Discussion in 'Genetic Testing and SNPs' started by Valentijn, Oct 25, 2013.
But I did look it up and it said-- versions C or T. (my) genotype is CC.
I am CC.
Thanks for doing this research,
I am CC. I have been diagnosed with ME/CFS by multiple ME/CFS specialists.
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
I'm CT but then so is my husband. I was diagnosed with CFS back in 1988. My husband does not have CFS.
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.
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:
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.
CT for me; hope it helps.
I'm CC. I am diagnosed with M.E. based on the ICC (and CCC).
I am CT. Do I win something?
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.
You can also try a Google Site Search
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