Genome-wide association studies for thyroid physiology and diseases

[helvella]

A very interesting paper.

As an ignorant person who finds some genetics papers very hard to read, let alone understand, I salute the author's attempts to make it understandable. (At least, to begin with.) This paper was written to be understood.

In my view, well worth a couple of attempts to read, if you are interested.

Genome-wide association studies for thyroid physiology and diseases

Satoshi Narumi

Keywords: Genome-wide association study, Genetics, Thyroid cancer, Thyroid function test, Thyroid dysgenesis

Article ID: EJ22-0503

DOI doi.org/10.1507/endocrj.EJ2...

Abstract

Genetic factors are involved in the etiology of most diseases, but prior to 2000, the methods for identifying such factors were very limited. Genome-wide association study (GWAS), developed in the 2000s, is an analytical method that can be applied to most diseases, including endocrine disorders. GWAS has provided a wealth of information on disease risks and the molecular pathogenesis of many human diseases. This review summarizes key findings from GWAS for thyroid physiology and diseases, and illustrates how GWAS is a powerful research tool to elucidate the molecular mechanisms of the diseases.

Free access here:

jstage.jst.go.jp/article/en...

[radd]

helvella,

Analysing and prescribing as per our genetic dispositions surely has to be the way forward when eventually the prescribers become as equally informed as the patients. Or am I dreaming?

This is an interesting read too. .. nature.com/articles/ncomms6681

For others benefit Blue Horizon offers a basic thyroid genome incite and Lifecode a more comprehensive. 

Lifecode sample report static1.squarespace.com/sta...

[helvella Administrator Thyroid UK in reply to radd]

The first step has to be medicine accepting that there are variations!

What concerns me, a lot, is that we will see things (like known DIO1 and DIO1 variants) and assume that they are the only cause.

Novel, sometimes entirely one-off and unique, variations can occur. And would be very easy to miss while we concentrate on specific and relatively well-known variants. Their rarity ensures we will only have extremely limited evidence of their impact - on thyroid or anything else.

I know genetic experts understand. But am still concerned that inappropriate interpretations could be a major issue into the future.

[helvella Administrator Thyroid UK in reply to radd]

In passing, this might be of some interest:

genomicsengland.co.uk/genom...