Professor & patients' paper on the solvable biological challenge of ME/CFS: reader-friendly version
Simon McGrath provides a patient-friendly version of a peer-reviewed paper which highlights some of the most promising biomedical research on ME/CFS ...
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Help with interpreting please!

Discussion in 'Genetic Testing and SNPs' started by sydneyladybird, Oct 17, 2013.

  1. sydneyladybird


    Yes another one :)
    I know I am homozygous MTHFR C677T, beyond that I have absolutely no idea of the meanings and implications of the rest of this. I would really appreciate any tips, and any thoughts on what I should be especially avoiding/looking to support and supplement/how. Many thanks!

    Gene & Variation
    Gene & Variation rsID Alleles Result
    CYP1A1*2C A4889G rs1048943 TT -/-
    CYP1A1 m3 T3205C rs4986883 TT -/-
    CYP1A1 C2453A rs1799814 GG -/-
    CYP1A2 164A>C rs762551 AC +/-
    CYP1B1 L432V rs1056836 CG +/-
    CYP1B1 N453S rs1800440 TT -/-
    CYP1B1 R48G rs10012 -- no call
    CYP2A6*2 1799T>A rs1801272 AA -/-
    CYP2A6*20 rs28399444 II -/-
    CYP2C9*2 C430T rs1799853 CC -/-
    CYP2C9*3 A1075C rs105791! 0 AA -/-
    CYP2C19*17 rs12248560 CC -/-
    CYP2D6 S486T rs1135840 CG +/-
    CYP2D6 100C>T rs1065852 AG +/-
    CYP2D6 2850C>T rs16947 GG -/-
    CYP2E1*1B 9896C>G rs2070676 CC -/-
    CYP2E1*1B 10023G>A rs55897648 GG -/-
    CYP2E1*4 4768G>A rs6413419 GG -/-
    CYP3A4*1B rs2740574 CT +/-
    CYP3A4*2 S222P rs55785340 AA -/-
    CYP3A4*3 M445T rs4986910 AA -/-
    CYP3A4*16 T185S rs12721627 GG -/-
    GSTP1 I105V rs1695 AA -/-
    GSTP1 A114V rs1138272 CC -/-
    SOD2 A16V rs4880 GG +/+
    NAT1 R187Q rs4986782 GG -/-
    NAT1 R64W rs1805158 CC -/-
    NAT2 I114T rs1801280 TT -/-
    NAT2 R197Q rs1799930 GG -/-
    NAT2! G286E rs1799931 GG -/-
    NAT2 R64Q rs1801279 GG -/-
    NAT2 K268R rs1208 AA -/-
    Gene Result
    GSTT1 Absent*
    Gene & Variation rsID Alleles Result
    COMT V158M rs4680 GG -/-
    COMT H62H rs4633 CC -/-
    COMT P199P rs769224 GG -/-
    VDR Bsm rs1544410 CT +/-
    VDR Taq rs731236 AG +/-
    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 AG +/-
    MTRR A66G rs1801394 AA -/-
    MTRR H595Y rs10380 CT +/-
    MTRR K350A rs162036 AG +/-
    MTRR R415T rs2287780 CC -/-
    MTRR A664A rs1802059 GG -/-
    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
  2. Valentijn

    Valentijn Senior Member

    MTHFR C677T seems to be your only big problem with methylation - but it is indeed a big problem. Supplementing methylfolate (not folic acid) is probably necessary.

    Regarding detox, the missing GSTT1 gene can make it difficult for you to get rid of certain pollutants and toxins, such as by-products from specific drugs. Amitriptyline and rituximab are known to be problematic with that gene missing. So it might help to watch out for anything that might be tough on your liver.
  3. caledonia


    Cincinnati, OH, USA
    On the methylation SNPs, you have a couple of First Priority mutations which are SHMT and CBS. For SHMT take folinic acid. For CBS, if it's expressed, you may have trouble tolerating methyl supplements and get a stress/anxiety reaction or a head pressure. If this is the case, you'll need to do a CBS protocol first so you can tolerate methyl supps. You have a mutation on the major CBS gene and also all the BHMTs, so expression is more likely.

    You have MTHFR C677T +/+ which is a big one, so definitely some methylfolate for that.

    You have the MTR/MTRR B12 double whammy (problems with both B12 intake and recycling) so some B12 for that. For your COMT/VDR combo, Yasko suggests using all three forms of B12 (hydroxy, adenosyl and methylcobalamin) but with less methylcobalamin.

    You have all the BHMTs, which is the secondary backup methylation cycle pathway, so some phosphatidyl serine/choline/lectithin for that. TMG could be another supp to use for that, but it seems like Yasko has been backing off the use of TMG lately.

    VDR is the vitamin D receptor, so get your D levels checked and supplement if those are low.

    For the detox SNPs, CYP2D6 detoxifies 20% of all prescription drugs so you could have problems with those. CYP3A4 detoxifies 50% of prescription drugs, so you could have problems with those.

    SOD2 affects the mitochondria. A person on here reported a lot of benefit from the SOD supplement Biotec Extra Energy Enzymes, so that could be worth a shot.

    GSTT affects glutathione, so you'll need more glutathione than average.

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