title: Parathyroid hormone gene polymorphisms in primary hyperparathyroidism.
abstract: OBJECTIVE
  Genetic contributions to bone mineral density (BMD) and bone turnover are well known. In the present study, we analysed the relationship between restriction fragment length polymorphisms of the PTH gene and the development of primary hyperparathyroidism (pHPT) as well as its severity.
  
  
  METHODS
  Seventy-nine pHPT patients and 104 age-matched healthy controls were analysed.
  
  
  METHODS
  PTH genotypes were determined by polymerase chain reaction and BstB I or Dra II restriction fragment length polymorphisms. The presence and absence of BstB I or Dra II restriction sites of the PTH gene were indicated by B and b or D and d, respectively. BMD levels at the lumbar spine and at the radius were measured in all subjects. Serum levels of calcium, phosphorus, alkaline phosphatase and intact PTH were measured in pHPT patients.
  
  
  RESULTS
  There were no differences in the frequencies of these PTH genotypes between pHPT patients and controls. In control subjects, lumbar BMD was significantly higher in BB genotype than in Bb/bb genotypes. In pHPT patients, there was no difference of BMD between BB and Bb/bb genotypes. In pHPT patients, serum calcium level was significantly higher in those with the BB genotype than Bb/bb genotypes. On the other hand, there was no association between Dra II polymorphism and BMD in both controls and pHPT patients, but serum intact PTH level was significantly higher in DD genotype than Dd/dd genotype in pHPT patients. Moreover, serum levels of ALP and intact PTH were significantly higher in the PTH BBDD haplotype, compared to those in haplotypes other than BBDD.
  
  
  CONCLUSIONS
  The present study suggests that the BstB I polymorphism of PTH gene is closely related to bone mineral density and that PTH gene polymorphisms do not seem to affect the development of primary hyperparathyroidism but may relate to the severity of primary hyperparathyroidism.
authors.affiliation: Department of Medicine, Kobe University School of Medicine, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Kanzawa
authors.forename: T
authors.initials: T
authors.lastname: Sugimoto
authors.forename: T
authors.initials: T
authors.lastname: Kobayashi
authors.forename: A
authors.initials: A
authors.lastname: Kobayashi
authors.forename: K
authors.initials: K
authors.lastname: Chihara
mesh_terms: D000469:Alkaline Phosphatase / Q000097:blood; D015519:Bone Density / Q000235:genetics; D016022:Case-Control Studies; D005260:Female; D005838:Genotype; D006801:Humans; D006961:Hyperparathyroidism / Q000201:enzymology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010281:Parathyroid Hormone / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D010281:Parathyroid Hormone; D000469:Alkaline Phosphatase