ATPase 1 is an enzyme which is responsible for pumping calcium ions out of cells, and is encoded for by the ATP2B1 gene 1. Little is known about the precise function of ATPase 1, but it is thought to be activated when vitamin D binds with its receptor VDR, thus providing the mechanism whereby vitamin D can increase levels of calcium in the blood 1.
There is one SNP within ATP2B1 which is associated with poor health outcomes; rs7965584.
|rsID Number||Major Allele||Minor Allele||Minor Allele Frequency (%)|
The risk ‘G’ allele of rs7965584 is associated with hypomagnesemia, a deficiency of magnesium in the blood 2. Magnesium is one of the most important metals involved in cellular and tissue processes and is required for good health. Although only a fraction of the magnesium in the body is present in the blood, it is easy to assay and reductions in the amount of detected magnesium is associated with diabetes, high blood pressure and osteoporosis 3–5.
How the risk ‘G’ allele of rs7965584 in what is thought to be a calcium transporter can influence magnesium levels in the blood is unknown. The authors of the study which identified the risk ‘G’ allele propose that this ATP2B1 may also function as a magnesium transporter alongside its calcium functions 2.
The risk ‘G’ allele of rs7965584 is associated a lack of magensium in the blood, therefore carriers may benefit from supplementation 2.
Discuss this information with your doctor before taking any course of action.