Genome data provides support for link to thyroid cancer

Recent findings from a large international genetic database provided new insight on genetic mutations known to cause thyroid cancer, according to a press release from Princeton University.

The Genotype-Tissue Expression Consortium is an ongoing study of the human genome that links genetic variation to gene regulation in 44 tissue types. In a recent study, Barbara Engelhardt, PhD, an assistant professor of computer science at Princeton University, and colleagues mapped associations between genetic variants and gene expression levels on different chromosomes, in a process known as trans-expression quantitative trait loci (trans-eQTLs).

Through the tests, one trans-eQTL variant identified was a mutation known to increase the risk for thyroid cancer. The variant was found next to a thyroid-specific transcription factor, called FOXE1, which is a protein that regulates the rate of gene expression in the thyroid.

In previous studies, the effect of FOXE1 was not well-characterized, but these recent findings give support to the impact of this transcription factor.

With these findings, “we can start to think about how to target specific genes for creating therapies for thyroid cancer,” Engelhardt said in the release. “Many thyroid diseases will be impacted by changing the expression levels of the thyroid-specific transcription factor, so we want to investigate more carefully in future work.”