Bone mineral density in relation to polymorphism at the vitamin D receptor gene locus

Frank G. Hustmyer, Munro Peacock, Siu Hui, C. Conrad Johnston, Joe Christian

Research output: Contribution to journalArticle

233 Scopus citations

Abstract

Polymorphism at the vitamin D receptor gene was examined in relation to bone mineral density (BMD) at spine, femur, and forearm in 86 monozygotic (MZ) and 39 dizygotic (DZ) adult female twins. All were white, 63 pairs (44 MZ, 19 DZ) were premenopausal, and 43 pairs (31 MZ, 12 DZ) were discordant for age at menopause or use of estrogen. Each individual of the DZ pairs and one individual of MZ pairs was genotyped for ApaI, BsmI, and TaqI polymorphism at the vitamin D receptor gene locus using Southern hybridization. Intraclass correlations for BMD in MZ and DZ twin pairs indicated that heritability accounted for over 70% of BMD. There was no relationship between genotype for any of the three polymorphisms and BMD at any skeletal site in the twin population, considered either as a total population, both with and without twins discordant for age at menopause or use of estrogen, or as a premenopausal population. In DZ twin pairs discordant for alleles for the three polymorphisms, no allele was associated with higher or lower BMD. It is concluded that in this population of healthy adult females there was no relationship between these polymorphisms at the vitamin D receptor gene locus and BMD.

Original languageEnglish (US)
Pages (from-to)2130-2134
Number of pages5
JournalJournal of Clinical Investigation
Volume94
Issue number5
DOIs
StatePublished - Nov 1994

Keywords

  • age-related bone loss
  • fractures
  • heritability
  • osteoporosis
  • twins

ASJC Scopus subject areas

  • Medicine(all)

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