Blue Horizon Thyroid Genetic Test results

[J972]

Afternoon,

My Blue Horizon Thyroid Genetic Panel results have arrived after a long wait and I’d appreciate some help understanding them. I undertook the test to check my DIO1 and DIO2 status, both of which appear ‘normal’ (no inherited defects).

However, three variants are flagged up in either red or amber. I presume/think the red indicates that I’ve inherited genes from both parents whilst the amber means one parent was responsible? By the way, please feel free to correct any of my language, this gene business is completely out of my sphere of understanding!

If anyone is able to comment on the potential implications of the red and amber and suggest any additional tests that I might like to consider I’d be immensely grateful. For example, should I get my TRAb tested??

Does the amber TSH signalling suggest that my thyroid test results should be interpreted differently? The COMT result is confusing given that I have low cortisol and low oestrogen - or have I got the wrong end of the stick? ?

The results are completely unreadable when I upload as an image, so, I’ve written the results out below:

Red:

COMT - inactivation of stress hormones and oestrogen. AA

One of the main inactivating enzymes of stress hormones and oestrogen in the body. Variants cause slow clearance of stress hormones and oestrogen leading to high oestrogen and stress hormones which may be linked to thyroid hormone dysfunction.

Impact/advice:

The A allele on rs4680 is associated with v slow (up to 4x slower than wild GG genotype) clearance….[repetition]….both of which are known to have a negative impact on thyroid hormone levels.

Red

TSHR - thyroid stimulating hormone receptor AA

Plays a central role in thyroid metabolism by controlling receptivity to TSH. Variants in this gene have been linked to hyperthyroidism particularly to Graves’.

Impact/advice

The A allele on rs179247 has been linked to presence of TRAB antibodies, associated with increased risk of developing Graves’.

Amber

PDE8B - TSH signalling GA

Found in the thyroid but not the pituitary and is involved in TSH signalling. It’s thought that the variant decreases the response of the thyroid gland to TSH stimulation.

Impact/advice

The A allele on rs4704397 is linked to reduced thyroid sensitivity stimulation which could result in higher TSH levels in order to produce normal levels of thyroid hormones. A clinical test would show high TSH levels and normal to low thyroid hormones.

[DippyDame]

I found BH results confusing and found the following clearer than BH's vague traffic light signalling

Check the listed alleles....shown as letters.

The TT result means no defect from either parent so no impact on conversion

CC result means the defect is inherited from both parents ( homozygous) so the impact on conversion is much greater so the addition of a little T3 usually helps

A TC or CT result means the defect came from one parent( heterozygous)....impact on conversion may be slight.

A CC result is more likely to help achieve a T3 prescription

More details

paulrobinsonthyroid.com/dio...

[J972 in reply to DippyDame]

Thanks DD, you’re right about the traffic light system being confusing. There’s a lot of extraneous guff as well. Anyhoo, I’m inserting photos of a printed copy of the results in replies below, hopefully that’ll enable someone much smarter than me to unpick it.

[J972 in reply to J972]

1/3

DNA results

[J972 in reply to J972]

2/3

Dna results

[J972 in reply to J972]

3/3

🧬

[DippyDame in reply to J972]

You can use the info that I gave you above to interpret these traffic light results.

[J972 in reply to DippyDame]

Yes thanks Dippy but I’d still need some input about what it all means. I understand the potential implications of the DIO1/2 variants but not the other stuff, tbh. I didn’t realise it’d be so challenging to interpret!

[helvella Administrator Thyroid UK]

This is a highly specific search site which might help:

Search for variants in more than 35 million biomedical publications.

LitVar allows the search and retrieval of variant specific information from relevant studies in the literature, with related concept (e.g., diseases) annotations. By normalizing variant names, LitVar returns the same results regardless of which name of a variant (e.g. BRCA1 p.P871L or c.2612C>T) is used in the query.

ncbi.nlm.nih.gov/research/l...

[J972 in reply to helvella]

Thanks helvella, I’ll take a 👀

[Tanitha]

SNPedia is a useful website. This page shows rs179247 for example.

snpedia.com/index.php/Rs179247

Not all rs numbers are on there and sometimes you have to search for the gene rather than the rs number but it's worth trying to get a better understanding. The traffic light system you mention flags potential issues. Sometimes you would need a combination of mutated genes to be susceptible to a condition and/or also be exposed to environmental conditions. The letters refer to the allele, the version of the gene - one from each parent. Taking rs179247 on SNPedia, if you scroll down the page to the coloured chart it shows a percentage of people and alleles by ethnicity - European ancestry showing 23% and Nigerian 81.5%.

[J972 in reply to Tanitha]

Thanks very much Tanitha, I’ll have a good look around. 🙏