investigated in 256 postmenopausal Italian women. A significant association of TGF-β1 with bone mass was detected in the populations. Subjects carrying the sequence variation 713-8delC (Tt) genotype showed a significantly lower bone mineral density (BMD) at the hip than those without sequence variation in the genotype (TT). Individuals carrying the tt genotype have a more severe osteoporosis (P = 0.0001 vs. TT and Tt genotypes). The frequency of the fragility fractures was significantly lower in individuals with TT genotype than in those with the Tt and tt genotypes (X2 =21.9; P = 0.006). Furthermore a significant association was found between 713-8delC and bone turnover. The results suggest a strong evidence for an association among the 713-8delC allele of the TGF-β1 gene and the femoral BMD, the prevalence of osteoporotic fractures, and finally a high bone turnover in a sample of Italian postmenopausal women.

Original languageEnglish
Pages (from-to)634-639
Number of pages6
JournalJournal of Bone and Mineral Research
Issue number4
Publication statusPublished - 2000


  • Bone mass
  • Bone turnover
  • Osteoporosis
  • Sequence variations
  • Transforming growth factor β1

ASJC Scopus subject areas

  • Surgery


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