Thyroid cancer risk discovery by deCODE Genetics and collaborators

Scientists at Iceland-based human genome specialist deCODE Genetics and academic collaborators from Iceland, the USA, the Netherlands and Spain report the discovery of variants in the human genome that associate with levels of thyroid stimulating hormone and risk of thyroid cancer. The paper, titled Discovery of common variants associated with low TSH levels and thyroid cancer risk, is published in the on-line edition of Nature Genetics.

Using data obtained by applying both Illumina whole-genome sequencing technology and Illumina SNP chip technology, deCODE's scientists performed a genome wide association study on levels of thyroid stimulating hormone (TSH) in 27,758 Icelanders. 22 SNPs with genome-wide significance were discovered, of which one, rs965513 had previously been shown to associate with thyroid cancer. The remaining 21 SNPs were genotyped in 561 Icelandic thyroid cancer cases and 40,013 controls. Variants suggestively associated with thyroid cancer were then genotyped in an additional 595 non-Icelandic cases and 2,603 controls.

After combining the results, three separate variants on chromosomes 2q35, 8p12 and 14q13.3 were shown to associate with risk of thyroid cancer, conferring an added risk of 30% to 100%, compared to the general population. These variants were also found to associate with low levels of TSH, a key regulator in the biology and endocrinology of the thyroid gland.