Genomic Medicine Explains Vitamin D Dilemmas

March 07, 2021

Genomic Medicine 1: Vitamin D Deficiency Explained!

In the year 1900, some 50% of Wisconsin children had variations of rickets. My mother had rickets as a little girl. There is pretty good proof that neonatal jaundice comes from too low of Vitamin D. (The only negative study showed levels of 14 in the non-jaundiced group and 10 in the jaundiced group: both are way, way too low.) Vitamin D controls 10% of the human genome and we don't get much (actually any) in Wisconsin, in winter. The sun is now back up to 42 degrees, and soon will be high enough to provide enough UVB radiation for you to start making Vitamin D, if you are outside during 10-3 period of time of intense sunlight. 10% of the human genome controlled by Vitamin D! That's huge. Vitamin D is important.

I've been intrigued by Vitamin D for 20 years now, ever since I found my level to be 7 when I first measured it. How could I be so low? I've found the answer.

Genes. Genomic medicine has arrived. The ability to check your genes and, more importantly, how to convert that information into actionable effects is now at hand.

You have 8 billion base pairs in your DNA. We all do. Three base combinations of the 4 DNA "letters" or bases code for the 20 amino acids that make up the magical compounds called proteins. Proteins are hundreds and often thousands of amino acids long, folded in careful shapes and activated by differing cross-links or metals in their active domains. The coding for a protein that is 600 amino acids long would be DNA that has 1800 base pairs, and the coding regions for activating the DNA transcription or "interpretation".

What happens if you have a "mistake" or misinterpretation of a single base pair? That is called a SNP, or "snip". Single Nucleotide Polymorphism. One SNP in black cows makes for A1 milk as it alters the casein protein at amino acid 67 and makes for a 7 amino acid fragment humans can't digest. Just by chance. Brown cows don't have that. Humans that eat A-1 milk have their immune system "jiggled" or nudged just a bit: enough to induce insulin-dependent diabetes, for starters.

What about Vitamin D SNPs? We can now measure them. Each of us has some 4-5 million SNPs in our 8 billion base pairs. Maybe more. That's a guestimate. And companies are racing to be the first to make it useable information. IntellxxDNA is "Best in Class" so far. I got my DNA examined and I looked at my Vitamin D SNPS. I have a boat-load of them in my Vitamin D domain, mostly in my conversion of cholesterol in Vitamin D. The two proteins that help sunlight make 25-hydroxyvitamin D3 (25(OH)D) have identifiable SNPS, and I have both of them. You get one copy of DNA from each parent, so having 1 copy of the SNP is potentially troublesome. Having two is a slam dunk big problem. My DNA shows that I have two copies of both SNPs. I have a huge reduction in my ability to make Vitamin D. The only solution for me is to take it as a supplement. The odds ratio of being deficient for me with my SNPs is 2.12 x 10 -27th power. Now, Vitamin D needs a carrier protein to transport it to the liver, and then to the kidney to manufacture the final useable product. Those SNPs I've got too but only 1 of each, so I can still transport D, just a little slower. And finally, my intracellular D receptor, where you actually activate the 10% of your genes with Vitamin D, I've got those covered with normal proteins. Whew, dodged that bullet.

All that wisdom right in front of my eyes. I can read my genes and have actionable behaviors that help me decide how to manage my Vitamin D.

The implications of D are huge. Osteoporosis is the classic. But heart disease, cognitive function, diabetes, mood disorders, immune function, cancer all have relatable issues for which D is relevant. That means everybody.

www.What will Work for me. This is such a huge topic. I'm mesmerized. Bear with me as I take you on the journey over the next few weeks of discovering how to turn this dry information of DNA coding into actionable behaviors. This is the future of all medicine: measuring your DNA and identifying precisely how to manage it. No wonder my mother got rickets. And now knowing the prevalence of these SNPs in the population, no wonder half of Wisconsin had rickets in 1900. These are not rare genes. My set is nasty. Some 15-20% of folks are in the same boat as I am. 


References: Science Direct, Palomar EDU, Medline Plus,

Pop Quiz

1. What are your "genes" composed of?                                    Answer: 8 billion base pairs of DNA.

2. How do you translate DNA into your proteins?                          Answer: Proteins are made of 20 different amino acids. Like snap beads on a necklace. Each amino acid is coded for by a different triplet of DNA base pairs. For example, the amino acid glycine is coded for by GGT. Glutamine is coded for by CAA.

3. Is your DNA perfect?                                Answer: Well, actually not. We probably have many millions of DNA fractures happen every day and have a whole set of proteins tasked with repairing that damage. Every now and then, a mistake happens that you don't/can't fix. You then have a SNP: single nucleotide polymorphism. You pass that on to your kids.  Most of those mistakes make for an amino acid change that doesn't do much damage to its parent protein. But some do alter behavior a little. Some do a lot. Two copies of an alteration that is harmful leads to genetic disease.

4. Can we alter our "fate" if we know our genes?                        Answer: Yes, dramatically. You don't need a gene transplant. You need to know the tools to modulate those risks.

5. How can you modulate Vitamin D SNPs?                                   Answer: We now can manufacture Vitamin D very inexpensively. You can take more. We can also upregulate the Vitamin D receptor proteins inside the cell dramatically by increasing your blood level of magnesium, curiously enough. That is part of how magnesium has so many beneficial effects.