COL1A1 Sp1 variation and bone phenotypes in an Italian population.

ABSTRACT:

Background

Osteoporosis is the most common metabolic bone disorder of the elderly, affecting the normal bone turnover with an increased bone resorption and subsequent higher risk of fragility fractures. Collagen type 1 is the most represented protein in bone matrix. A genetic variation (Sp1) in intron 1 of COL1A1 gene has been associated to modulation of expression of the alpha 1 chain of collagen type 1 and it is considered a candidate polymorphism for predisposition to osteoporosis status and fragility fractures. Association studies, in ethnically different populations, are needed to strongly confirm the role of this polymorphism in bone metabolism.

Materials and methods

We enrolled over 2,000 Italian individuals and studied their bone mineral density (BMD) and fractures i

SUBMITTER: Marini F 

PROVIDER: S-EPMC3797002 | biostudies-literature | 2013 May

REPOSITORIES: biostudies-literature