DNA results are in! Can anyone help decipher? - Thyroid UK

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DNA results are in! Can anyone help decipher?

Gilbo72 profile image
17 Replies

Hi, I have just had back my results from Blue Horizon. I am trying to get my foggy brain around the results and what they mean, but I am struggling a bit, so wondered if anyone can help? (I hope you can read the pic attached, I have copied the text below)

I have previously posted Thyroid results. Generally I feel best when my TSH is suppressed and my T4 is over range (which the GP's get nervous about.)

As a teenager I jokingly referred to my 'dodgy hormones'. In my 20's I was very underweight, bad acnes and it was discovered I had Polycystic ovaries.

In the past I have tested positive (in the 100's for both Thyroid antibodies) and assume I have hashimotos, brought on by a really, really, traumatic emotionally and physically, stressful time after giving birth.

Any thoughts would be gratefully received....

Text from the pic...

GENE TESTED: COMT - Inactivation of Stress Hormones and Oestrogen is one of the main inactivating enzymes of stress hormones and oestrogen in the body. COMT variants cause slow clearance of stress hormones and oestrogen leading to high oestrogen and stress hormone levels which may also be linked to thyroid hormone dysfunction.

RESULT: RED AA

Very slow (up to 4x slower than the wild "GG" genotype) clearance of stress hormones and oestrogen. You may be at increased risk of thyroid dysfunction when under stress and due to poor elimination of oestrogen.

GENE TESTED: DIO1 - Thyroid Hormone Activation

“D1” is largely expressed in the liver and kidneys. It is responsible for the clearance of rT3 from circulation, and for facilitating the conversion of T4 to T3 in plasma and surrounding tissue. This process requires selenium and iodine for optimum function. Here we look at two variants linked to poor conversion of T4 to T3 and reduced clearance of rT3.

RESULT (A): AMBER AA

The 'A' result is not associated with increased DIO1 gene function and is therefore not associated with high conversion of FT4 to T3, or of reduced circulating rT3 levels. Ensure adequate iodine and selenium intake to support this pathway optimally.

RESULT (B): GREEN CC

Healthy conversion of T4 to T3 in plasma and peripheral tissue, and clearance of rT3 from circulation. Ensure adequate intake of iodine and selenium to support optimal function.

GENE TESTED DIO2 - Thyroid Hormone Activation

“D2” is importantly expressed in the central nervous system, pituitary, brown fat tissue and muscle, and responds tO changes in thyroid levels. D2 is responsible for the ‘local’ conversion of T4 to T3 in the thyroid, placenta and brain. It requires selenium and iodine to function optimally. Here we look at two different variants linked to decreased T4 and low mood in certain individuals.

RESULT (A) AMBER TC

The 'C' result is associated with anxiety and depression in many cases in those taking thyroxine (T4) hormone replacement therapy for hypothyroidism. This can be overcome with combined T4/T3 therapy.

RESULT (B) GREEN TC

The 'T' result is associated with increased DIO2 activity. This has been shown to present as lower T4 and rT3, and higher T3 Levels. Adequate levels of iodine and selenium are required for optimal functioning of this pathway.

GENE TESTED: FKBP5 - Cortisol Regulation

FKBP5 is an important stress-regulating gene responsible for Lowering cortisol levels after a stress response. Variants are associated with prolonged and increased symptoms of stress, which may be due to delayed lowering of cortisol levels.

RESULT: AMBER CT

The 'T' result is associated with impaired cortisol regulation and lower stress resilience. You are likely to be more negatively affected by stress and the impact it has on the body. This includes the lowering of thyroid hormones. Exercise has been shown to be effective in reducing the negative effects of stress, and in increasing cell sensitivity to thyroid hormones.

GENE TESTED: PDE8B - TSH Signalling

PDE8B is found in the thyroid but not the pituitary, and is involved in TSH signalling. It is thought that the variant decreases the response of the thyroid gland to TSH stimulation.

RESULT: GREEN GG

You are the "wild type" which is not associated with reduced thyroid sensitivity to TSH stimulation - resulting in healthy thyroid response to TSH stimulation and normal levels of TSH and thyroid hormones.

GENE TESTED: TNF-a - Inflammation

TNF-a is an inflammatory cytokine that helps regulate the immune reaction involved in inflammation, giving rise to fever and inhibiting tumour growth. If poorly controlled, it may be implicated in a number of autoimmune disorders. Variants in TNF-a are associated with overreactive immune responses and prolonged inflammation.

RESULT: GREEN GG

Not genetically predisposed to overreactive inflammatory immune response. This means you are less likely to suffer from chronic inflammation or be at increased risk of developing autoimmune conditions - including Hashimoto's thyroiditis or Graves' disease. It is still important for you to manage stress, and follow a healthy diet and exercise regime to keep your risk low.

GENE TESTED: TSHR - Thyroid Stimulating Hormone (TSH) Receptor The TSHR gene plays a central role in thyroid metabolism by controlling the thyroid gland’s receptivity to TSH. Variants in this gene have been linked to hyperthyroidism, particularly to Graves’ Disease (GD).

RESULT AMBER GA

The 'A' result has been found to be more common in people with Graves' Disease and is linked to the presence of thyroid stimulating hormone receptor antibodies (TRAb), associated with increased risk of developing GD.

GENE TESTED: TRHR - Thyrotropin Releasing Hormone (TRH) Receptor

Responsible for the body’s receptivity to TRH which stimulates the secretion of TSH from the pituitary gland. In turn, TSH stimulates the production of thyroid hormones from the thyroid gland. TRH is an important part of the negative feedback loop that ultimately regulates thyroid hormone levels. Variants have been shown to affect TSH levels.

RESULT: RED GG

The 'G' result has been associated with a less responsive negative feedback mechanism. Carriers of this genotype may show higher circulating TSH: T3/4 ratio due to delayed reduction of TRH and TSH in the presence of healthy thyroid hormone levels. This may mean that the body is subjected to a less efficient response to changing thyroid hormone requirements.

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Gilbo72
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17 Replies
SlowDragon profile image
SlowDragonAdministrator

Sorry can't read this photo

You mention traumatic birth. Did that include dramatic blood loss ?

Have you been seen by endocrinologist for evaluation for Sheehan's syndrome

en.m.wikipedia.org/wiki/She...

PCOS and Hashimoto's are linked

Gilbo72 profile image
Gilbo72 in reply to SlowDragon

Hi Slow Dragon, I've just updated the post to include the results.

I don't think I had blood loss, but I did have a very difficult birth followed by 3 major abdominal surgeries over the period of a year, and the psychological damage of having to push my intestines back in and 'bind' myself up every day with bandages for a year whilst fighting the hospital ... good grief just thinking about it all sets me off!... it was a very, very bad time...

SlowDragon profile image
SlowDragonAdministrator

Just seen on a previous post you have low B12

Acne often connected to B12 issues

You should insist on testing for Pernicious Anaemia before starting either B12 injections or daily supplements, probably with good quality vitamin B complex as well. One with folate in not folic acid

Gilbo72 profile image
Gilbo72 in reply to SlowDragon

Yes I will do. Acne is not so bad now. Skinny I am not...

SlowDragon profile image
SlowDragonAdministrator in reply to Gilbo72

I don't think you can use this Blue Horizon DNA test as medical proof of DNA issues ......

Be interesting if anyone else has done so

Regenerus test is a Medically recognised DNA test

thyroiduk.org.uk/tuk/testin...

Gilbo72 profile image
Gilbo72 in reply to SlowDragon

I wasn't going to show it to my GP anyway, (although I might for amusement..), no it was really for my own interest. Not really sure I can make much out from it though. Red is variants from both parent, amber is a variant from one... but I don't understand enough about the thyroid system. I was hoping it was going to written in laymans terms... (shuffle in the corner and put my dunce cap on...)

SlowDragon profile image
SlowDragonAdministrator in reply to Gilbo72

So, as I read it, in layman's terms

Red = homozygous - from both parents

Amber = heterozygous - from one parent

Your results read.....only looking at amber or red results

COMT - Result red. Risk of thyroid disfunction due to slow ability to get rid of excess oestrogen or stress hormones

DIO1 - result A = amber. But not significant (?)

DIO2 - result A = amber. Likely to benefit from adding T3

FKBP5 - amber. More likely to be affected by stress

TSHR - amber. More likely to have Graves (did you previously have Graves?)

TRHR - red. Far more likely to have sluggish unresponsive TSH

I might get that done. It's very interesting

But I already know I am heterozygous DIO2.

Gilbo72 profile image
Gilbo72 in reply to SlowDragon

mmm! Thanks slowDragon.

Graves, well thats interesting. I know I was underweight at one point in my life (but that was after embarking on a health/fitness regime) and I did loose an awful lot after my first pregnancy. My first pregnancy was a dream, I felt and looked fantastic, all bump and slim and I lost weight really fast afterwards and became a bit underweight. I remember my second being awful, I felt awful, I looked awful. Maybe things were happening then that I wasn't aware of?

interesting thank you.

SlowDragon profile image
SlowDragonAdministrator in reply to Gilbo72

Or it was early stage Hashimoto's

Often hyper type symptoms first

in reply to SlowDragon

Great summary you've done here for Gilbo72 . I decided to buy the profile myself today, especially as it's on offer - ok it might not have the 'test' credentials that Regenerus has but interesting as a general overview of health.

Angel_of_the_North profile image
Angel_of_the_North in reply to SlowDragon

I have TRHR red also. I always have low TSH even with low Frees. But I also have amber PDE8B - TSH Signalling. Basically, my TSH is never "in sync" with my Free t4 or free t3. Everything else is super-duper green. But I'm still hypo. Apparently I have wonderful T4 to T3 conversion - except I don't. But perhaps that's because my TSH never rises.

SlowDragon profile image
SlowDragonAdministrator in reply to Angel_of_the_North

So your PDE8B is amber and means your thyroid not very responsive to TSH

TRHR is red....meaning TSH doesn't rise in response to TRH from pituitary

So your TSH doesn't work well AND your thyroid doesn't respond well to TSH

So when pituitary senses low FT3 or FT4, the TSH doesn't rise much and thyroid doesn't respond to small rises in TSH .....

So essential to gauge correct level of medication by FT3 and FT4 levels and ignore TSH

Show these results to your endocrinologist

Angel_of_the_North profile image
Angel_of_the_North in reply to SlowDragon

Yup. I have central hypo. But no endo has ever been interested as I didn't have a pituitary tumour when they thought I should!

SlowDragon profile image
SlowDragonAdministrator in reply to Angel_of_the_North

So now you have proof

Give Endo and GP copy of this to be held on your medical records

judburke profile image
judburke in reply to Gilbo72

I’ve just got my report and I have no clue what it’s telling me! Other than I don’t react well to stress which I already knew lol. Mine seems to contradict about conversion from T4 to T3. I am disappointed with the explanations too. I had expected layman’s terms as you did. Might bite the bullet and get the other one done

in reply to judburke

I feel the same. Just got my results and they seem to contradict each other. Very disappointed with all the jargon which doesn't tell me very much at all :(

I am sorry that over here in the usa my endocrinologist did not do the same types of tests. But I will say this, brain fog is one of the major side effects of low thyroid. And I'm 73 and part of my problem is aging. I've also had breast cancer surgery last year and the aromatase inhibitor I'm on to keep my body from creating estrogen has odd side effects which are popping up. All my regular blood tests came back normal and so far they say my thyroid hormone level is normal too. I hope you feel better soon

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