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.
Why study the thyroid gland and the hormones it produces?
The thyroid is an important endocrine gland in the human body. Thyroid hormones (triiodothyronine, thyroxin and calcitonin) are essential for childhood development and adult health.
Synthetic thyroid hormones are among the most common drug therapies prescribed worldwide, yet to date the genetic control of these hormones has been poorly understood.
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.
Source: The University of Western Australia (UWA)