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Help with DNA Results

Messages
9
Location
Durham City, UK
Hi everyone, just got my results from 23 and me and any help would be appreciated

COMT V158M rs4680 AA
COMT H62H rs4633 TT
COMT P199P rs769224 GG
VDR Bsm rs1544410 TT
VDR Taq rs731236 AG
MAO A R297R rs6323 T
ACAT1-02 rs3741049 AG
MTHFR C677T rs1801133 AG
MTHFR 03 P39P rs2066470 GG
MTHFR A1298C rs1801131 GT
MTR A2756G rs1805087 AA
MTRR A66G rs1801394 AG
MTRR H595Y rs10380 CT
MTRR K350A rs162036 AG
MTRR R415T rs2287780 CC
MTRR A664A rs1802059 AG
BHMT-02 rs567754 CT
BHMT-04 rs617219 AC
BHMT-08 rs651852 CT
AHCY-01 rs819147 TT
AHCY-02 rs819134 AA
AHCY-19 rs819171 TT
CBS C699T rs234706 AG
CBS A360A rs1801181 GG
CBS N212N rs2298758 GG
SHMT1 C1420T rs1979277 GG

Thanks
Raymond
 
Messages
15,786
COMT V158M rs4680 AA
COMT H62H rs4633 TT
VDR Bsm rs1544410 TT
VDR Taq rs731236 AG
MAO A R297R rs6323 T
ACAT1-02 rs3741049 AG
MTHFR C677T rs1801133 AG
MTHFR A1298C rs1801131 GT
MTRR A66G rs1801394 AG
MTRR H595Y rs10380 CT
MTRR K350A rs162036 AG
MTRR A664A rs1802059 AG
BHMT-02 rs567754 CT
BHMT-04 rs617219 AC
BHMT-08 rs651852 CT
CBS C699T rs234706 AG
I deleted the "normal" results. The irrelevant results with no research supporting them are crossed out. I think you've made a typo on your VDR results, since VDR Bsm and VDR Taq should give the same result (albeit in reverse). Can you clarify what those results are?

You have the slower versions of COMT and MAOA. This means you break down certain neurotransmitters slowly. Hence supplementing much of something with methyl groups could be a bad idea.

Having the two heterozygous MTHFR versions can mean that your methylfolate production is functioning at about 30% of normal. Hence supplementing a normal dose of methylfolate is probably a very good idea.

The three MTRR versions you have might or might not impact things when heterozygous. If they do, then they indicate a possible elevation of homocysteine and a need for B12. Due to the methyl issue you might have, hydroxoB12 is probably a safer option than methylB12.

BHMT can also result in increased homocysteine due to one pathway being slower.

CBS might result in slightly lower homocysteine due to another pathway being marginally faster.

SUMMARY:
You probably need methylfolate, but anything more than a normal dose should be undertaken with extreme caution. HydroxoB12 might be helpful in general, and might help with the potentially elevated homocysteine. It might be a good idea to get your actual homocysteine levels tested, since it's associated with some nasty medical problems when chronically elevated.
 
Messages
9
Location
Durham City, UK
Thanks for that. I have checked the Vdr results and they are correct. VDR dsm AG,VDR taq TT. Could this be a mistake by 23andMe?

Much appreciated
Raymond
 
Messages
15,786
Thanks for that. I have checked the Vdr results and they are correct. VDR dsm AG,VDR taq TT. Could this be a mistake by 23andMe?
Possibly, thought that's pretty uncommon. It's also possible that you've got some weird mutant genetic action going on :D I'll see if I can find out anything about linkage disequilibrium for those SNPs.
 

Phred

Senior Member
Messages
141
Possibly, thought that's pretty uncommon. It's also possible that you've got some weird mutant genetic action going on :D I'll see if I can find out anything about linkage disequilibrium for those SNPs.

Both my husband and daughter have that too, except the opposite way. VDR Bsm ++ and VDR Taq +-. I find they can be genetic mutants at times ;).
 
Messages
15,786
Both my husband and daughter have that too, except the opposite way. VDR Bsm ++ and VDR Taq +-. I find they can be genetic mutants at times ;).
Well, basically it should mean that there's either no problem with the VDR (Bsm +/+ is the good version), or there's a mild problem with it due to heterozygous Taq. But either way, you shouldn't be particularly slow in producing dopamine.
 

Phred

Senior Member
Messages
141
I don't think my husband has a problem with dopamine, but I am concerned about my daughter. She's:
COMT V158M ++
COMT H62H ++
MAO A R297R ++

I have those three as well. There are issues with depression. It's quite prevalent on my side of the family.
 
Messages
15,786
Ray B and Phred
I finally found a study where some similar issues are present where Bsm and Taq don't match - but even though three out of four possible permutations (CT AA, CT GG, CC AG) were mentioned, no one had Ray's! It sounds like these sorts of mixed results might be slightly more common for non-caucasians, but even then are pretty rare.

But if comparing the people with mixed Bsm-Taq results to people with consistant Bsm-Taq results, the mixed results were much more highly associated with VDR dysfunction (Vitamin D resistant rickets). 7 carriers and 1 control had mixed results, compared to 13 carriers and 40 controls with consistent results.

The study is at www.researchgate.net/publication/6691933_Vitamin_D_receptor_polymorphisms_in_hypocalcemic_vitamin_D-resistant_rickets_carriers/file/79e41500e3712b4614.pdf
 

caledonia

Senior Member
Hi everyone, just got my results from 23 and me and any help would be appreciated

COMT V158M rs4680 AA
COMT H62H rs4633 TT
COMT P199P rs769224 GG
VDR Bsm rs1544410 TT
VDR Taq rs731236 AG
MAO A R297R rs6323 T
ACAT1-02 rs3741049 AG
MTHFR C677T rs1801133 AG
MTHFR 03 P39P rs2066470 GG
MTHFR A1298C rs1801131 GT
MTR A2756G rs1805087 AA
MTRR A66G rs1801394 AG
MTRR H595Y rs10380 CT
MTRR K350A rs162036 AG
MTRR R415T rs2287780 CC
MTRR A664A rs1802059 AG
BHMT-02 rs567754 CT
BHMT-04 rs617219 AC
BHMT-08 rs651852 CT
AHCY-01 rs819147 TT
AHCY-02 rs819134 AA
AHCY-19 rs819171 TT
CBS C699T rs234706 AG
CBS A360A rs1801181 GG
CBS N212N rs2298758 GG
SHMT1 C1420T rs1979277 GG

Thanks
Raymond

If you run it through geneticgenie.org, so it's translated into Yasko form, I can comment. My comments will be somewhat different than Valentijn's.
 

Phred

Senior Member
Messages
141
Ray B and Phred
I finally found a study where some similar issues are present where Bsm and Taq don't match - but even though three out of four possible permutations (CT AA, CT GG, CC AG) were mentioned, no one had Ray's! It sounds like these sorts of mixed results might be slightly more common for non-caucasians, but even then are pretty rare.

But if comparing the people with mixed Bsm-Taq results to people with consistant Bsm-Taq results, the mixed results were much more highly associated with VDR dysfunction (Vitamin D resistant rickets). 7 carriers and 1 control had mixed results, compared to 13 carriers and 40 controls with consistent results.

The study is at www.researchgate.net/publication/6691933_Vitamin_D_receptor_polymorphisms_in_hypocalcemic_vitamin_D-resistant_rickets_carriers/file/79e41500e3712b4614.pdf
[/quote]

Thanks for doing the leg work Valentijn. So should Ray B, my husband and daughter all be taking extra vitamin D?
 
Messages
9
Location
Durham City, UK
I finally found a study where some similar issues are present where Bsm and Taq don't match - but even though three out of four possible permutations (CT AA, CT GG, CC AG) were mentioned, no one had Ray's! It sounds like these sorts of mixed results might be slightly more common for non-caucasians, but even then are pretty rare.
I'm as Caucasian as they come. Maternal line is from the vikings and my paternal line is from Ireland. Still live in England. Not sure where to go from here. Only other defect I have found in on the ddr2 gene but thats why I used to like smoking so much until my daughter lectured me every day on how bad it is for you.

Thanks again
 
Messages
15,786
Thanks for doing the leg work Valentijn. So should Ray B, my husband and daughter all be taking extra vitamin D?
Vitamin D might or might not help - the problem is that the receptors that should get triggered by Vitamin D might be dysfunctional. A way to check for whether it's having an impact is via calcium levels, since VDR is required for calcium absorption.
 
Messages
9
Location
Durham City, UK
COMT V158M rs4680 AA +/+
COMT H62H rs4633 TT +/+
COMT P199P rs769224 GG -/-
VDR Bsm rs1544410 TT +/+
VDR Taq rs731236 AG +/-
MAO A R297R rs6323 T +/+
ACAT1-02 rs3741049 AG +/-
MTHFR C677T rs1801133 AG +/-
MTHFR 03 P39P rs2066470 GG -/-
MTHFR A1298C rs1801131 GT +/-
MTR A2756G rs1805087 AA -/-
MTRR A66G rs1801394 AG +/-
MTRR H595Y rs10380 CT +/-
MTRR K350A rs162036 AG +/-
MTRR R415T rs2287780 CC -/-
MTRR A664A rs1802059 AG +/-
BHMT-02 rs567754 CT +/-
BHMT-04 rs617219 AC +/-
BHMT-08 rs651852 CT +/-
AHCY-01 rs819147 TT -/-
AHCY-02 rs819134 AA -/-
AHCY-19 rs819171 TT -/-
CBS C699T rs234706 AG +/-
CBS A360A rs1801181 GG -/-
CBS N212N rs2298758 GG -/-
SHMT1 C1420T rs1979277 GG -/-
 
Messages
15,786
COMT V158M rs4680 AA +/+
COMT H62H rs4633 TT +/+
VDR Bsm rs1544410 TT +/+
VDR Taq rs731236 AG +/-
MAO A R297R rs6323 T +/+
ACAT1-02 rs3741049 AG +/-
MTHFR C677T rs1801133 AG +/-
MTHFR A1298C rs1801131 GT +/-
MTRR A66G rs1801394 AG +/-
MTRR H595Y rs10380 CT +/-
MTRR K350A rs162036 AG +/-
MTRR A664A rs1802059 AG +/-
BHMT-02 rs567754 CT +/-
BHMT-04 rs617219 AC +/-
BHMT-08 rs651852 CT +/-
CBS C699T rs234706 AG +/-
We already discussed your interesting VDR issue on another thread, so I'lll skip to the other stuff :p

I deleted the "normal" results and crossed out the SNPs which aren't shown to have any impact on the functioning of their respective genes.

You've got the slow versions of MAOA and COMT, so you're breaking down serotonin, dopamine, norepinephrine, and epinephrine slowly. This could be a good thing, since your VDR might be very slow as well in producing dopamine (which then turn into norepinephrine, then epinephrine).

Being heterozygous for those two MTHFR SNPs indicates that your methylfolate production is at about 30% of normal. Hence methylfolate supplementation may be very helpful.

The MTRR SNPs may be resulting in elevated homocysteine, which can be addressed via B12 supplementation. Due to your slow COMT and MAOA, hydroxoB12 might cause less problems than methylB12 would.

BHMT-08 can result in slightly elevated homocysteine, but CBTS C699T gets rid of homocysteine a little bit faster via another pathway. Due to the combined effectts of the MTRR SNPs and BHMT-08, it might be a good idea to keep an eye on your homocysteine levels.

SUMMARY:
Methylfolate supplementation may be very helpful, and hydroxoB12 supplementation is also indicated. Testing your calcium levels to get an idea of the impact that your VDR is having may be a very good idea, and testing your homocysteine could also be useful, since chronically elevated homocysteine has some nasty risks associated with it.
 

caledonia

Senior Member
COMT V158M rs4680 AA +/+
COMT H62H rs4633 TT +/+
COMT P199P rs769224 GG -/-
VDR Bsm rs1544410 TT +/+
VDR Taq rs731236 AG +/-
MAO A R297R rs6323 T +/+
ACAT1-02 rs3741049 AG +/-
MTHFR C677T rs1801133 AG +/-
MTHFR 03 P39P rs2066470 GG -/-
MTHFR A1298C rs1801131 GT +/-
MTR A2756G rs1805087 AA -/-
MTRR A66G rs1801394 AG +/-
MTRR H595Y rs10380 CT +/-
MTRR K350A rs162036 AG +/-
MTRR R415T rs2287780 CC -/-
MTRR A664A rs1802059 AG +/-
BHMT-02 rs567754 CT +/-
BHMT-04 rs617219 AC +/-
BHMT-08 rs651852 CT +/-
AHCY-01 rs819147 TT -/-
AHCY-02 rs819134 AA -/-
AHCY-19 rs819171 TT -/-
CBS C699T rs234706 AG +/-
CBS A360A rs1801181 GG -/-
CBS N212N rs2298758 GG -/-
SHMT1 C1420T rs1979277 GG -/-

You have two First Priority mutations, which are ACAT and CBS. ACAT is one of the "leaky gut" genes. If you have food allergies and sensitivities, or if you start methylation and get a high need for potassium and/or magnesium, you have leaky gut, and should stop and treat that first. The other thing that ACAT can cause if expressed, is kidney stones. Yasko has a super duper all in one supplement for ACAT that also includes BHMT, which you also have. So that one would be appropriate in your situation. It's kind of expensive though. You may be able to get away with taking ox bile (bile salts) and doing a low oxalate diet.

The next mutation to address is CBS. First you'll want to see if it's expressed. Problems with sulfur foods or meds, or problems with a stress/anxiety/cortisol response when you start methyl supplements is a clue that this is expressed. You can do testing to see if ammonia and/or urine sulfate are high. Most people opt to just do the urine sulfate strips to save money. So, if this is expressed, you'll need to do a low free thiol diet, and take supps to lower ammonia and sulfate for a couple of months. Heartfixer has an excellent CBS protocol which I used successfully (except I did the Free Thiol diet, and didn't take any of Yasko's RNAs).

All of this preparation may take many months, so you're going to need a lot of patience. Finally, then you're ready to start on methylation supplements. You have two MTHFR mutations, so definitely supplement with methylfolate. You have a lot of MTRR (B12 recycling) mutations, so you'll need some B12. You have BHMT mutations (secondary methylation pathway), so some TMG (trimethylgylcine) for that.

With COMT V158M +/+ and VDR Taq +/-, Yasko suggests hydroxycobalamin and adenosylcobalamin. In other words, methylcobalamin is likely to cause mood swings, so stay away from that.

VDR Bsm is the Vitamin D Receptor which is +/+, so it's likely to be low. Get your vitamin D levels checked and supplement with that if necessary.

With MAO +/+ it's likely you'll have some mental health issues. You can supplement with 5htp to boost serotonin. Just getting methylation going again will make neurotransmitters, so this alone might be sufficient.

Note: If you're already on an SSRI or other similar psych med, don't take serotonin supplements at the same time. At some point, when you have methylation going and are making neurotransmitters again, and have GABA and glutamate balanced and so forth, you can very gradually start to wean off any psych meds. See the Paxil Progress forum for more info on how to do this properly. If you come off too fast (which will be any schedule a doctor will give you, you can get into a horrible withdrawal syndrome and have to go back on the med - speaking from personal experience here. I lost a whole year getting messed up with this.)

Finally, read/watch all the links in my signature, and try to get a good handle on things before diving in. Take each SNP one at a time in order, so you don't get overwhelmed. As Yasko is fond of saying, this is a marathon, not a sprint.
 
Messages
15,786
With MAO +/+ it's likely you'll have some mental health issues. You can supplement with 5htp to boost serotonin. Just getting methylation going again will make neurotransmitters, so this alone might be sufficient.
66% of the population has +/+. I doubt it indicates that mental health problems are "likely".
 
Messages
9
Location
Durham City, UK
Thanks again everyone for your help.

I am arranging blood tests for next week for the following:
Homocysteine and calcium. The also throw in the following, Full Haemtology, electrolytes, kidney function, liver, uric acid, glucose, full lipid, Iron status panel, basic thyroid, Vitamin D,B12,Ferratin, Folate and CRP.
Any Ideas on anything else would be appreciated.

As far as medicine goes I only take Fish oil and a Solgar VM75 a couple of times a week.

Thanks
Raymond