DIO1. : I really need to enlist the help of... - Thyroid UK

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DIO1.

shambles profile image
12 Replies

I really need to enlist the help of those of you here that are good at absorbing papers or even the summary.

I have received some gene results back and I've been running through the results and this stands out.

Below is the description offered and the paper to support. I have an AA gene.

The deiodinase 1 (DIO1) gene encodes a protein that converts T4 to T3 and is involved in the degradation of both T3 and T4. Iodine and Selenium are involved in these reactions. [ref]

Check your 23andMe results for rs2235544:

AA: decrease ratio of free T3 to free T4, decreased free T3 [ref]

GG: increased free T3 and decreased free T4

press.endocrine.org/doi/ful...

Any feedback greatly received.

Thanks in advance oh clever ones!

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shambles
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12 Replies
helvella profile image
helvellaAdministratorThyroid UK

Very interesting, I have AC.

10.1210/jc.2008-0397 rs2235544, was associated with the free T3 to free T4 ratio with genome-wide levels of significance (P = 3.6 x 10–13). The C-allele of this SNP was associated with increased deiodinase 1 (D1) function with resulting increase in free T3/T4 ratio and free T3 and decrease in free T4 and rT3.

[PMID 18492748OA-icon.png] A common variation in deiodinase 1 gene DIO1 is associated with the relative levels of free thyroxine and triiodothyronine.

snpedia.com/index.php/Rs223...

helvella profile image
helvellaAdministratorThyroid UK in reply to helvella

This paper (from the UK!) says much more:

ncbi.nlm.nih.gov/pmc/articl...

shambles profile image
shambles in reply to helvella

That's interesting that you have allele too. Perhaps common to thyroid sufferers?

I also had both variants for rs3783938, Hashimoto's and rs12101255 Graves' and I do have both.

jimh111 profile image
jimh111

This polymorphism has a minor effect on the fT3/fT4 ratio in people on levothyroxine therapy. There has been no research as to whether it affects treatment of hypothyroidism, I suspect not. I don't think this assay has any value for thyroid patients.

If you still have hypothyroid symptoms I would ask your doctors to prescribe a little T3 to see how you do. That would be a better course of action rather than paying too much attention to these blood tests.

helvella profile image
helvellaAdministratorThyroid UK in reply to jimh111

They went on (in the same study) to find that the snp has a similar effect in people not taking thyroid hormone.

shambles profile image
shambles in reply to jimh111

Thanks jimh111, just trying to put it all together.

I have no thyroid and have been deteriorating since it's removal. My labs look OK! Ft4 top of range and Ft3 less than half way. I just tested for rt3 as a last resort and it's very high. The gene testing was the question for me, 'am I not getting enough T3 into my cells'?

The gene testing was another obvious route to see if there was any chance of malfunction from that area. It did also show the two variants for DIO2 gene which I understand can also affect the conversion of T4/T3. I really hadn't read anything about DIO1 before and that might be because it's not relevant or not proven to be relevant. :-)

Trixie64 profile image
Trixie64

Shambles,

I'm AC for rs2235544; CC for rs3783938; CT for rs 12101255. Is C the risk allele for rs3783938? I've got Hashimoto's.

shambles profile image
shambles in reply to Trixie64

I am just digesting all the information myself at the moment :-s

Your allele for Hashimoto's is clean, the other allele for rs12101255, Graves' you have one variant.

Trixie64 profile image
Trixie64 in reply to shambles

Thanks Shambles, that's interesting. Which site did you use for analysing the raw data? I ran mine through GBhealthwatch, which showed I have risks for hypothyroidism but doesn't mention Graves'.

shambles profile image
shambles in reply to Trixie64

I'm on a few at the moment. I'm using:-

LiveWello.com

geneticgenie.org

nutrahacker.com

mthfrsupport.net

geneticlifehacks.com

I haven't tried the GBhealthwatch but I will tomorrow thanks.

All very interesting though. The LiveWello.com is the most straight forward although you have to pay $19.95 and then a further small fee for more detail but it spells out the vitamin deficiencies but also be aware it does not filter either, so you don't want to know if you have inherited say cancer genes be careful.

Trixie64 profile image
Trixie64 in reply to shambles

Many thanks.

jimh111 profile image
jimh111

"I have no thyroid and have been deteriorating since it's removal. My labs look OK! Ft4 top of range and Ft3 less than half way."

These labs are quite normal, fT3 and fT4 tend to 'see-saw' a little, at least mine do. I wouldn't bother too much about blood tests as your results are not unusual and other tests like DIO1, DIO2, rT3 either have little effect or are almost impossible to interpret. My personal view, but I think they are a bit of a blind alley.

There is some research that shows people with little or no thyroid produce a little less T3. Also, if your pituitary has been suppressed for quite some time (could have done before you were diagnosed with Graves') then the TSH becomes lower than it should be. This can also happen if you are depressed (and of course hypothyroidism can cause depression) so it's important to try and stay well (don't mean to be condecending).

It's not clear what your symptoms are. i.e. do they still suggest a thyroid problem, over or under active. I would go by your signs and symptoms. I wouldn't increase your levothyroxiine dose, if your symptoms suggest hypothyroidism I'd tactfully ask for a trial of T3 (liothyronine). The late Dr Skinner found that NDT was effective for patients who had a thyroid removed but I believe NDT can aggravate autoimmunity (Graves'). I've no experience of this, it's just what I have read from patient comments.

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