CLCN7 polymorphisms and bone mineral density in healthy premenopausal white women and in white men

Kang Chu, Daniel L. Koller, Shoji Ichikawa, Richard Snyder, Leah Curry, Dongbing Lai, Anthony Austin, Xiaoling Xuei, Howard Edenberg, Siu Hui, Tatiana Foroud, Munro Peacock, Michael Econs

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Introduction: 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.

Original languageEnglish
Pages (from-to)995-998
Number of pages4
JournalBone
Volume43
Issue number6
DOIs
StatePublished - Dec 2008

Fingerprint

Chloride Channels
Bone Density
Genes
Femur Neck
Osteopetrosis
Spine
Siblings
Minisatellite Repeats
Penetrance
Single Nucleotide Polymorphism
Alleles

Keywords

  • Association study
  • Bone mineral density (BMD)
  • chloride channel 7 gene (CLCN7)
  • Single nucleotide polymorphism (SNP)
  • Variable number tandem repeat (VNTR)

ASJC Scopus subject areas

  • Physiology
  • Endocrinology, Diabetes and Metabolism
  • Histology

Cite this

CLCN7 polymorphisms and bone mineral density in healthy premenopausal white women and in white men. / Chu, Kang; Koller, Daniel L.; Ichikawa, Shoji; Snyder, Richard; Curry, Leah; Lai, Dongbing; Austin, Anthony; Xuei, Xiaoling; Edenberg, Howard; Hui, Siu; Foroud, Tatiana; Peacock, Munro; Econs, Michael.

In: Bone, Vol. 43, No. 6, 12.2008, p. 995-998.

Research output: Contribution to journalArticle

Chu, Kang ; Koller, Daniel L. ; Ichikawa, Shoji ; Snyder, Richard ; Curry, Leah ; Lai, Dongbing ; Austin, Anthony ; Xuei, Xiaoling ; Edenberg, Howard ; Hui, Siu ; Foroud, Tatiana ; Peacock, Munro ; Econs, Michael. / CLCN7 polymorphisms and bone mineral density in healthy premenopausal white women and in white men. In: Bone. 2008 ; Vol. 43, No. 6. pp. 995-998.
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abstract = "Introduction: 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.",
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AU - Koller, Daniel L.

AU - Ichikawa, Shoji

AU - Snyder, Richard

AU - Curry, Leah

AU - Lai, Dongbing

AU - Austin, Anthony

AU - Xuei, Xiaoling

AU - Edenberg, Howard

AU - Hui, Siu

AU - Foroud, Tatiana

AU - Peacock, Munro

AU - Econs, Michael

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N2 - Introduction: 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.

AB - Introduction: 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.

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KW - Bone mineral density (BMD)

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