From 23Andme, I Show A Familial Dysautonomia Issue

[sue1234]

For any of you that have 23andme results, could you check your gene IKBKAP results? Specifically, the SNP rs3204145.

I am still learning, and definitely not sure of how I read these results, BUT, for that SNP, my results are AA, which only shows a very small percentage of carriers. It is the gene associated with familial dysautonomia, which relates to Ashkenazi Jews. I had read about F.D. over the years, but it is one of those things that people are born with and are really symptomatic. I am almost certain we don't have any Jewish genes, unless 100s of years ago.

Anyway, anyone else have an issue with that SNP?

[Birdlady]

Hey Sue. I think you might be confusing the literature because of the way the alleles are being reported...This is why we have to be careful interpreting results because a simple mistake and it is easy to think you have something you don't. I explained this same concept to someone on the phoenix rising board and it is sort of difficult to do, so bear with me here. There are 2 sides to a DNA strand, the plus strand and minus strand. 23andme will always without any exception report results on the plus strand. The reason why this is important to know is because rs3204145 is reported in literature on the minus strand. If something is reported on the minus strand you have to flipped the letters.

A=T, C=G.

Now here's where it gets even trickier because in this SNP the alleles are A or T. Since rs3204145 is reported on the minus strand, you have to change the A to a T and the T to an A. The risky "A" allele would become a T and the normal "T" allele would become an A. So your AA result there is normal. A good way to double check yourself is by adding the example family, "The Mendels" into your account. The option is in your settings and it helps to see if you are matching theirs genotypes. It isn't a bullet proof method, but it can help a lot.

Here's a thread on 23andme that explains what the plus and minus strand means. https://www.23andme....ty/thread/7106/ Hopefully this helps.

[sue1234]

Thank you! Anything helps at this point!

[HopeSprings]

What is 23andme?

[sue1234]

Naomi, it is a testing service online that you can pay to have your genes tested. It comes with a ton of "raw data" that is very confusing to understand in most cases. Just look up 23andme in your search engine.

[HopeSprings]

Oh interesting, Sue. Maybe you could take the results to a geneticist to interpret? I think a geneticist is going to be my next stop. Did you get your D results back yet?

[sue1234]

I probably need to see a geneticist again now that I have some info, BUT I don't know how to handle this genetic info with having it mentioned in my medical records. If there is something written down, it will then be a predisposing factor, and my luck I'll get in a situation years from now being not covered or something weird.

I do need to talk to a doctor, though, as the "red flag" I got from my genetic results is I have a 9x more likely incident of having a blood clot than the average person due to the Factor V Leiden gene that stops clots from forming. I apparently have the bad combination of this. Obviously I need a doctor to know this so that they can do what they do for patients with this(I have no clue what they do for it).

Which I'd like to ask, are there any other 23andme that have a "bad" rs6025, which is the F5 gene? I have the CC variant.

Naomi, all my vit. D tests came back normal, but all the D levels were in the absolute bottom of normal(even the 1,25 D). So, I was prescribed the Calcitriol to take every other day. I've done 3 doses, and yesterday it nailed me! A possible side effect is hypoglycmia, and it hit me hard yesterday. I have always got this side effect when taking the regular D, too. I guess until they fix my hypoglycemia cause, I will not be able to take any D or calcium. And, my poor bones really need it!

[HopeSprings]

Naomi, all my vit. D tests came back normal, but all the D levels were in the absolute bottom of normal(even the 1,25 D). So, I was prescribed the Calcitriol to take every other day. I've done 3 doses, and yesterday it nailed me! A possible side effect is hypoglycmia, and it hit me hard yesterday. I have always got this side effect when taking the regular D, too. I guess until they fix my hypoglycemia cause, I will not be able to take any D or calcium. And, my poor bones really need it!

Oh darn, was hoping we had something here. Of course you don't want to take anything that makes you feel worse. Keep plugging away - there has to be answer.

[peregrine]

Sue - I don't have Factor V but it runs in my partner's family (his dad and sister have it). The way I understand it is that you are generally heterozygous (one allele each of the bad and good versions, so to speak). Homozygous folks have issues so severe that you probably would have noticed it already (but it's worth making sure you're not homozygous). Advice if you are positive for Factor V is generally to take anticoagulants (warfarin or coumadin, etc), avoid sitting for long periods (uhh), avoid things that lead to more clotting (smoking, hormonal birth control, etc), etc. Given that your result was positive, you should probably consider bringing this up with your family doc and getting it retested through a genetics clinic, since it's a serious risk factor for Deep Vein Thrombosis and thus pulmonary embolisms, which are severely bad.

[Birdlady]

CC is normal for rs6025. It is the T allele you have to worry about on that one. Thankfully it doesn't seem to run in my family.

[sue1234]

Dana, I mentioned the wrong SNP, and it's a related gene. It is the i3002432 for 23andme, or they say more commonly, rs1799963. I have the AG version, which I think is the problem with making me be prone to a thromboembolism. This one is the F2 gene, and studied along with the F5 gene for the Factor 5 L. Apparently the F2 gene is what is making the whole system not work right and gives me an increased risk of throwing a clot. When I got my results back from 23andme, this was the number 1 risk listed, and it was listed in RED.

When they mentioned I had that risk, most of their reference for my issue had to do with Factor 5 L., so I assumed they meant that was the problem. So confusing.

[Birdlady]

In the health reports, if mulitple markers are used there should be a graphic when you scroll down that says "Marker Effects" with gray, green or red bars. If you click on any of those, it will tell you more about it. There is also an area at the top that says "technical report" and it will give you the SNP's they used to come to their conclusions on risk. That's where they also list the studies too, so that might be helpful to learn more!

Also important to remember that SNP's without a lot of research aren't listed in 23andme's health reports. You could have another SNP that is countering the effect, but we really do not know. If you are worried and have questions, then talk to your doc about it. Consult a geneticist.

Every day they are learning more and more about genetics. For years they thought everything in between genes was junk and it did nothing. This newest article says they were completely wrong and there are millions and millions of switches in this "junk". We really know a lot less than we think.

Far From ‘Junk,’ DNA Dark Matter Plays Crucial Role

http://www.nytimes.c...-to-health.html