A study found no genetic risk factors associated with vitamin D in families with a history of multiple sclerosis (MS), suggesting that the link between vitamin D deficiency and MS risk is determined by environmental factors rather than a genetic predisposition.
The study “Exonic variants of genes related to the vitamin D signaling pathway in the families of familial multiple sclerosis using whole‐exome next generation sequencing” was published in the journal Brain and Behavior.
Vitamin D deficiency is increasingly suggested in studies to be a risk factor for developing MS and other autoimmune diseases. As researchers continue to explore whether vitamin D is able to change disease activity, or works as a neuroprotective and myelin repair factor, the debate continues on whether this deficiency has a genetic basis or not.
The hypothesis is that some people may carry genetic variations, or mutations, that impede communication of vitamin D messages to cells, or change the working of its pathway in the brain and spinal cord — the areas damaged by MS.
For this reason, researchers in Spain examined several genes linked to vitamin D signaling within cases of familial MS. They looked at mutations in 94 individuals from 15 families who had at least two members with the disease.
The vitamin D signaling pathway consists of the biological routes by which this vitamin reaches our body — produced in the skin through exposure to sunlight or the small intestine through dietary choices — its activation, conversion to a hormone, uptake by cells, and its biological actions, which range from maintaining calcium and phosphorus levels to regulating immune responses.
Using whole-exome next generation sequencing, the researchers analyzed genes involved at several points of this pathway, including DHCR7, CYP2R1, CYP3A4, CYP27A1, GC, CYP27B1, LRP2, CUBN, DAB2, FCGR, RXR, VDR, CYP24A1, and PDIA3.
By measuring a gene’s variability and comparing it among family members with MS, members with other autoimmune diseases, and those who were healthy, they hoped to identify specific mutations associated with MS.
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