title: CLCN7 polymorphisms and bone mineral density in healthy premenopausal white women and in white men.
abstract: BACKGROUND
  Mutations in the chloride channel 7 gene (CLCN7) cause osteopetrosis, and polymorphisms of CLCN7 in the non-disease allele are associated with penetrance of the autosomal dominant osteopetrosis (ADO) phenotype. Studies have also shown an association between CLCN7 polymorphisms and bone mineral density (BMD) in women. However, there is no study to date that has examined whether CLCN7 polymorphisms underlie normal variation of peak BMD in healthy premenopausal white women and in white men.
  
  
  METHODS
  Six single nucleotide polymorphisms (SNPs) and one variable number tandem repeat (VNTR) polymorphism in the CLCN7 gene were genotyped. Association was tested between CLCN7 gene polymorphisms and both lumbar spine and femoral neck BMD. Healthy premenopausal white sisters (age 33.1+/-7.2, n=1692) and healthy white brothers (age 33.6+/-10.9, n=715) were studied.
  
  
  RESULTS
  No significant association between CLCN7 gene polymorphisms and BMD at the lumbar spine or femoral neck was found in white women or white men.
  
  
  CONCLUSIONS
  Genetic variation in the CLCN7 gene is not a major contributor to the variability in peak BMD at the femoral neck and lumber spine in healthy premenopausal white women and in white men.
authors.affiliation: Department of Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
authors.forename: Kang
authors.initials: K
authors.lastname: Chu
authors.forename: Daniel L
authors.initials: DL
authors.lastname: Koller
authors.forename: Shoji
authors.initials: S
authors.lastname: Ichikawa
authors.forename: Richard
authors.initials: R
authors.lastname: Snyder
authors.forename: Leah
authors.initials: L
authors.lastname: Curry
authors.forename: Dongbing
authors.initials: D
authors.lastname: Lai
authors.forename: Anthony
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authors.lastname: Austin
authors.forename: Xiaoling
authors.initials: X
authors.lastname: Xuei
authors.forename: Howard J
authors.initials: HJ
authors.lastname: Edenberg
authors.forename: Siu L
authors.initials: SL
authors.lastname: Hui
authors.forename: Tatiana M
authors.initials: TM
authors.lastname: Foroud
authors.forename: Munro
authors.initials: M
authors.lastname: Peacock
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Econs