Date Published: 9 March 2015

New research advances understanding of borderline thyroid condition

A new international study of thyroid hormone levels has just been published in the journal Nature Communications.

This is important because even though it has been estimated that thyroid disease might affect up to 10% of the global population, the scientific community has only recently begun to really understand the genetic architecture of thyroid levels.

The recent study involved the study of data from 16,000 people around the world including those in the Busselton Thyroid Study (part of the Busselton Population Health Study which began in Australia during the 1960s), and other large population studies including TwinsUK, the UK-based Avon Longitudinal Study of Parents and Children, and major studies conducted in Italy.

Prof Wilson of the University of Western Australia together with the other members of the research team identified rare variants associated with thyroid hormone levels which could not have been detected in earlier studies. The project resulted in the discovery of a "new" gene called SYN2 which appears to play an important role in the control of thyroid stimulating hormone.

Prof. Wilson explained that:

" The whole genome sequence data has enabled us to identify that both common genetic variants with modest effects and rarer genetic variants with larger effects determine a person's thyroid status."

Clinical Prof. John Walsh, who was also involved in the study, added:

" This has implications for the diagnosis and treatment of hypothyroidism (thyroid underactivity). Some people may have borderline thyroid function tests because they have inherited rare genetic variants and not because of thyroid disease. In which case, they don't need to be treated with prescription medicines."

It seems that one possible outcome of this work might be that some people who might otherwise have been prescribed unnecessary medications might not receive such medication in the future - potentially reducing costs, inconvenience to patients and, importantly, patient anxiety.

Ref. to Paper:
Peter N. Taylor et.al., Eleonora Porcu, Shelby Chew, Purdey J. Campbell, Michela Traglia, Suzanne J. Brown, Benjamin H. Mullin, Hashem A. Shihab, Josine Min, Klaudia Walter, Yasin Memari, Jie Huang, Michael R. Barnes, John P. Beilby, Pimphen Charoen, Petr Danecek, Frank Dudbridge, Vincenzo Forgetta, Celia Greenwood, Elin Grundberg, Andrew D. Johnson, Jennie Hui, Ee M. Lim, Shane McCarthy, Dawn Muddyman, Vijay Panicker, John R.B. Perry, Jordana T. Bell, Wei Yuan, Caroline Relton, Tom Gaunt, David Schlessinger, Goncalo Abecasis, Francesco Cucca, Gabriela L. Surdulescu, Wolfram Woltersdorf, Eleftheria Zeggini, Hou-Feng Zheng, Daniela Toniolo, Colin M. Dayan, Silvia Naitza, John P. Walsh, Tim Spector, George Davey Smith, Richard Durbin, J. Brent Richards, Serena Sanna, Nicole Soranzo, Nicholas J. Timpson, Scott G. Wilson & The UK0K Consortium (2015), Whole-genome sequence-based analysis of thyroid function Nature Communications 6 :5681. DOI: 10.1038/ncomms6681.
First published online: 06 March 2015.

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