DIO2 and DIO1 results from ancestry

[Sleepman]

I thought it was more clear cut when I did this test but on reading more the wise ones on here point out it is not black and white and only a guide more potential for conversion issues. Shoot me down if I am wrong ... would welcome comments.

For DIO2 - 1 of my results is mutated - more likely a poor converter

For DIO1 2 markers - I am fully mutated on both of each. - it seems this is less clear cut on poor conversion but likely more chance of issues, probably not ideal!

I followed Paul Robinson blog post - download massive text file, use search to find eg "rs11206244" it has to fully match - some have additional numbers after.

rs2235544

rs225014

I realise ancestry lab is not "recognised" fully but decided because I got a file with 50,000 of the 100,000 DNA results for £75 . It takes a couple of months to come back so not fully sure of my logic now ...

I am on combination T4/T3 as my blood results were always low on T3 and I feel better on some T3.

I have not seen and Endo.

I got a report done on full report from these people having learned about it from here, they process the massive report £20 52 pages of potential issues, they look at it from a nutritional point of view to try to help guide treatments. etc. Interesting and potentially useful later ?

mthfr-genetics.co.uk/

Overall not sure I am any wiser, the T3 blood tests and how you feel are more significant.

I will probably be emailing this to my 3 children so they know who is to blame for any DNA issues or it may be of use to them at some point ?

[helvella Administrator Thyroid UK]

I had 23andme done many years ago. (2012 - just checked!)

The DIO-related SNPs tested for me were:

DIO1

rs200636744

rs4926616

rs17109582

rs2235544

rs11206244

DIO2

rs225014

rs225013

rs12885300

rs17110449

rs224995

DIO3

rs945006

It has been widely reported that they no longer do most, possibly all, of these. But if you had yours done a long time ago, it is possible you will have these. Visible in the raw data browser.

Not sure if any of this has been helpful. In some ways, yes, because the results largely exclude issues.

There again, possibly more useful than:

You have more Neanderthal variants than 85% of 23andMe customers.

[Sleepman in reply to helvella]

Good point about being able to possibly exclude things.

Most of your list is on Ancestry see above.

Is there any quick way of checking what is "normal" or whatever the correct term is ?

Ancestry included and my results

[helvella Administrator Thyroid UK in reply to Sleepman]

In 23andme, if you click on a SNP, you get taken to this site:

ncbi.nlm.nih.gov/snp/rs2006...

Change the last bit of the link to go to other SNPs.

The answer is a bit more subtle than "this is common; this is rare".

Screenshot of NBSNP site

[DippyDame]

DNA is clearly hugely useful for a number of things but I sometimes think we get a tad hung up on it in relation to health issues.

I have my raw genetic data from a few years back and I'm not sure it has changed my approach to health care

I tested positive for a very rare variant which has had little or no effect on me, nor on my elder son, a university prof....yet the possible impact could have been very different according to the geneticist and doesn't bear thinking about.

My younger grandson also has the variant, he did have open heart surgery at 8 weeks, hence the genetic tests.....thanks to a brilliant Italian heart surgeon he is now a healthy, highly intelligent 8 year old. It could all have been so different because initially GPs failed to do the basic checks which would have provided the clues to the problem...we very nearly lost him!

I'm not sure prior DNA info would have changed anything.

I asked if that genetic deletion might account for my rare thyroid condition....reply... we don't know, it may be an as yet unrevealed variant

I'm not pepared to share the deletion involved and I only share the bare bones of my story incase it might help someone else(

Also...I need high dose T3-only to function...but I don't have a genetic trail back to my parents and those before....but with hindsight I'm sure there is a link.

I also have the Dio2 polymorphism/homozygous which has a greater impact on conversion than if inheritance is heterozygous. Does that help me?.....Not a great deal more than comparing FT4 and FT3.

"Blame" doesn't come in to it, again my geneticist pointed this out!! We just have to play the cards we are dealt and try not to lose sleep over what might be.

I tend to agree, how we feel and blood tests are more significant.....they are personal to us as individuals!

No harm in sharing with your children....so long as it doesn't worry them. Do you recognise any traits?

[helvella Administrator Thyroid UK in reply to DippyDame]

The interpretation is a huge issue.

I suspect that, in years to come, we might see that some issues only arise when there are certain combinations of genetic variants. Looking at any one SNP meaning effectively nothing in many cases.

Such combinations might be very difficult to identify.

[DippyDame in reply to helvella]

Basically what my geneticist told me....

[Jaydee1507 Administrator]

I did the same analysis as you - Ancestry raw data then the MTHFR site for analysis.

Turns out I have 1 copy each of DIO1 & 2 and my blood results reflect that with FT3 being around 30% of range when fully replaced on Levo.

Those who have 2 copies of DIO2 tend to have almost below range FT3 when fully replaced on Levo from what I can see.

IMO people who have either 1 or 2 copies of DIO2 need T3 in addition to Levo.

All the information from the MTHFR analysis is quite overwhelming there is just so much of it, and knowing what is important is hard to know.

Over time it has given me useful pointers and definitely validated me for the helath issues I've experienced and that is valuable in itself.

[helvella Administrator Thyroid UK in reply to Jaydee1507]

But which SNPs?

[Jaydee1507 Administrator in reply to helvella]

I dont have the time to sort through it all now but I checked out the ones on Paul Robinsons site.

[DippyDame in reply to Jaydee1507]

Those who have 2 copies of DIO2 tend to have almost below range FT3 when fully replaced on Levo from what I can see.

academic.oup.com/jcem/artic...

Conclusions: Our results require replication but suggest that commonly inherited variation in the DIO2 gene is associated both with impaired baseline psychological well-being on T4 and enhanced response to combination T4/T3 therapy, but did not affect serum thyroid hormone levels.