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VDR Taq, Vitamin D deficient - confused

alicec

Senior Member
Messages
1,572
Location
Australia
If you have any more suggestions re the snps I have, I'd be grateful

Actually it's the rs numbers that really define the SNP and make it easy to search for. The letter designation is an older form of description which does tell us something about the actual change in the variant but makes it difficult to find if you know nothing else about it.

Some of the letter descriptions have become familiar because of their popularisation by Yasko and they get discussed over and over again on the internet (often incorrectly), so I can identify some of your SNPs. However I would need to know the rs number to comment on many of them.

Here is a recent thread which canvassed various resources which can be helpful in understanding SNPs.

What I can say about the ones you list is as follows

The AGT variant is not very significant clinically, is associated with higher plasma angiotensin and higher bp, GG variant responds well to atenolol (I have that SNP but my notes are not very comprehensive and date from a time before I realised that most of the early association studies mean nothing - too small and inadequate statistics).

BHMT 08 little to no effect, CBS no effect.

PEMT rs7946 is a loss of function variant associated with non-alcoholic fatty liver disease. It definitely slows the formation of phosphatidyl choline though I haven't recorded by how much. OMIM would probably tell you. With +/+ you should definitely be ensuring there is plenty of choline in your diet and probably supplementing also - choline and/or PC.

Here, here, here, here and here are threads discussing some of the SNPs.

+/+ for the loss of function FUT2 variants definitely has an effect so you should check these out. They seem to have an adverse effect on gut microbiota as well as affecting B12.

I don't know the actual rs numbers but it could be that your combination of several +/+ for MTR and MTRR, possibly with FUT2 thrown in, is seriously impacting B12 metabolism and making a significant contribution to your pernicious anaemia.

I don't know about the TCN SNP but it is a cobalamin transporter so worth checking up also.

The best way around this may well be just what you are doing - topical B12 (both forms) - plus of course all the other things that support this and related pathways.
 

Athene*

Senior Member
Messages
386
Thanks so much, @alicec. This is so helpful. I'm using MeB12/ Adob12 oil mixture x 2 or 3 sprays daily, and folate and all the cofactors for related pathways - as you mention. However, I was worried about PEMT and wasn't sure what to do about it, so thanks again for this.

Interesting what you say about the bp - it went up quickly to 130-140/80, and occasionally 150/80 when on hydrocortisone 20-25mg daily and is now around 117-120/80 (where it used to always be), since I weaned off it.

Here are those rs numbers, just in case you see anything else, if you get a chance to look at them. Really appreciate this.

(relatively minor issue - I currently have the worst hay fever I've ever had. Also very allergic to dust and cats (and penicillin)).


+/+ ACE, rs4351

++ ACE, C19329T, rs4362

+/+ AGT M235T/C4072T, rs699

+/+ BHMT 08 C6457T, rs651852

+/+ CBS (A360A), rs1801181

+/+ DAO, rs3741775 (AC risk C; and AG risk G) - same rs mentioned twice in list with those two different risk factors, ++ with each mention). Someone said it's linked with schizophrenia, but none in family, though some of us are in different artistic professions (the rs seems to be linked to artists too!)

+/+ FUT2, rs492602, rs601338, rs602662

+/+ MTHFR (3 ++ in this list, including A1298C), rs1801131, rs17037390, rs4846049

+/+ MTRR (A66G, A664A, 524C>T), rs1801394, rs1802059, rs1532268,

+/+ Multiple MTR, rs2789352, rs10925250, rs3820571, rs12060570, rs3768142, rs2275566, rs10925235

+/+ PEMT, rs7946

+/+ SOD2, rs10370

+/+ TCN2 C766G, rs1801198

+/+ TH variants, rs2070762, rs6356

+/+ TPH2, rs4570625, rs17110747

+/+ VDR taq (as discussed), rs731236