New Genetic Variants in Thyroid Function Identified

[buddy99]

Sounds to me like more evidence that the one-fits-all approach to thyroid disease(s) could be misguided.

academic.oup.com/jcem/advan...

[Alanna012]

We identified 23 novel TSH-associated SNPs in predominantly hypothalamic-pituitary-thyroid axis genes and 25 novel FT4-associated SNPs in mainly peripheral metabolism and transport genes. Genome-wide SNP variation explained ~21% (SD 1.7) of the total variation in both TSH and FT4 concentrations, whereas SNPs in the 96 TH regulating genes explained 1.9% to 2.6% (SD 0.4).

Well I never.

[diogenes Remembering]

Why genetic differences should seriously affect thyroid function and treatment for dysfunction is very unclear to me. Of course in health. the body takes whatever is necessary to ensure a euthyroid state. How much a single mutation in thyroid activity directly at the gland or elsewhere affects the situation is not at all plain to easily understand. The problem is that for genetics to have a large influence, they have to be very severe to affect routine diagnosis and therapy. That they have some influence is without question, but the intricate makeup of the human body will make such influences minor when put up against the gross changes that happen on loss of thyroid function. Therapy is still a matter of continuous individual monitoring, whether within reference ranges or not. It is not diagnosis by statistics.

[buddy99 in reply to diogenes]

As always, thanks for the insightful input, diogenes. I was also thinking of epigenetics and what influences can bring those genetic variants to bear. Unfortunately I am not very well versed in genetics or epigenetics but I figured someone here might be.

[diogenes Remembering in reply to buddy99]

Everyone of us has genetic modification caused by chemical modification of some of the DNA elements. In extremis, their effects can be fairly obvious. A rather cruel experiment on rats shows this: Mummy and Daddy rats were subjected to great shock trauma by random bursts of electricity - they showed high levels of stress. They bred after this period, and no further stress occurred. But the offspring showed the same anxiety and trepidation as their parents even though they had no experience of the trauma. This is epigenetics at its starkest, but we all are subject to the stresses and storms or upsets that our ancestors suffered. And just where the changes occur and with what importance depends on our individuality combined with the epigenetic effects - that is almost anywhere. I remember a paper where rats were given extra T3, causing some epigenetic changes at specific gene points. Taking them off T3 reduced but did not obliterate the new genetic situation. And also you may not know it, but some of the cells in your body are those directly from your mother or father(that is the same genetics appropriate to mum or dad). We are not completely different in that respect, even though the number of these cells is small.