Introduction: Osteoporosis is the most common metabolic bone disorder of the elderly, affecting the normal bone turnover with and 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 collected over 2,000 Italian individuals and studied their bone mineral density (BMD) and fractures in relation to age, sex and body mass index (BMI). Moreover, we analyzed the distribution of Sp1 polymorphism in this Italian population and associated it to normal bone status, osteopenic condition or osteoporosis diagnosis, to BMD and to the presence of low-trauma fractures. Results: The most rare ss genotype showed a trend for osteoporosis diagnosis with respect to both normal and osteopenic status. The same genotype showed to be associated to lower values of BMD both at spine and femur sites. No association was found with fractures. Discussion: In conclusion the presence of the homozygote ss genotype seemed to predispose to osteoporosis diagnosis and to be more frequent in subjects with lower spine and femur BMD values.

COL1A1 Sp1 variation and bone phenotypes in an Italian population / Marini F; Parri S; Masi L; Ciuffi S; Guazzini A; Fabbri S; Luzi E; Cianferotti L; Brandi ML. - In: CLINICAL CASES IN MINERAL AND BONE METABOLISM. - ISSN 1724-8914. - STAMPA. - 10:(2013), pp. 133-138.

COL1A1 Sp1 variation and bone phenotypes in an Italian population

MARINI, FRANCESCA;GUAZZINI, ANDREA;CIANFEROTTI, LUISELLA;BRANDI, MARIA LUISA
2013

Abstract

Introduction: Osteoporosis is the most common metabolic bone disorder of the elderly, affecting the normal bone turnover with and 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 collected over 2,000 Italian individuals and studied their bone mineral density (BMD) and fractures in relation to age, sex and body mass index (BMI). Moreover, we analyzed the distribution of Sp1 polymorphism in this Italian population and associated it to normal bone status, osteopenic condition or osteoporosis diagnosis, to BMD and to the presence of low-trauma fractures. Results: The most rare ss genotype showed a trend for osteoporosis diagnosis with respect to both normal and osteopenic status. The same genotype showed to be associated to lower values of BMD both at spine and femur sites. No association was found with fractures. Discussion: In conclusion the presence of the homozygote ss genotype seemed to predispose to osteoporosis diagnosis and to be more frequent in subjects with lower spine and femur BMD values.
2013
10
133
138
Marini F; Parri S; Masi L; Ciuffi S; Guazzini A; Fabbri S; Luzi E; Cianferotti L; Brandi ML
File in questo prodotto:
File Dimensione Formato  
COL1A1 variatio and bone_2013.pdf

Accesso chiuso

Descrizione: articolo principale
Tipologia: Pdf editoriale (Version of record)
Licenza: Tutti i diritti riservati
Dimensione 163.94 kB
Formato Adobe PDF
163.94 kB Adobe PDF   Richiedi una copia

I documenti in FLORE sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/872741
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 4
  • ???jsp.display-item.citation.isi??? ND
social impact