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

[SickOfSickness]

I am CC.

 

[Valentijn]

21% = TT (5)
33% = CT (8)
46% = CC (11)

 

[Valentijn]

@Valentijn
much as I would like nay love to understand any of this I can't
but if you tell me where to look I will try to find it. also you can have a copy of my results with pleasure.

I've left a note in your inbox

 

[rawcreamqueen]

I am CC. Thanks for your continued hard work @Valentijn. You can have a copy of my 23andme results too.

 

[PennyIA]

CC here. Then again, I was never diagnosed with ME/CFS.

Same here - CC - BUT I also have never been diagnosed with ME/CFS.

I'm hoping that you are onto something that captures a unique sub-set of sufferers that can be diagnosed (and hopefully treated).

 

[mabelark]

CC here.

 

[jimmerjammer]

I'm CC, but I have not been formally diagnosed with CFS/Me. But, improving with some of the supplements though...

 

[GypsyA]

I'm convinced you are going to definitely figure something BIG out, Valentijn! You are so clever and always searching for common threads (or the least common!) to see potential answers.

I wonder if we can all share not only what mutations we have for specific SNPs you are closely looking at, but also let you know more clearly what issues we're having. Maybe those of us with TT (as I have) experience CFS (and Lyme) differently than those who are CC or CT. My symptoms are far worse than my daughters when it comes to pain in the body and sensitivities to things.

You're definitely onto something here and I hope more people will share what their rare mutations are with you!!

Thanks for all you and everyone else here does. I hope to one day be feeling better and be an active helper/supporter, too.

XOXOXO

 

[LucyS]

CC here

 

[Aileen]

@Valentijn I tried to use your rare snp analyser but I couldn't get it to work once I downloaded it. I use a Mac. Could that be the problem? Is it compatible with a Mac?
I sent you a pm. Thanks for the work you are doing.

 

[Valentijn]

@Valentijn I tried to use your rare snp analyser but I couldn't get it to work once I downloaded it. I use a Mac. Could that be the problem? Is it compatible with a Mac?
I sent you a pm. Thanks for the work you are doing.

It should be compatible. How is it malfunctioning?

 

[Kimsie]

On openSNP 22% have the CT version. No one in our family has ME/CFS but my husband and one son are CT for this SNP, I don't know if it is as rare to be hetero on this one as you think, but it looks like the double mutation is very rare.

 

[Valentijn]

On openSNP 22% have the CT version. No one in our family has ME/CFS but my husband and one son are CT for this SNP, I don't know if it is as rare to be hetero on this one as you think, but it looks like the double mutation is very rare.

I finally figured out how to do the math - it uses the hardy-weinberg equation, which basically says that the prevalence of the rarer homozygous genotype will be the prevalence of the minor allele squared. So for rs952061 with a prevalence of 10.3% that will be .103 x .103 = 1.06% prevalence.

For homozygous, it's 2 x the minor allele prevalence x the major allele prevalence. So the heterozygous prevalence should be 2 x .103 x .897 = 18.5%.

 

[dsdmom]

I'm CC.

 

[Helen]

I am CT.

 

[Kimsie]

I finally figured out how to do the math - it uses the hardy-weinberg equation, which basically says that the prevalence of the rarer homozygous genotype will be the prevalence of the minor allele squared. So for rs952061 with a prevalence of 10.3% that will be .103 x .103 = 1.06% prevalence.

For homozygous, it's 2 x the minor allele prevalence x the major allele prevalence. So the heterozygous prevalence should be 2 x .103 x .897 = 18.5%.

I think that is in range of the openSNP results. I think they are drawing from a fairly small database. It's interesting to note that both my husband and the son who are hetero for this have a tendency towards slight depression. (This is not the son who has depression from gut problems, he was normal before his gut dysbiosis.) My daughter and I are not prone to depression and we don't have it.

 

[Valentijn]

I think that is in range of the openSNP results. I think they are drawing from a fairly small database.

About 1088 people for that sample.

I'm also not sure why you think it would be associated with depression?

 

[Kimsie]

I have no idea what it is associated with! It's just that I was thinking that people here often had depression but I don't really know that much about it. It just popped into my head!

 

[Valentijn]

I have no idea what it is associated with! It's just that I was thinking that people here often had depression but I don't really know that much about it. It just popped into my head!

It's a myth which has never been substantiated. While many papers do reach that conclusion, or make that assumption, they're are based on mental health questionnaires where physical symptoms are taken as sign of a mood disorder. I doubt depression in ME/CFS patients is any more prevalent than it is in patients with other chronic debilitating illnesses.

 

[Kimsie]

I think it came to my mind because the top level of my son's depression manifests itself as fatigue. For over a year and a half he had terrible fatigue and I think he might have ended up with CFS if we hadn't finally found out he had the MTHFR 677 gene mutation and the fatigue was relieved by taking methylfolate. It was later that I found out that the fatigue was caused by histamine and that this histamine could cause extreme depression that I got a link in my mind between fatigue and depression. Actually, I think now the depression was caused by the fact that he has been having more histamine during the day than at night and it is messing up his ability to regulate SAMe.