Waterhouse · The Journal of clinical endocrinology and metabolism 2014 · randomized controlled trial · n=644

Environmental, personal, and genetic determinants of response to vitamin D supplementation in older adults.

Cited 71 times in the scientific literature.

Level 2 - randomized trial

Secondary candidate-gene and determinant analysis of a randomized controlled trial

PubMed 24694335 · doi:10.1210/jc.2013-4101 · record verified 2026-08-30

What was done

In a 12-month pilot randomized controlled trial, 644 adults aged 60 to 84 years were randomly assigned to monthly doses of placebo, 30,000 IU, or 60,000 IU vitamin D3. Baseline personal characteristics were collected via questionnaire, and 88 single-nucleotide polymorphisms (SNPs) in 41 candidate genes were genotyped using Sequenom MassArray. Serum 25-hydroxyvitamin D [25(OH)D] was measured pre- and post-intervention using an immunoassay. Linear regression models examined genetic and nongenetic predictors of change in serum 25(OH)D.

What was found

Supplement dose and baseline 25(OH)D explained 24% of the variability in response to supplementation. Body mass index, self-reported health status, and ambient UV radiation made small additional contributions. SNPs in CYP2R1, IRF4, MC1R, CYP27B1, VDR, TYRP1, MCM6, and HERC2 were initially associated with 25(OH)D change, but only CYP2R1 remained significant after adjustment for multiple testing. Models including SNPs explained a similar proportion of response variability as models with personal and environmental factors (individual effect estimates and exact variance proportions for genetic models were not reported in the abstract).

Why it matters

It shows that while baseline status and dose drive about a quarter of the response to vitamin D supplementation, host genetic variation (notably in CYP2R1) independently contributes to individual response variability.

Limits

Investigation was confined to a candidate panel of 88 SNPs in 41 genes rather than a genome-wide scan. The study tested monthly bolus dosing in an older population (60–84 years), which may not generalize to daily dosing or younger demographics. Specific effect sizes and confidence intervals were omitted from the abstract.

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