What is it about?
Vitamin D deficiency is considered an important risk factor for many inflammatory, autoimmune diseases and colorectal cancer. A regulatory DNA variation (rs10877013), associated with multiple sclerosis (MS), reduces the expression of CYP27B1, a gene that encodes the enzyme required for the activation of vitamin D. This genetic variant influences the expression of vitamin D receptor (VDR) as well. Because the enzyme of CYP27B1 acts in the last step of the activation process of pre-vitamin D to a fully active molecule, it is an important bottleneck for its optimal biological functions.
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Why is it important?
Therefore, the two alleles of this genetic variant could synergize or counteract the impact of pre-vitamin D intake in food supplements or generated by exposure to the sun’ ultraviolet B light. This is a very good example of an interaction between genetics and environmental factors.
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This page is a summary of: The multiple sclerosis-associated regulatory variant rs10877013 affects expression of CYP27B1 and VDR under inflammatory or vitamin D stimuli, Multiple Sclerosis Journal, October 2015, SAGE Publications,
DOI: 10.1177/1352458515610208.
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