@
Valentijn
thank you - little star
of course I have no idea what it means............
CC is the common variant in the general public.
Something I've been working on is compiling a list of the most shared rare SNPs in ME/CFS patients, and looking to see if they trace back to a common gene. Thus far, there are 29 rare SNPs shared by at least 3 (out of 16) ME/CFS patients in the homozygous form which are on genes that either affect AKT1 or affect genes which affect AKT1.
That's after removing likely false positives, based on prevalence in the 7 controls (people who certainly do not have ME/CFS/CF or even fatigue or pain) . Positive results shared by only 3 patients were also removed if 2 of those patients were relatives, to err on the side of caution.
So that produces the following results (C1-C7 are controls, P1-P16 are ME/CFS patients):
The average number of rare homozygous mutations on these genes is 6.9 for patients and 0.4 for controls.
I only had partial data (rare homozygous mutations) for P10-P16, hence, hence the general lack of heterozygous mutations shown for them. Patient P5, who has a low number of shared rare homozygous mutations sounds like a pretty typical moderate or worse ME/CFS patient, as defined by CCC/ICC, and without any other obvious explanation for her symptoms. So it would seem that there's still a problem with either not detecting all of the relevant SNPs, or the entire theory is wrong. But the other low scoring patient, P12, doesn't have typical CCC/ICC ME/CFS symptoms, though he does have some shared issues.
Anyhow, this might be an indication that instead of a specific SNP or gene being relevant, their relationship to another gene is the significant factor. Hence AKT1 might be causing a similar set of problems in different people, based on mutations in different genes which are having a fairly direct impact on AKT1. So even though you don't have the rare version of that one SNP, a combination of other SNPs might be having the same impact.
If anyone wants to use 23andMe to look up their genotypes for these SNPs, here's a text list including the rare allele:
rs13118884 A
rs10457667 A
rs1338457 A
rs6799780 G
rs11791618 C
rs10735443 A
rs1946282 G
rs6816809 A
rs476951 A
rs11057369 A
rs4720309 A
rs4279979 G
rs17762542 G
rs5965630 A
rs6786329 C
rs2979001 T
rs2221513 G
rs952061 T
rs36880 C
rs137954 G
rs17780664 G
rs17133109 A
rs17321293 C
rs2417266 C
rs2139567 T
rs13133587 T
rs7912364 A
rs11907065 C
rs12732188 A
If anyone wants to give me their data for these SNPs, and hasn't already given me their full 23andMe results or rare homozygous results, please post here or send them to me in a private message/conversation if you want to keep them anonymous. It also helps very much if you specify which definition of ME/CFS you meet the criteria of. But full 23andMe results or homozygous rare results are even more useful, if you feel comfortable sharing them.