title: Vitamin D receptor genotypes are associated with bone mass in patients with Turner syndrome.
abstract: BACKGROUND
  Turner syndrome (TS) patients present low bone mineral density (BMD) and increased fracture risk, probably due to a genetic defect aggravated by hormonal deficiency.
  
  
  OBJECTIVE
  To study the relationship between vitamin D receptor (VDR) gene polymorphisms and BMD and bone parameters in TS patients.
  
  
  METHODS
  DNA from 65 TS patients and 110 controls was amplified by PCR and digested with FokI, BsmI and ApaI restrictases. Lumbar and femoral BMD were determined by DEXA and serum intact parathyroid hormone, osteocalcin and beta-CrossLaps by electrochemiluminescence.
  
  
  RESULTS
  Genotype distribution within the ApaI site was different in both groups: genotype Aa was more abundant in TS (63.8% vs. 41.3%; p<0.01), whereas AA predominated in controls (33.9% vs. 15.5%; p<0.01). Patients carrying genotype bb (BsmI) or ff (FokI) had lower BMD than those with other genotypes (p<0.01 and p<0.05, respectively).
  
  
  CONCLUSIONS
  BsmI and FokI polymorphic sites of VDR could be genetic determinants of BMD in TS patients.
authors.affiliation: Laboratorio "Dr. Cañas", Cátedra de Bioquímica y Biología Molecular, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Córdoba, Argentina.
authors.forename: María
authors.initials: M
authors.lastname: Peralta López
authors.forename: Mirta
authors.initials: M
authors.lastname: Miras
authors.forename: Liliana
authors.initials: L
authors.lastname: Silvano
authors.forename: Adriana
authors.initials: A
authors.lastname: Pérez
authors.forename: Liliana
authors.initials: L
authors.lastname: Muñoz
authors.forename: Viviana
authors.initials: V
authors.lastname: Centeno
authors.forename: Gabriela
authors.initials: G
authors.lastname: Sobrero
authors.forename: María
authors.initials: M
authors.lastname: Ulla
authors.forename: Nori
authors.initials: N
authors.lastname: Tolosa de Talamoni
mesh_terms: D000293:Adolescent; D000483:Alleles; D001483:Base Sequence; D015519:Bone Density / Q000187:drug effects / Q000235:genetics*; D001851:Bone Diseases, Metabolic / Q000209:etiology / Q000235:genetics / Q000378:metabolism; D016022:Case-Control Studies; D017931:DNA Primers / Q000235:genetics; D004958:Estradiol / Q000627:therapeutic use; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D019382:Human Growth Hormone / Q000627:therapeutic use; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism; D012150:Polymorphism, Restriction Fragment Length; D018167:Receptors, Calcitriol / Q000235:genetics*; D011994:Recombinant Proteins / Q000627:therapeutic use; D014424:Turner Syndrome / Q000150:complications / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism*
chemical_list: D017931:DNA Primers; D018167:Receptors, Calcitriol; D011994:Recombinant Proteins; D019382:Human Growth Hormone; D004958:Estradiol