In the largest study of its kind, scientists have pinpointed more than 100 genes linked to thyroid conditions. The researchers analyzed the genomes of nearly 250,000 people of European ancestry to understand how genetics influence thyroid disease risk. They looked for differences in the genomes of people with different levels of TSH, a hormone strongly linked to thyroid conditions.
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The researchers found 112 genes that may affect TSH levels and therefore, people’s thyroid disease risk. Some of the genes are involved in blood vessel growth and the survival of nerve cells. This could potentially lead to a better understanding of how thyroid disease develops and the identification of new therapeutic targets.
The scientists used their findings to predict people’s risk of hyperthyroidism and hypothyroidism and generated “risk scores” for hundreds of people with European ancestry. By comparing people’s risk scores with actual cases of thyroid conditions, the team found their risk scores accurately predicted people’s chances of developing the disease. The risk scores reflected a sliding scale of risk, where people with the highest scores were more likely to have hypothyroidism and those with the lowest scores were more likely to have hyperthyroidism.
While such risk scores could prompt those at high risk to make beneficial lifestyle changes, current diagnostic tools, such as a TSH measurement, will not be replaced by genetic profiling. The scientists emphasize the need to study more diverse ancestries to prevent health inequalities.
In conclusion, the new study substantially advances our understanding of the genetic architecture of thyroid function and thyroid disease and could allow doctors to predict who is most at risk of developing the conditions. Further research is necessary to understand how these genes contribute to thyroid disease and how the findings can be applied to improve health outcomes.