VDR combination unusual ? Bsm CT +- and Taq GG --

[3Putt]

First post. 64 year old male with all the same symptoms you've seen here a hundred times. (fatigue, brain fog, muscle weakness, unsteady gait, memory problems....)

Any insight into the SNPs below would be greatly, GREATLY appreciated.

Is this VDR combination unusual ? Bsm CT +- and Taq GG -- (Is this significant or just an oddity?)

 

[Valentijn]

@3Putt - It's definitely not common. VDR Taq and VDR Bsm are in tight linkage disequilibrium, which means that they are nearly always inherited together.

The impact of them not being linked has not really been studied. But one paper (Table 3) which looked at VDR Taq and VDR Bsm status in controls and patients with a VDR-related disease did indicate that 7 of the 8 people with unlinked VDR Taq and VDR Bsm were in the "patient" group ("BB" with "tt", or "bb" with "TT" would be the normally linked versions). But the authors of the paper weren't looking at that specific correlation, so did not comment on it.

If you can't access the paper, or see the chart in it, the data from that chart is also at http://forums.phoenixrising.me/index.php?threads/the-great-vdr-taq-bsm-debate.24474/#post-374789

 

[inSeason]

Out of curiosity, do you know how rare unlinked genes are?

I have an unlinked VDR Bsm and VDR Taq [VDR Bsm (+,+) and VDR Taq (+,-)] too and I'm trying to figure out if Vitamin D3 supplementation is good for me.

All my COMT genes are (-,-).

Thanks!

 

[3Putt]

@Valentijn, thank you so much for your information. I have attempted to research it further but, of course, as you might imagine, details on this are very scarce. I will persist and report here if I find anything significant.

Ok, so my VDR Bsm and VDR Taq are unlinked. Is my logic correct in that it appears that since 7 out of 8 were in the patient group, that may imply that I may have a problem with potential osteomalacia (rickets in adults) ?

If so, it may be that I have inadvertently (or subconsciously?) averted a problem with this. In July 2012, at age 61, I decided to have my first ever test for Vitamin D, 25-Hydroxy. (It was 26 ng/mL in a reference range of 30.0-100.0). I started taking 5000 IU daily and re-tested in Jan 2015. It was 94. I have since backed off to 5 or 6 days a week.

I have never had a broken bone but the following paragraph from the Mayo Clinic site does kinda fit.

"In the early stages, you may have no osteomalacia symptoms, although signs of osteomalacia may be apparent on X-ray pictures or other diagnostic tests. As osteomalacia worsens, you may experience bone pain and muscle weakness. The dull, aching pain associated with osteomalacia most commonly affects the lower back, pelvis, hips, legs and ribs. The pain may be worse at night, or when you're putting weight on affected bones. Decreased muscle tone and leg weakness may cause a waddling gait and make it difficult for you to get around."

My wife's rheumatologist has a new bone density scanning machine in-office that he is mightly proud of. We might be able to get him to scan me.

Of course, another possibility is that there was a data error in 23andme's analysis. Does anyone know how reliable these things are ?

Thanks again.

 

[3Putt]

Out of curiosity, do you know how rare unlinked genes are?

I have an unlinked VDR Bsm and VDR Taq [VDR Bsm (+,+) and VDR Taq (+,-)] too and I'm trying to figure out if Vitamin D3 supplementation is good for me.

All my COMT genes are (-,-).

Thanks!

@inSeason, I am in the process of trying to ascertain the frequency and significance of unlinked VDR genes. No joy yet.

Regarding whether Vitamin D3 supplementation is good for you, I would encourage you to be tested. It is relatively inexpensive. In July 2012, at age 61, I decided to have my first ever test for Vitamin D, 25-Hydroxy. (It was 26 ng/mL in a reference range of 30.0-100.0). I started taking 5000 IU daily and re-tested in Jan 2015. It was 94. I have since backed off to 5 or 6 days a week.

In the years since starting D3 supplementation, I have had zero problems with colds, flu, bouts of my chronic bronchitis. This is saying a lot for me because having these problems were very common for me prior to this change.

Good luck to you. (Us rare VDR mutants have to stand together, right, brother ?)

 

[3Putt]

Also, for everyone, as I said in the original post...

"Any insight into my SNPs would be greatly, GREATLY appreciated."

 

[Valentijn]

Ok, so my VDR Bsm and VDR Taq are unlinked. Is my logic correct in that it appears that since 7 out of 8 were in the patient group, that may imply that I may have a problem with potential osteomalacia (rickets in adults) ?

At most it might be a risk factor. But due to the lack of specific research, even that is very speculative.

Of course, another possibility is that there was a data error in 23andme's analysis. Does anyone know how reliable these things are ?

They are extremely reliable ... over 99% if I recall correctly. There are only a few errors I've seen, and they basically show up the same for everyone. One is that a single rare SNP was reported as being homozygous for the rare version for literally everyone. Obviously it wasn't. Another issue is that people with the same maternal haplogroup had some identical no-call patterns in their mitochondrial DNA, so something odd going on there as well probably.