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MCAS and ?? 23andme results

Discussion in 'Genetic Testing and SNPs' started by mainuhgrl, Jan 28, 2015.

  1. mainuhgrl


    Boston, MA
    Would someone be willing to offer me an opinion on my 23andme results? I am trying to determine if any of my homogeneous mutations below might be a major concern:

    CETP rs1800775 (+/+)
    CYP4V2 rs13146272 (+/+)
    F10 rs3211719 (+/+)
    HRG rs9898 (+/+)
    HORMAD2 rs2412971 (+/+)
    IFIH1 rs1990760 (+/+)
    FCER1A rs2251746 (+/+)
    IL5 rs2069812 (+/+)
    BHMT-08 rs651852 (+/+)
    GAD1 rs3791851 (+/+)
    GAD1 rs3791878 (+/+)
    GAD1 rs701492 (+/+)
    GAD1 rs769407 (+/+)
    VDR Taq rs731236 (+/+)
    MAO A R297R rs6323 (+/+)
    MTHFS rs6495446 (+/+)
    MTHFD1L rs17349743 (+/+)
    MTHFD1L rs6922269 (+/+)
    SOD2 rs2758331 (+/+)
    SOD2 A16V rs4880 (+/+)
    SOD3 rs2855262 (+/+)
    PEMT rs7946 (+/+)
    SHMT2 rs34095989 (+/+)
    TCN2 rs1801198 (+/+)
    NDUFS7 rs1142530 (+/+)
    NDUFS7 rs2332496 (+/+)
    NDUFS7 rs7258846 (+/+)
    NDUFS8 rs1051806 (+/+)
    SLC19A1 rs1051266 (+/+)

    The list of my heterogeneous results goes on forever, but the ones that seem to relate to MTHFR are COMT V158M, COMT H62H, MTR A2756G, MTRR A66G, MTRR A664A, and CBS A360A.

    I was diagnosed back in the Spring with Mast Cell Activation Syndrome and I suspect either a particularly bad bout of mono or a 'lyme-like' virus somehow reduced the effectiveness of the MTHFR gene, causing me to have the issues with histamine, folate regulated DNA synthesis and BH4 generation, that I am experiencing. I just can’t seem to understand how best to prioritize the above though, in order to discuss at an upcoming appt. with my immunologist.

    Thank you!
  2. taniaaust1

    taniaaust1 Senior Member

    Sth Australia
    Immunologist is unlikely to be up with the genetic mutation stuff.

    Sorry I cant think of where it is right now but maybe someone else can give you the link to it but there is a illness/genetic webite which one types in whatever illness you want and it comes up with the most mutations found in that illness. eg Mastocytosis is on it (I know that as I looked up the common genetic mutations found in mastocytosis there in the past). *Mastocytosis is a severe mast cell disorder of too many mast cells.

    There is actually one mutation in which one will get a diagnoses of Mastocytosis for if one has it. (I didnt have that one but my mastocytosis uncle does.. I did thou find I have at least one homo mutation which is commonly found in mastocytosis).

    I think you'd have a lot more homo mutations then that. When I stuck my 23andME results into the program that Valentjin has done to show the more uncommon ones a person has... (I suggest for you to get the link to do that from someone here), it came up with something like more then 13 pages of those mutations.
    Valentijn likes this.
  3. Valentijn

    Valentijn Senior Member

    @mainuhgrl - The downloadable program is at http://sourceforge.net/projects/analyzemygenes/ . It makes a list of your very rare 23andMe results, and then you can look them up to see if they're known to be problematic mutations, or at least see which gene they're on.
    taniaaust1 likes this.

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