Anyone with diagnosed/suspected Mast cell activation had 23andme (or another genetic test) done ?

Kyla

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I am curious because I am homozygous for the JAK2 SNPs associated with Mastocytosis & MPN
*( I am well aware that these are risk factors as opposed to meaning you have the disease)

I can't find any info as to whether these are related to other Mast cell disorders as well (MCAS / MCAD), so curious if they are common (or not) in others with suspected/diagnosed MCAS

They are:
rs12340895(G;G)
rs10974944(G;G)
rs3780374(A;A)
rs10815149(C;C)

I also seem to have the rarer version for all of the rest on this gene (JAK2) but the rest don't have any associated info.

The only one I don't have is rs77375493 which is one that is "acquired" (not inherited) and apparently actually diagnostic of MPN (and I think this one is measured by biopsy)

Anyways, if anyone is willing to share, for those with MCAS/MCAD wondering if you do or don't have any of these as well.
 

Ruthie24

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I have "suspected" MCAD but my doctor is treating me for it with a whole cocktail of meds.

I am heterozygous for the initial 4 which you mentioned.
 

Kyla

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Wow! We may be on to something here.
I'm not sure if only people with the same are replying.

*If you don't have these snps would be interested to hear that too*

Even so... These genes are fairly uncommon.
 
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I know this is an old thread but i'm hetero all four and suspect Mast Cell issues. I found this thread after searching for related issues.
 

Kyla

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rs12340895(G;G) - CG
rs10974944(G;G) - CG
rs3780374(A;A) - GG
rs10815149(C;C) - TT
rs77375493 - GG

I don't know if this mean I have mutations?!!
@lnester7
I am not sure if this is what you mean, but you have the "normal" (more common) version for the last three :
rs3780374 GG
rs10815149 TT
rs77375493 GG

and you are heterozygous (one of those letters is the less common version) for the first two
rs12340895 CG
rs10974944 CG

I've highlighted the rarer ones in pink and the normal version in green so you can see what I mean.
 

Kyla

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I have the snps you've grouped together, see below, and also do not have the one you do not have. I have relatively mild mast cell issues.
rs12340895(G;G) CC
rs10974944(G;G) CC
rs3780374(A;A) GG
rs10815149(C;C) CT
@ahmo it looks like you actually have the normal version for all except the last one, which you are heterozygous for (the letter values I had put next to the snps in my original post are the version that I have - ie the abnormal version)
 

Strawberry

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yeah so mine mean I am safe or not? Like even if you have a mutation mean one can have mast cell??
Good point, as others that posted above were also hetero and have MCAS. I'm homo with all 5 and have suspected MCAS. @lnester7 do you have MCAS?

I have Dr Afrin's book at home, but haven't looked at it yet. I wonder if it mentions any genetics?
 

Kyla

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hey guys, don't read too much into this just yet.

Those genes seem to have a very small amount of research related to Mastocytosis and "Myeloproliferative neoplasms".
I don't have any proof that it is related to MCAS specifically or what the significance would be.

I was curious because I have a preliminary MCAD diagnosis (and a number of the common co-morbidities) and took note when promethease listed mastocytosis as possibly related those genes.
Also because the homozygous versions I have are relatively uncommon (about 6% of the population).
I just looked into it a bit and the heterozygous versions that most of you have are each about 25% frequency.

So considering everyone that replied here seems to have at least one that does seem very interesting...but of course it could just be that only people with those snp variations are responding to the thread...or just a coincidence of course as there are only a few people replying.

Still...I would be curious to see if this holds up for more people.
 
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Good point, as others that posted above were also hetero and have MCAS. I'm homo with all 5 and have suspected MCAS. @lnester7 do you have MCAS?

I have Dr Afrin's book at home, but haven't looked at it yet. I wonder if it mentions any genetics?
I have histamine issues for sure. I get allergies and was having a lot of food "allergies" but when I did the test was negative but doctor told me that is not like easy to detect w test the mast cells. I am doing so much better on quercitin so I suspect I might have some ( I have POTS also....) I have to do some low histamine food because if I eat like a banana for exaple I get instant sneezing and runny nose.
 
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