Impact of genetic variations on the response to vitamin D therapy

Approval date

Vitamin D supplements are transformed to 25 hydroxyvitamin D (25OHD) levels in our blood. This study aims to compare the response to vitamin D supplements of individuals carrying a specific vitamin D related genetic mutation (carriers) compared to individuals without the mutation (non-carriers). This genetic mutation affects a key enzyme in vitamin D metabolism, named CYP2R1, leading to reduced conversion of vitamin D to 25OHD. The study will have direct clinical relevance, since these individuals have low 25OHD levels and efforts to increase their 25OHD level are likely to be delayed by their genetic mutation in CYP2R1. After a series of tests and supplement intake, they will perform blood draws for measurement of 25OHD levels before and after treatment in both groups and compare the change in 25OHD between carriers and non-carriers. The main reason for using CARTaGENE participants for this study is the availability of genotyped data in a large sample of individuals, enabling enough number of cases and controls to test our study hypothesis.