title: Vitamin D-receptor genotypes as independent genetic predictors of decreased bone mineral density in primary biliary cirrhosis.
abstract: OBJECTIVE
  Hepatic osteodystrophy is a complication of primary biliary cirrhosis (PBC). Allelic polymorphisms of the vitamin D receptor (VDR) gene are related to bone mineral density (BMD) in normal cohorts and those with primary osteoporosis. We sought to establish the prevalence of reduced bone mass in PBC, correlate BMD with VDR gene polymorphisms, and identify risk factors for the development of hepatic osteodystrophy.
  
  
  METHODS
  Seventy-two female patients with PBC were evaluated prospectively. Clinical information, BMD assessment, disease severity, and osteoporosis risk factors were documented, and multivariate regression modeling was performed.
  
  
  RESULTS
  Twenty-four percent of the patients were osteoporotic at the lumbar spine and 32% at the femur. Severe bone loss (z score <-2.0) occurs 4 times more frequently in patients with PBC compared with controls. Body weight (P = 0.003) and postmenopausal status (P = 0.012) correlated independently with BMD. VDR genotype (P = 0.01) correlated with lower BMD at the spine only.
  
  
  CONCLUSIONS
  Osteoporosis is a common complication of PBC. VDR genotype predicts lower BMD in patients with PBC. Studies are warranted to investigate the mechanism(s) by which VDR as well as other candidate genes may contribute to the development of hepatic osteodystrophy in PBC.
authors.affiliation: Department of Medicine, University Health Network, University of Toronto, Ontario, Canada.
authors.forename: J E
authors.initials: JE
authors.lastname: Springer
authors.forename: D E
authors.initials: DE
authors.lastname: Cole
authors.forename: L A
authors.initials: LA
authors.lastname: Rubin
authors.forename: K
authors.initials: K
authors.lastname: Cauch-Dudek
authors.forename: L
authors.initials: L
authors.lastname: Harewood
authors.forename: J
authors.initials: J
authors.lastname: Evrovski
authors.forename: V D
authors.initials: VD
authors.lastname: Peltekova
authors.forename: E J
authors.initials: EJ
authors.lastname: Heathcote
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D015519:Bone Density / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008105:Liver Cirrhosis, Biliary / Q000235:genetics* / Q000503:physiopathology*; D008875:Middle Aged; D010024:Osteoporosis / Q000209:etiology*; D011110:Polymorphism, Genetic; D018167:Receptors, Calcitriol / Q000235:genetics*; D012044:Regression Analysis; D012307:Risk Factors
chemical_list: D018167:Receptors, Calcitriol