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Consequences Of Vitamin D Receptor Gene Polymorphisms For Growth Inhibition Of Cultured Human Peripheral Blood Mononuclear Cells By 1,25‐dihydroxyvitamin D3

E. Colin, A. Weel, A. Uitterlinden, C. Buurman, J. Birkenhäger, H. Pols, J. V. van Leeuwen
Published 2000 · Biology, Medicine

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In the vitamin D receptor (VDR) gene a BsmI restriction fragment length polymorphism (RFLP) in intron 8 and a translational start‐site polymorphism, identified as a FokI RFLP, have been described. Crucial for a proper interpretation of these polymorphisms in association studies is the knowledge whether they have direct consequences for 1,25‐(OH)2D3 action at cellular level. The present study was designed to assess functional significance of the FokI and BsmI VDR gene polymorphisms in peripheral blood mononuclear cells (PBMC) with a natural occurring VDR genotype for cell growth inhibition by 1,25‐(OH)2D3.
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