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Need help pls interpreting Genetic Genie/Yasko results

Discussion in 'Genetic Testing and SNPs' started by Natalija, Feb 10, 2017.

  1. Natalija



    I am a newbie here and thankful to find this site with so much great information.
    I am hoping I can get some insight into my results below. I know combinations of SNPs are important and I'd appreciate any insight please. I did find the SNPs Interpretation Guide that Caledonia graciously put together. Thank you!

    To be brief, I am extremely chemically sensitive (MCS), have many food intolerances (very limited food choices), digestive issues, chronic very low intestinal sigA (no parasites or significant pathogens), leaky gut, chronically low in iron, frequent elevated liver enzymes, and so on.

    The specific issues I need help with ASAP:

    1. My serum B12 was extremely elevated (off the charts!) last time I was tested. So apparently, the methyl B12 1,000 daily I was taking was not being absorbed/utilized. So I stopped taking it a long time ago. :(
    It was recommended that I use Adeno B12 instead. There is only one pure ADeno B12 product I could find (on Amazon, anyway) from Seeking Health (Dr Ben Lynch's products) but they are 3,000 mg tablets. My feet have been tingling and I need to get back on the proper B12 ASAP.

    2. Can someone with MTHFR take something like MegaFood Blood Builder for iron deficiency anemia/low iron? It is food based, so no folic acid.

    3. Generally understanding my "family of SNP's"!

    Thank you! Any help is greatly appreciated!

    Thank you!

    My results:
    (Homogenous is in Bold)

    Detox Profile SNPs (Genetic Gene)
    CYP1B1 L432V +/-
    CYP1B1 N453S +/-
    CYP1B1 R48G +/-
    CYP2C9*2 C430T +/-
    CYP2D6 S486T +/-
    CYP2D6 100C>T +/-
    GSTP1 I 105V +/+
    GSTP1 A114V T +/-
    SOD2 A116V +/+
    NAT2 I114T +/-
    NAT2 K268R +/-

    Methylation Profile SNPs (Genetic Genie)
    VDR Taq +/+
    VDR Fok +/+ (
    Amy Yasko Methylation Pathway Analysis)
    MAO-A R297R ++
    MTHFR C677T +/-
    MTHFR A1298C +/-
    MTR A2756G +/-
    MTRR A66G +/+
    MTRR A664A +/+
    BHMT 2 +/+
    BHMT 8 +/+

    CBS C699T +/-
    Last edited: Feb 11, 2017
  2. Natalija


    Anyone?? Any insight is appreciated! Thanks! :)
  3. alicec

    alicec Senior Member

    Some of those detox SNPs may have an effect on enzyme activity but it is often combinations, rather than individual SNPs that are important, particularly for the CYPs and NAT2.

    If you run your 23andme results through Promethease or you will get a better analysis of the combinations. However 23andme doesn't always test enough SNPs to get clear results - eg for CYP 2D6.

    That GSTP1 SNPs do cause some slowing of the enzyme. They are fairly common and the effect does not seem to be great.

    There are some studies showing a small increase in risk for some inflammatory conditions such as asthma for the first SNP. There is also an interesting study on the effects of vit E supplementation. +/+ is beneficial. There is more info in this thread.

    Both SNPs are associated with a small increase in risk for cancer and there is some effect on response to anti-neoplastic drugs.

    There are conflicting reports about the SOD2 SNP - some say GG is detrimental, some that it is an advantage. In other words, there is not much consequence. Here is a thread discussing SOD2 SNPs.

    For the methylation SNPs, the two MTHFR SNPs do slightly slow the enzyme. If the SNPs are on opposite DNA strands (ie compound heterozygous, but it is not possible to know this since 23andme don't report it) it is possible that the effect could be more like +/+. Even if this is the case, the SNPs are extremely common - millions of people cope with the SNPs without problem.

    It would be wise to ensure adequate folate consumption to help compensate for the effect (diet and supplements).

    Here is a thread discussing MTHFR.

    The MTR and MTRR SNPs do have some effect and the combination exacerbates this. Again attention to B12 consumption would be wise. Here and here are threads.

    The remaining SNPs are of no consequence.

    There is no evidence that SNPs determine which form of B12 a person should take. You would need to experiment with forms to judge your own response. You may need to start low and build up slowly.

    I'm not familiar with the anaemia supplement. Why do you think MTHFR SNPs could be relevant to this?
    CedarHome and Valentijn like this.
  4. Natalija


    Thank you, Alicec.
    Yes, I am MTHFR compound heterzygous per a Specrtacell blood test that I did prior to 23andme.

    I was asking about the Mega Foods product as it contains food course B12 and folate. So I don't think it would cause issues as it is not synthetic. However I expect the B12 and folate portions would not be absorbed well due to my MTHFR mutations. I guess, I will just go for the straight up iron supplements.

    I am researching and finding that NAT2 SNPs are connected to Multiple Chemical Sensitivity (MCS), as is the combo of CYPD2 and NAT2.

    From Livewello: "NAT2 and CYP2D6 enzymes may interact together on exogenous chemicals or endogenous pathways to substantially increase risk for MCS beyond the risk that is observed for each gene alone.
    People with a high expression of two specific genes (CYP2D6 and NAT2) were 18 times more likely to have MCS than those without."
    Yup, I've got two of each. Plus more connected to MCS. So much to learn!
    I did run my data through Promethease. Any input on the Sterling app from
    I still have to learn the basics on what the minor allelle means and the G, C, T, etc. Feel like I need to go back to school!

    I will look at the links you included. Thank you so much!
    Paralee likes this.
  5. alicec

    alicec Senior Member

    The MTHFR SNPs slow the activity of the enzyme - ie slow the production of methylfolate. They shouldn't have any effect on absorption of either B12 or folate.

    Just having SNPs on these two enzymes doesn't mean that the activity of the enzymes is affected. It entirely depends what the SNPs are. You would need to check carefully to see if the ones you have are the ones referred to in the MCS studies from which the statement was derived.

    Since the statement came from Livewello (which is not always correct), you should be able to find a reference to track down the SNPs.

    That should tell you if you are a NAT2 fast metaboliser, which I think is what the Livewello statement is getting at. With CYP2D6 it is harder to know because 23andme don't test all the relevant SNPs.

    The diagrams are quite helpful in understanding where the various enzymes affected by the SNPs fit in to broader metabolic pathways.

    Some SNPs identified are linked to research but many are not so it is difficult to know why they are being identified. You need to understand that just because a variant is present in itself doesn't mean much. Many variants have no effect. A few have very serious consequences, some have small effects.

    MTHFRsupport seems to have gone the quantity rather than quality route. It looks impressive to see a whole lot of variants tested but it is only the ones which actually do something that are relevant. You need to look carefully at the research associated with each SNP to understand if it has any consequence.
    CedarHome, Valentijn and TrixieStix like this.
  6. Basilico

    Basilico Florida

    I can't offer insight into the SNPs but I can make a suggestion about iron. I've had extremely low ferritin (11) and anemia for many years and I've had really good results using Solgar gentle iron (iron bisglycinate). The most important thing is to take it with vitamin C since ascorbic acid increases iron absorption, and to avoid taking it with the things that inhibit iron absorption (dairy, coffee).

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