Genetic influences on vitamin d status and forearm fracture risk in african american children

Leticia Manning Ryan, James M. Chamberlain, Steven A. Singer, Rachel Wood, Laura L. Tosi, Robert J. Freishtat, Heather Gordish-Dressman, Stephen J. Teach, Joseph M. Devaney

Research output: Contribution to journalArticlepeer-review


We sought to investigate the relationship between newly identified genetic variants and vitamin D levels and fracture risk in healthy African American (black) children. This case-control study included children of both sexes, ages 5 to 9 years, with and without forearm fractures. Serum 25-hydroxy vitamin D levels, bone mineral density, body mass index, and calcium/vitamin D intake were measured in 130 individuals (n = 60 cases and n = 70 controls). The 5 variants tested were located in the GC gene (rs2282679), in the NADSYN1 gene (rs12785878 and rs3829251), and in the promoter region of the CYP2R1 gene (rs2060793 and rs104741657). Associations between single nucleotide polymorphisms (SNPs) and vitamin D levels were tested using an analysis of covariance. Associations between SNPs and fracture status were tested using logistic regression. The GC gene variant was associated with vitamin D levels (P = 0.038). None of the SNPs were associated with fracture status in young blacks. These results suggest that the variants tested, which are associated with circulating vitamin D levels in whites, are not associated with fracture status in healthy black children. Additional research is required to discover the genetics of fracture risk in blacks.

Original languageEnglish (US)
Pages (from-to)902-906
Number of pages5
JournalJournal of Investigative Medicine
Issue number6
StatePublished - Aug 2012


  • Body mass index
  • Bone mineral density
  • Fracture risk
  • Single nucleotide polymorphism
  • Vitamin D levels

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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