Vitamin D receptor gene polymorphisms are associated with adiposity phenotypes

Am J Clin Nutr. 2011 Jan;93(1):5-10. doi: 10.3945/ajcn.2010.29986. Epub 2010 Nov 3.


Background: Emerging data suggest a role for the vitamin D receptor (VDR) in lipogenesis and adipocyte differentiation.

Objective: Our objective was to evaluate the association of VDR gene variants and adiposity phenotypes in an epidemiologic study.

Design: In a sample of 1773 healthy female adults recruited from western New York, we tested for the association of 14 VDR single nucleotide polymorphisms (SNPs) with the following 3 adiposity phenotypes: body mass index (in kg/m²), waist circumference (in cm), and abdominal height (in cm). We examined age, education, total energy intake, smoking status, alcohol intake, and menopausal status as potential covariates.

Results: One SNP, rs3782905, remained associated with all 3 adiposity phenotypes after multiple-testing correction (Bonferroni-adjusted P = 0.004). The mean waist circumference for women with the rs3782905 homozygous rare genotype was 4.4 cm larger than for women with the common homozygous genotype. Two other VDR SNPs were associated with waist circumference and abdominal height, but the associations did not survive multiple-testing correction. Adjustment for covariates did not influence the results.

Conclusion: The study results and the biological activity of VDR in adipocyte differentiation suggest that 3' VDR variants may play a role in adiposity phenotypes.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Adiposity*
  • Adult
  • Aged
  • Aged, 80 and over
  • Body Mass Index
  • CDX2 Transcription Factor
  • Female
  • Homeodomain Proteins / physiology
  • Humans
  • Middle Aged
  • Phenotype
  • Polymorphism, Single Nucleotide*
  • Receptors, Calcitriol / genetics*
  • Trans-Activators / physiology
  • Waist Circumference


  • CDX2 Transcription Factor
  • Homeodomain Proteins
  • Receptors, Calcitriol
  • Trans-Activators