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Replication study of the vitamin D receptor (VDR) genotype association with skeletal muscle traits and sarcopenia

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Abstract

Polymorphisms in the vitamin D receptor (VDR) gene are some of the most studied in relation to skeletal muscle traits and significant associations have been observed by multiple groups. One such paper by our group provided the first evidence of a genetic association with sarcopenia in men, but that finding has yet to be replicated in an independent cohort. In the present study, we examined multiple VDR polymorphisms in relation to skeletal muscle traits and sarcopenia in 864 men and women across the adult age span. In addition to VDR genotypes and haplotypes, measurements of skeletal muscle strength and fat-free mass (FFM) were determined in all subjects and a measure of sarcopenia was calculated. We observed significant associations between Fok1 and Bsm1 genotypes and skeletal muscle strength in men and women, though these associations were modest and no significant associations were observed for these polymorphisms and muscle mass traits nor for Bsm1–Taq1 haplotype with muscle strength. Fok1 FF genotype was associated with an increased the risk of sarcopenia in older women compared to f-allele carriers (1.3-fold higher risk). These results support previous findings that VDR genetic variation appears to impact skeletal muscle strength and risk for sarcopenia but the influence is modest.

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Acknowledgments

We thank the volunteers who made this study possible.

Funding

The BLSA research was conducted as a component of the Intramural Research Program of the National Institute on Aging. This work was further sponsored by grants AG021500 and AG022791 from the National Institutes of Health. A. Ludlow was supported by an NIH pre-doctoral training grant AG000268.

Conflict of interest

The authors report no conflicts of interest regarding this manuscript.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from all individual participants included in the study.

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Authors and Affiliations

  1. Department of Physical Education and Human Performance, School of Education and Professional Studies, Central Connecticut State University, New Britain, CT, 06050, USA

    Sean Walsh

  2. Department of Kinesiology, School of Public Health, University of Maryland, 2153 SPH Building, College Park, MD, 20742, USA

    Andrew T. Ludlow & Stephen M. Roth

  3. Clinical Research Branch, National Institute on Aging, Harbor Hospital, Baltimore, MD, 21225, USA

    E. Jeffrey Metter & Luigi Ferrucci

Authors
  1. Sean Walsh
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  2. Andrew T. Ludlow
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  3. E. Jeffrey Metter
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  4. Luigi Ferrucci
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  5. Stephen M. Roth
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Correspondence to Stephen M. Roth.

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Walsh, S., Ludlow, A.T., Metter, E.J. et al. Replication study of the vitamin D receptor (VDR) genotype association with skeletal muscle traits and sarcopenia. Aging Clin Exp Res 28, 435–442 (2016). https://doi.org/10.1007/s40520-015-0447-8

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  • DOI: https://doi.org/10.1007/s40520-015-0447-8

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