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Created in 2008, Phoenix Rising is the largest and oldest forum dedicated to furthering the understanding of, and finding treatments for, complex chronic illnesses such as chronic fatigue syndrome (ME/CFS), fibromyalgia, long COVID, postural orthostatic tachycardia syndrome (POTS), mast cell activation syndrome (MCAS), and allied diseases.
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There are a couple of problems with this result. The first is that rs952061 is located outside of a gene rather than nicely inside of it. So it's in an "intergenic region". Intergenic SNPs aren't directly involved in creating the proteins made by genes.
However, intergenic SNPs can still promote and enhance nearby genes, thereby regulating them. It is also possible that SNPs currently thought to be intergenic are actually part of discovered genes. Hence rs952061 might be on an undiscovered gene, or it might be affecting the nearby MYBPC1.
The other problem is that there's been no apparent research into rs952061. Even though the dbSNP shows a couple boxes for it, there's no links to any research. Searching google scholar and google also bring up nothing for rs952061.
Hence there's no way to be certain that this SNP does anything at all, much less anything relevant to us. Any conclusions are entirely guesswork based on the rarity of our genotypes, our shared disease and symptoms, and the proximity of rs952061 to the MYBPC1 gene.
I'd appreciate it if other users with ME/CFS could look up their result for that gene, and let me know if they have CC, CT, or TT.
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: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:
View attachment 6327
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.