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Resumen de Genetic and Racial Differences in the Vitamin D Endocrine System

Roger Bouillon

  • Twin studies indicate that genetic factors may explain about 50% of the variation of serum 25-hydroxyvitamin D (25OHD). Polymorphisms of 3 genes, delta-7-sterol-reductase, CYP2R1, and DBP/GC (and maybe CYP24A1) combined, can explain about 5% to 10% of the variation in serum 25OHD. These polymorphisms are found in nearly all populations. The variation in serum 25OHD found in different areas and populations in the world is mainly due to environmental and lifestyle factors, not truly dependent on racial differences. One genetic variant of DBP, (GC2), is associated with a modest (∼10%) decrease in serum DBP and 25OHD concentrations for unexplained reasons.


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