Dr. Bateman answers IOM questions from the community: Part 1
Clark Ellis brings us Part 1 of an interview with Dr. Lucinda Bateman, where she answered questions posed by the patient community ...
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Let's Explore Other SNP's (APOE Status, Liver pathways etc) Feel free to add!

Discussion in 'Genetic Testing and SNPs' started by Calico13, Apr 17, 2012.

  1. Valentijn

    Valentijn Activity Level: 3

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    Amersfoort, Netherlands
    You simply can't do that. You have to read the results to see which allele is the risk allele. If you guess, you're going to be wrong about 50% of the time :p
     
  2. roxie60

    roxie60 Senior Member

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    Central Illinois, USA
    What results? Is there some other reference on snpDB that indicates 'risk' allele or helps determine risk allele?
     
  3. Valentijn

    Valentijn Activity Level: 3

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    Yes, it usually links to research papers written about the SNP if there is any. On the gene's chromosome map near the top of the page, if there's any research linked to it there will be a light blue box on the green line showing the current SNP. If you hover over the box, it gives a list with links to the pubmed abstracts.

    Then you have to read the abstracts or full papers to find out which allele is the risky one.
     
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  4. Critterina

    Critterina Senior Member

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    Arizona, USA
    Here's another one I'd like to know about: ATP5c1. I was reading about this gene making the gamma unit which spins in the ATP synthase complex. My ATP5c1 is full of mutations.

    ATP5c1 rs2778475 A AG +/-
    ATP5c1 rs1244414 T CT +/-
    ATP5c1 rs1244422 T TT +/+
    ATP5c1 rs12770829 T CC
    ATP5c1 rs4655 C CC +/+
    I've always had a slow metabolism (being active, my calorie intake is about 350 calories below what my practitioner says is my basal metabolism rate - what I would burn by sleeping 24/7 - when my weight is stable.) I wonder if it's connected. I'm still stronger than most people, too. So many mysteries!
     
  5. roxie60

    roxie60 Senior Member

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    Central Illinois, USA
    ATP5c1 rs2778475 A AG +/-
    ATP5c1 rs1244414 T CC -/-
    ATP5c1 rs1244422 T CT +/-
    ATP5c1 rs12770829 T CT +/-
    ATP5c1 rs4655 C CT +/-

    My understanding so far is if one is heterozyg that the genes may or may not be turned in in a fashion that causes health issues but that an event (health, stress, other) can turn on the negative impact of the hetero gene but it may still not be known the amount of impact.
     
  6. picante

    picante Senior Member

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    Helena, MT USA
    Yes, I was wondering the same thing about that NAT2PRED tool. When I input my 23andme results (as is), I get:
    Slow = 0.997581. When I look at haplotypes, I think I'm probably *6A/*6A.

    I found this a while ago: http://www.ncbi.nlm.nih.gov/pubmed/24221535
    “We identified an 'ultra-slow' acetylator phenotype based on combined *6A/*6A, *6A/*7B and *7B/*7B genotypes containing the homozygous minor alleles of C282T (rs1041983, *6A, *7B) and G590A (rs1799930, *6A).”

    I have both of those homozygous snps.

    I don't understand this gene. Does it affect your ability to produce acetyl groups? That sounds pretty important to me, since it will affect cognition and the ability to detoxify carcinogens and a whole lot of drugs.

    In another thread, @caledonia said "In addition, you have to balance methyl groups with acetyl groups in order to balance reuptake of neurotransmitters. The relative levels of neurotransmitters are not nearly as important as the reuptake functioning." http://forums.phoenixrising.me/inde...-in-a-way-i-can-understand.34707/#post-541118

    Does this point to a need to take acetyl-containing supplements? Which ones? How do we boost acetylation?

    I'm really scratching my foggy-groggy head about this. Why is my brain function so bad lately on the B12 protocol? Something's really out of whack. Is it methyl/acetyl equilibrium?

    Can someone help? @Valentijn, do you know?
     
  7. caledonia

    caledonia

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    Cincinnati, OH, USA
    You could be detoxing metals. I've gone through periods of having a muggy head too. Came out of it eventually though. This is something Rich Vank reported.
     

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