1. Patients launch $1.27 million crowdfunding campaign for ME/CFS gut microbiome study.
    Check out the website, Facebook and Twitter. Join in donate and spread the word!
Can You Come for a Visit? My ME/CFS Says No
My daughter and son-in-law just had a baby last week. We are thrilled. But we won't be able to see the baby or hold her any time soon. We won't be able to take over little gifts or help out with housework or babysitting.
Discuss the article on the Forums.

Common rarity in 7 out of 7 ME/CFS patients based on 23andMe results

Discussion in 'Genetic Testing and SNPs' started by Valentijn, Oct 25, 2013.

  1. RosieBee

    RosieBee

    Messages:
    85
    Likes:
    36
    UK
    I'm CC
    Valentijn likes this.
  2. seaflower

    seaflower

    Messages:
    38
    Likes:
    18
    I'm...........confused. lol

    But I did look it up and it said-- versions C or T. (my) genotype is CC.
    Valentijn likes this.
  3. JAH

    JAH Senior Member

    Messages:
    254
    Likes:
    123
    San Jose
    I am CC.

    Thanks for doing this research,
    J
    Valentijn likes this.
  4. SOC

    SOC Moderator and Senior Member

    Messages:
    5,282
    Likes:
    6,236
    USA
    I am CC. I have been diagnosed with ME/CFS by multiple ME/CFS specialists.
    Valentijn likes this.
  5. Hip

    Hip Senior Member

    Messages:
    2,730
    Likes:
    2,474
    This is a fantastic project you have set up, Valentijn — this software you designed that analyses 23andme.com genotype data files in search of SNP alleles that are particularly common in ME/CFS patients, but uncommon in the general population.

    It is amazing to see that a genuine scientific result has emerged from this project: your discovery that the rs952061 SNP is common in ME/CFS patients, but very uncommon in the healthy population.

    It is a shame that this rs952061 SNP that you found in ME/CFS patients is located in the intergenic region of the genome, and is not part of any gene. It would have been great if this SNP were part of a well researched gene, so that we could then try to understand the biochemical ramifications of the mutation. Though as you say, this SNP might affect the nearby gene MYBPC1.

    In any case, it is great to see an actual scientific discovery emerge from your project.

    I wonder if it is worth contacting Dr Enlander regarding this result? It says in this post that Enlander may pick up where Jonathan Kerr left off with ME/CFS SNP research.

    I also wonder whether some other rare SNPs might turn up if a larger set of ME/CFS patients were analyzed (say 200 or so ME/CFS patients).

    Another possible extension to this project might be to check to see if there were any particular combinations of SNP mutations present in ME/CFS patients.

    For example, it may be that ME/CFS patients have a certain simultaneous set of SNP mutations that are each quite common in healthy controls, but are uncommon to have simultaneously in combination. I don't know if there is any scientific rationale in this, and it is perhaps an odd concept, but this idea crossed my mind.


    In terms of how the MYBPC1 gene might relate to ME/CFS: the protein this gene encodes for is myosin binding protein C, and the following presentation indicates that MYBPC1 plays a role in immune function:

    Cardiac Myosin Binding Protein-C Prevents Immune Response-Triggered Cardiac Myocyte Death During Inflammation
  6. Hell...Hath...No...Fury..

    Hell...Hath...No...Fury.. Senior Member

    Messages:
    364
    Likes:
    436
    England
  7. hopeful2

    hopeful2

    Messages:
    7
    Likes:
    2
    I'm CT but then so is my husband. I was diagnosed with CFS back in 1988. My husband does not have CFS.
    Valentijn likes this.
  8. dmholmes

    dmholmes Senior Member

    Messages:
    321
    Likes:
    76
    Houston
    CC
    Valentijn likes this.
  9. Snow Leopard

    Snow Leopard Senior Member

    Messages:
    2,261
    Likes:
    1,658
    Australia
    To me, this shows how easily initial findings can later turn out to be insignificant. The initial 7/7 seems to be merely a coincidence and I dare say the T allele may turn out to be more common than suspected if a population based dataset was used for a comparison.

    That said, we need to keep looking or we will never find anything.
    Valentijn likes this.
  10. Valentijn

    Valentijn Activity Level: 3

    Messages:
    6,048
    Likes:
    8,412
    Amersfoort, Netherlands
    Agreed on all accounts. I now have 14 full 23andMe profiles to look at for this data, which makes a very big difference in avoiding false positives. I've also added a similar number of controls, which makes it a lot easier to get a "feel" for how the data looks:
    rs952061.jpg

    While we still have more T, compared to the controls, it's not much of a difference when seen here with a bigger sample size. Hence I think it's helped quite a bit to get those full profiles, as the negative results are then as clear as the positive results.

    I also very much enjoy the enthusiasm, discussions, and learning that results from these investigations - looking into these things has forced my ME brain to learn a helluva lot about something new to me. And hopefully ME/CFS patients will keep contributing their results, so we can keep looking for any commonalities. I also intend to process shared SNPs again soon, since I have a bunch of new rare results to add to the mix, to see if anything new emerges, especially when compared to the controls.
    Last edited: Jan 25, 2014
    WillowJ, ukxmrv and merylg like this.
  11. Antares in NYC

    Antares in NYC Senior Member

    Messages:
    158
    Likes:
    181
    USA
    CT for me; hope it helps.
    Valentijn likes this.
  12. Inspired

    Inspired

    Messages:
    3
    Likes:
    1
    New Jersey
    I'm CT
    Valentijn likes this.
  13. Marylib

    Marylib Senior Member

    Messages:
    428
    Likes:
    10
    New Zealand
    I'm CC. I am diagnosed with M.E. based on the ICC (and CCC).
  14. Nielk

    Nielk

    Messages:
    5,157
    Likes:
    4,865
    Queens, NY
  15. UM MAN

    UM MAN

    Messages:
    85
    Likes:
    14
    Florida
    CT
    Valentijn likes this.
  16. PeterPositive

    PeterPositive Senior Member

    Messages:
    434
    Likes:
    156
    I am CT. Do I win something? :)
    Last edited: Jun 28, 2014
  17. taniaaust1

    taniaaust1 Senior Member

    Messages:
    7,850
    Likes:
    4,762
    Sth Australia
    I think if one compares the percentages its still quite a scientific difference. I think there needs to be about 100 ones with ME canadian defined to compare with equal number of controls so really hope you keep on analysing this as it may be "part" of an answer.

See more popular forum discussions.

Share This Page