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POLG snps 23andMe

Discussion in 'Genetic Testing and SNPs' started by merylg, Nov 26, 2012.

  1. merylg

    merylg Senior Member

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    Sydney, NSW, Australia
    Anyone have any POLG snps that differ from both Lily & Greg Mendel? Could you please list them, or let me know if you have the same results as they do. Thanks.
    I am leaving out the first one listed (rs3087374) as Lily & Greg Mendel differ anyway. On the other 34 POLG snps currently tested by 23andMe, Lily & Greg Mendel have the same results.

    I differ on these snps & have these results:

    rs3176238....CT
    rs2302084....AG
    rs2307449....GT
    rs2074885....GG
    rs758130......AG
    rs2238296....AG
    rs2247233....CT

    "Mutations in the POLG gene are associated with severalmitochondrial diseases, including Alpers' disease, ataxia-neuropathy disorders, and dominant and recessive forms ofprogressive external ophthalmoplegia. A list of lists all published mutations in the POLG coding region and their associated disease can be found at the Human DNA Polymerase Gamma Mutation Database."

    http://en.wikipedia.org/wiki/POLG
  2. Steve-22

    Steve-22

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    rs3176238... CC
    rs2302084... AA
    rs2307449... TT
    rs2074885... GG
    rs758130... AA
    rs2238296... AA
    rs2247233... CT

    Haven't checked the Mendel family genes.
  3. merylg

    merylg Senior Member

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    Hi Steve-22. To compare your results with the Mendels (who may or may not be "normal"!!!) go to "Account" in top right menu, select "Settings", then "Example Profiles"...then tick the box "Show the Mendel family".

    Then I think you may need to go back into view your "Raw Data"....and then you will see the Mendel results under your own for comparison. It can sometimes help in making a possible mutation stand out.

    So thanks for the info you have given me already. Can you also please take a look again, if you have time, to see where you differ from the Mendels. Thanks.

    meryl
  4. merylg

    merylg Senior Member

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    Here's what we have so far: in this order, Lily Mendel, Greg Mendel, merylg, Steve_22

    rs3176238....TT...TT... CT...CC
    rs2302084....GG ..GG...AG...AA
    rs2307449....GG ..GG...GT...TT
    rs2074885.... AG...AG...GG...GG
    rs758130......GG...GG...AG...AA
    rs2238296....GG...GG...AG...AA
    rs2247233....TT....TT...CT...CT

    Interesting. You and I both differ from the Mendels on these snps. Over all you show greater variation.
    You can go into sites like snpedia to find if there is any connection with diseases eg

    http://www.snpedia.com/index.php/Rs2307449

    "[PMID 16080118] Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin."

    If you go into openSNP you can find the frequency of alleles & genotypes amongst openSNP users eg

    http://opensnp.org/snps/rs2307449 where you can see I have the most common genotype for that snp, you the next most common & the Mendels (who we thought might be "normal"!!!) actually both have the rarest genotype! So this is not helping our cause!!!
  5. merylg

    merylg Senior Member

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    Sydney, NSW, Australia
    This (first on POLG list) might be more interesting, as there is more difference in % genotype frequency:
    Once again, looking at POLG gene results for Lily Mendel, Greg Mendel, merylg.

    rs3087374...CC...AC...CC

    http://opensnp.org/snps/rs3087374 we see that CC is common & AC is quite rare...AA would be extremely rare. Significance? "Generally a nonpathogenic polymorphism, but may have a modifier effect that increases severity when combined in cis with other pathogenic variants."

    Steve_22, do you have a result for this snp?
  6. Steve-22

    Steve-22

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    FANCI,POLG rs3087374 CC

    These are the SNPs I differ from the Mendel family:
    rs3176238 CC
    rs2302084 AA
    rs2307449 TT
    rs2351000 AG
    rs758130 AA
    rs2238296 AA
    rs2247233 CT

    Sorry I didn't write the Mendel family's result next to my list.I feel horrible atm,listing these snps made me dizzy,have horrible concentration issues.

    OFF topic: I will do the hair mineral tests to check my heavy metal status.
    merylg likes this.
  7. roxie60

    roxie60 Senior Member

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    Trying to understand, I thought the Mendel family was just to see an example of results. It looks like you guys think it is of value to compare your results with the Mendel family, I'm trying to understand why?
  8. Steve-22

    Steve-22

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    Well the Mendel's are considered to be an average family I guess,meanwhile I was dugging up mast cell genes and other valuable snps and saw both Gred and Lilly had for example CC and I had TTand just look at my signature.
  9. roxie60

    roxie60 Senior Member

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    wow, you have a lot going on. So far all I know I have is MTHFR A1298C. Curious what are considered mast cell genes?
  10. Steve-22

    Steve-22

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    I will post it as soon as the article comes out.My good friend,the founder of mthfrsupport is researching new genes to be added to the methylation protocoll (so we could see real "recovery" stories finally) but decided to check for some mast cell genes and so far I am her lab rat lol.
    It turned out we both have a different mutation besides MTHFR that needs to be adressed first IN ORDER TO MAKE THE MTHFR BYPASS WORKING NORMALLY so I guess people who came here and tried treatment for MTHFR with methylcobalamin and methylfolate and had no luck sure have this newly found mutation too.
    merylg likes this.
  11. roxie60

    roxie60 Senior Member

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    I also have not found much improvement on MB12, Metanx and B+Ultra. Rich commneted he agreed on my observation of my test results seemed 'abnormal' since I was taking Mentanx, we both were expecting a different result/improvement that did not show up. Rich suspects I have Kreps, BH4 and Methionine cycle issues as well. Going to be ordering 23and Me and Yasko later when I get more money. Need to see what else is going on. I looke forward to seeing the article and your update. Yep, I definitely belong to at least one club - lab rat
    merylg likes this.
  12. roxie60

    roxie60 Senior Member

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    I should qualify, my B12 numbers went up bu I did not feel better
  13. Steve-22

    Steve-22

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    You need to get 23andme.It's a toolkit for getting a clear picture of yourself and piecing the puzzle together.
  14. roxie60

    roxie60 Senior Member

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    I have the site up but been hoping/praying the offer a discount before Christmas. Anyone know if they have offered discounts around Christmas before or am I waiting for nothing? They just got a 1/2 million grant from NIH so I thought they might feel a little generous and offer a discount during the holidays. Probably wishful thinking. I have a number of tests I want to do (Yasko baseline tests) and need to save $ where I can.
  15. roxie60

    roxie60 Senior Member

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    Is the 'new' mutation included in 23andMe or Yasko testing?
  16. Symptomatic

    Symptomatic Senior Member

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    I was hoping for a Cyber Monday sale, but since they didn't have one I bit the bullet and ordered - didn't want to wait anymore!
  17. Steve-22

    Steve-22

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    Right now there isn't any promotional codes sorry! Could you join MTHFR support group on facebook?
    There you would get info about promotional codes first hand.No,the gene is not included in Yasko's test.
    23andme tests for 850 000 snps.Yasko's test is just for the methylation pathway.
  18. roxie60

    roxie60 Senior Member

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    I'm kinda feeling the same way, tired of waiting. Was going to order today, might still or wait till Monday, then maybe will have results by Christmas.
  19. roxie60

    roxie60 Senior Member

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    I think I have joined the MTHFR group on Facebook. I've joined so many places related to Methylation and MTHFR and CFS I'm forgetting them all. I joined a couple places on FB I'll ck to see if it is the MTHFR group.
  20. roxie60

    roxie60 Senior Member

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    A little concerned over the Facebook comments since November regarding 23andMe, they appear to be offending existing and potential new customers with their practices. As long as the results are accurate I guess I can still take a chance on 23andMe instead of FTDNA (seems to have a smaller database but I think they are offering a discount in December, just dont know how they stack up against 23andMe).

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