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Genetic Genie Results

Discussion in 'Genetic Testing and SNPs' started by Stumped, Aug 3, 2015.

  1. Stumped

    Stumped

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    I have been digging around trying to find information about mutations. Every time I do a search...this website pops up. I have been looking around the site and reading as much as I can but I am still so confused. I dont know which ones are an issue and which ones should be treated. I was hoping someone here might be able to tell me something about my results and/or direct me to the best resources. Here are my results:

    You have 2 heterozygous (yellow) mutation(s). These are generally not as bad as red homozygous mutation, but they may still worth paying attention to. They include:
    MTHFR C677T
    MTHFR A1298C
    Here are your homozygous mutations as indicated in your SNP gene table above (not including MTHFR):
    VDR Taq
    MTRR A66G
    BHMT-08
    Here are your heterozygous mutations as indicated in your SNP gene table above (not including MTHFR):
    COMT V158M
    MAO-A R297R
    ACAT1-02
    MTR A2756G
    MTRR A664A
    BHMT-02
     
  2. Critterina

    Critterina Senior Member

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    Arizona, USA
    Hi @Stumped ,

    You're in good company here - most of us were stumped at one time, and some of us still are! I found this website the same way you did, trying to figure out what certain SNPs mean, and it kept popping up. At one point, I just had to ask a question.

    You'll find here that there is still a lot of debate (a lot of it healthy) as to what the SNPs mean and what to do about them, if anything. I find the best source for doing research is the national center for biotechnology information (ncbi) in the national library of medicine, part of the national institutes of health - your tax dollars at work (at least if you pay US taxes). The published articles contain a wealth of information, on humans, microbes, and other species - because federal funded research has a 'data sharing' requirement, and this is one of the most useful ways for researchers to share research. That said, it's all very technical, but it is probably the most reliable information we've got going. So, it's a good thing anytime you find a reference to a website that starts www.ncbi.nlm.nih.gov

    So here is just a general overview (without any of the ncbi references) of the SNPs that there is more concensus on.

    What I see in your genome is that you have one each of the two most popular MTHFR mutation. You probably can't tell if they are on the same strand of DNA (desireable) or one on each strand (not so desirable - at least according to Dr. Neil Rawlins.) The supplement associated with treating either of them is methylfolate, also sold as "folate" "Metafolin(r)" "quatrefolic" and some other things, but not folic acid.

    Of your next set of SNPs, the MTRR A66G is probably the most significant. It activates vitamin B12 (most blood tests don't distinguish between active and inactive, so you can't tell from blood tests), and functional deficiency is associated with, among other things, non-diabetic peripheral neuropathy. Sublingual or injections of methylcobalamin are associated with that.

    The VDR is your vitamin D receptor. If you're concerned, get your vitamin D level checked and manage it to your doctor's target range. For me, with the same SNPs, my practitioner wanted me at about the midpoint of the normal range, or so I gathered from our conversations.

    Hard to say if any of your other hetero SNPs are worth looking into. Some people believe that the COMT mutations can predispose people to overreact to a class of compounds called methyl donors. These include supplements that start with the word "methyl" or methionine, SAMe, and others. I think that there are so many other SNPs and environmental factors going on in each person that it's probably hard to predict.

    One thing you should know about this forum is that it has rules, the first of which, in my mind, is that we don't criticize people, tell them that they are wrong, or tell them what to do. We (me and most of the others) are not medical professionals, so we have no place doing that. If people get out of line, there are moderators who will help you out.

    And another thing to keep in mind, is that SNPs only tell part of the story. You have your story (which I think of as including your healthy history, environment, lifestyle), and you have your symptoms, and you have your lab results. All of them contribute to what's going on, and to what, if anything, you should do about it. Nobody knows this stuff like your doctor, and any advice that doesn't take it all into account is risky advice. So, it's good to have a medical professional who is conversant in these things and can help you.

    Well, that's enough for now. Welcome to the forum. I hope you get as much help here as I did.

    Critterina
     
    AndyPandy, Thinktank and Hutan like this.
  3. Stumped

    Stumped

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    Critterina-
    Thank you so very much for your response! It is very helpful and I appreciate the information about the community. I have quite a bit of research to do and want to be prepared before I walk into my doctors office.
     

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