Vitamin D receptor genotype is associated with fat-free mass and sarcopenia in elderly men

J Gerontol A Biol Sci Med Sci. 2004 Jan;59(1):10-5. doi: 10.1093/gerona/59.1.b10.


We investigated the association of vitamin D receptor (VDR) genotype with fat-free mass (FFM) in a cohort of 302 older (aged 58-93 years) Caucasian men who underwent body composition analysis by dual-energy X-ray absorptiometry, and completed questionnaires addressing comorbidities, physical activity, and dietary intake. All participants were genotyped for a VDR translation start site (FokI) polymorphism [FF (37.7%), Ff (48.4%), and ff (13.9%)] and the previously studied BsmI polymorphism [BB (24.9%), Bb (37.7%), and bb (37.4%)]. The BsmI polymorphism was not associated with FFM in any analysis; however, the FokI polymorphism was significantly associated with total FFM, appendicular FFM, and relative (kg/m(2)) appendicular FFM (all p <.05), with the FF group demonstrating significantly lower FFM than the Ff and ff groups (e.g., total FFM: FF = 57.6 +/- 0.4, Ff = 59.4 +/- 0.4, ff = 59.4 +/- 0.7 kg; p <.02). Age-adjusted logistic regression revealed a 2.17-fold higher risk for sarcopenia (defined previously as appendicular FFM <7.26 kg/m(2)) in FF homozygotes (95% CI [confidence interval] = 1.19-3.85; p =.03) compared to men with one or more f alleles. The VDR translation start site (FokI) polymorphism is significantly associated with FFM and sarcopenia in this cohort of older Caucasian men.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Aged
  • Aged, 80 and over
  • Body Mass Index
  • Deoxyribonucleases, Type II Site-Specific / genetics
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Muscle, Skeletal / pathology*
  • Polymorphism, Genetic
  • Receptors, Calcitriol / genetics*
  • Site-Specific DNA-Methyltransferase (Adenine-Specific) / genetics


  • Receptors, Calcitriol
  • DNA modification methylase FokI
  • Site-Specific DNA-Methyltransferase (Adenine-Specific)
  • endodeoxyribonuclease BsmI
  • Deoxyribonucleases, Type II Site-Specific