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My 23andMe results – help please

Discussion in 'Genetic Testing and SNPs' started by Bee, Jul 21, 2014.

  1. Bee

    Bee

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    London, UK
    I've received my 23andMe results, and ran them through GeneticGenie (methylation and detox).

    I'm new to this, so I need help to understand the implications of these mutations. It's critical for me to understand my results -- I've had severe neurological symptoms, and I hope that genetics will explain my condition.

    Can anybody help with this, please? @caledonia, @Sea, @Valentijn – sorry to impose on you, but I noticed in the forum that you are very knowledgeable on genetics. I will be grateful if you can share your insights & recommendations.

    (Image files attached -- may be easier to read than text). Thank you very much!!

    METHYLATION:
    COMT V158M rs4680 AG +/-
    COMT H62H rs4633 CT +/-
    COMT P199P rs769224 AG +/-

    VDR Bsm rs1544410 TT +/+
    VDR Taq rs731236 GG -/-
    MAO A R297R rs6323 TT +/+
    ACAT1-02 rs3741049 GG -/-
    MTHFR C677T rs1801133 AA +/+
    MTHFR 03 P39P rs2066470 GG -/-
    MTHFR A1298C rs1801131 TT -/-
    MTR A2756G rs1805087 AA -/-
    MTRR A66G rs1801394 AA -/-
    MTRR H595Y not found n/a n/a
    MTRR K350A rs162036 AA -/-
    MTRR R415T not found n/a n/a
    MTRR A664A rs1802059 AG +/-
    BHMT-02 rs567754 CC -/-
    BHMT-04 not found n/a n/a
    BHMT-08 rs651852 CT +/-
    AHCY-01 rs819147 TT -/-
    AHCY-02 not found n/a n/a
    AHCY-19 rs819171 TT -/-
    CBS C699T rs234706 AG +/-
    CBS A360A rs1801181 GG -/-
    CBS N212N not found n/a n/a
    SHMT1 C1420T not found n/a n/a

    DETOX:
    CYP1A1*2C A4889G rs1048943 TT -/-
    CYP1A1 m3 T3205C rs4986883 TT -/-
    CYP1A1 C2453A rs1799814 GG -/-
    CYP1A2 164A>C rs762551 CC +/+
    CYP1B1 L432V rs1056836 GG +/+

    CYP1B1 N453S rs1800440 TT -/-
    CYP1B1 R48G rs10012 CC +/+
    CYP2A6*2 1799T>A rs1801272 AA -/-
    CYP2A6*20 rs28399444 II -/-
    CYP2C9*2 C430T rs1799853 CC -/-
    CYP2C9*3 A1075C rs1057910 AC +/-
    CYP2C19*17 rs12248560 CC -/-
    CYP2D6 S486T rs1135840 CC -/-
    CYP2D6 100C>T rs1065852 GG -/-
    CYP2D6 2850C>T rs16947 GG -/-
    CYP2E1*1B 9896C>G rs2070676 CG +/-
    CYP2E1*1B 10023G>A rs55897648 GG -/-
    CYP2E1*4 4768G>A rs6413419 GG -/-
    CYP3A4*1B rs2740574 TT -/-
    CYP3A4*2 S222P rs55785340 AA -/-
    CYP3A4*3 M445T rs4986910 AA -/-
    CYP3A4*16 T185S rs12721627 GG -/-
    GSTP1 I105V rs1695 AG +/-
    GSTP1 A114V rs1138272 CC -/-
    SOD2 A16V rs4880 AG +/-
    NAT1 R187Q rs4986782 GG -/-
    NAT1 R64W rs1805158 CC -/-
    NAT2 I114T rs1801280 CT +/-
    NAT2 R197Q rs1799930 GG -/-
    NAT2 G286E rs1799931 GG -/-
    NAT2 R64Q rs1801279 GG -/-
    NAT2 K268R rs1208 AG +/-

    GSTT1 Present

    Attached Files:

    Last edited: Jul 21, 2014
  2. caledonia

    caledonia

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    Cincinnati, OH, USA
    Hi Bee, if you're willing to be my guinea pig, I've been working on a document to help people interpret their results. I will post it when I'm done. Might be a few days?
    TheGrandWazoo, Bee and AndyPandy like this.
  3. Bee

    Bee

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    London, UK
    Hi @caledonia, thank you for your reply! Yes of course, I would love to be a guinea pig for your new document. I look forward to reading it! It's very kind of you to write up your knowledge to help people.

    I have a doctor appointment next Thursday (31st), and one specific question I have before that is: based on my genetic results, which functional tests should I request from him? Do I need to measure my homocysteine, ammonia, something else? And which tests are reliable?

    I don't know if your document covers this, but it will be very helpful to have some knowledge on functional tests. Thank you very much!
  4. caledonia

    caledonia

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    Cincinnati, OH, USA
    If you can afford it, the Nutreval test is a great functional test to do. It's a half dozen or so tests all rolled into one. Then intrepret it with the Nutreval Interpretation Guide linked in my signature.
    Bee likes this.
  5. Bee

    Bee

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    London, UK
    Thanks, @caledonia! I've just done the organic acids urine test (Great Plains Lab); I will check to see if that has some of the Nutreval markers. Obviously the Nutreval includes a lot of other information too.

    Looking forward to reading your document when it's ready.
  6. caledonia

    caledonia

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    Cincinnati, OH, USA
    Question - would you rather have two separate documents, one for Methylation SNPs and one for Detox SNPs or one big one with both together? Each one is about three pages right now.
  7. Bee

    Bee

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    London, UK
    I vote for one document, definitely. I feel it's best to have it in one place. And it doesn't sound like the document will be long or unwieldy :)
  8. TheGrandWazoo

    TheGrandWazoo

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    Hi Bee, I see you have multiple COMT and a MAOA mutations like me. Do you find it difficult winding down sometimes? I'm finding L-theanine helpful for this.
    Last edited: Jul 26, 2014
    sueami likes this.
  9. Bee

    Bee

    Messages:
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    Likes:
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    London, UK
    Hi TheGrandWazoo, thanks for your reply. I haven't had a chance to read about the COMT and MAOA mutations, so I didn't know their effect. Being new to this, mostly I've been trying to understand my mutations of CBS and MTHFR. So far that is keeping me very busy!

    Thanks for the tip on L-theanine. I've had symptoms of anxiety and feeling extremely "jittery" and unable to wind down, but I thought that was due to my copper toxicity. I have severe copper toxicity (which I've been treating gradually for seven months), and it can cause a very hopped-up, overstimulated feeling. This feeling has improved a bit, but copper is probably not the only cause.

    How did you come across the info about L-theanine for those mutations?

    Also, I see that you have the CBS mutation too. I think this is causing big problems in my case; have you been addressing that also?
  10. sueami

    sueami Senior Member

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    Front Range Colorado
    I noticed your MAO A and COMT mutations as well, Bee. I had *a lot* of anxiety/slippery mood issues when I was starting up methylation. It calmed down significantly when I went on vacation, which was very stressful for me energywise but somehow reset me neurochemically.

    I've had some small return of anxiety/mood issues since being back from vacation, but not much. I appreciate that L-theanine tip, Wazoo!
  11. TheGrandWazoo

    TheGrandWazoo

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    I haven't gotten around to testing CBS expression with sulfate strips. Are you taking Methyl-B12 and Methylfolate for your MTHFR C677T mutation at this point?

    There's a link in Caledonias sig - Detoxigenomics. It contains useful info about the detox part. You can also find info on wikipedia for each gene.
    Last edited: Jul 27, 2014
  12. Bee

    Bee

    Messages:
    10
    Likes:
    2
    London, UK
    Thanks for that info, TheGrandWazoo and sueami. It sounds like those SNPs are more important than I thought. As I said, so far I've just been trying to understand the CBS and MTHFR mutations.

    I'm not yet treating my MTHFR mutation. From what I've read, it's important to treat the CBS mutation first (before attempting to treat MTHFR), if the CBS mutation is being expressed. And my symptoms very much indicate that CBS is being expressed. I'm going to a doctor this Thurs and will ask for tests to check my ammonia & sulfites. Will also try to get the urine sulfate strips delivered to me in the UK.

    Thanks for the pointer to the Detoxigenomics link in caledonia's signature. That helps. I'll also try to read more about these genes in SNPedia.

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