title: Calcium-sensing receptor gene polymorphism is not associated with bone mineral density in Italian postmenopausal women.
abstract: OBJECTIVE
  Calcium-sensing receptor (CaR) is a candidate gene for osteoporosis susceptibility. Several CaR polymorphisms have been identified and an association between the A986S genotype and serum calcium levels has been found in Canadian postmenopausal women. We investigated whether the presence of 986S allele was associated with bone mineral density (BMD) and osteoporotic fractures.
  
  
  METHODS
  The study group consisted of 164 Italian postmenopausal women without fragility fracture (Fx(-)) and 55 women with fracture (Fx(+)).
  
  
  METHODS
  A fragment of exon 7 of CaR gene containing three polymorphisms (A986S, R990G and Q1011E) was amplified by PCR and sequenced. Anthropometric characteristics and BMD were evaluated.
  
  
  RESULTS
  The A986S polymorphism was the most commonly observed (27.9%), whereas the other two CaR polymorphisms, R990G and Q1011E, occurred in a minority of cases (8.8 and 5.5% respectively). There was no significant difference in the frequency distribution of any CaR allele between Fx(-) and Fx(+) patients. Body mass index was found to predict BMD at the lumbar spine and femoral neck. The A986S polymorphism and Years since menopause were not independent predictors of BMD at any site. As far as fracture occurrence, there was no statistically significant difference in the prevalence of fractures between women carrying or not carrying the 986S allele.
  
  
  CONCLUSIONS
  Our data do not support a role of A986S CaR polymorphism in BMD and in the prevalence of fragility fractures in Italian postmenopausal women.
authors.affiliation: Dipartimento di Endocrinologia e Metabolismo, Ortopedia e Traumatologia, Medicina del Lavoro, Universita di Pisa, Pisa, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Cetani
authors.forename: E
authors.initials: E
authors.lastname: Pardi
authors.forename: S
authors.initials: S
authors.lastname: Borsari
authors.forename: E
authors.initials: E
authors.lastname: Vignali
authors.forename: G
authors.initials: G
authors.lastname: Dipollina
authors.forename: V
authors.initials: V
authors.lastname: Braga
authors.forename: S
authors.initials: S
authors.lastname: Adami
authors.forename: A
authors.initials: A
authors.lastname: Pinchera
authors.forename: C
authors.initials: C
authors.lastname: Marcocci
mesh_terms: D000368:Aged; D015519:Bone Density / Q000235:genetics*; D005260:Female; D005598:Fractures, Spontaneous / Q000453:epidemiology / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000453:epidemiology; D005838:Genotype; D006801:Humans; D007558:Italy; D008875:Middle Aged; D015663:Osteoporosis, Postmenopausal / Q000453:epidemiology / Q000235:genetics*; D011110:Polymorphism, Genetic; D017698:Postmenopause; D011237:Predictive Value of Tests; D015995:Prevalence; D044169:Receptors, Calcium-Sensing; D011956:Receptors, Cell Surface / Q000235:genetics*
chemical_list: D044169:Receptors, Calcium-Sensing; D011956:Receptors, Cell Surface