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deCODE Genetics, in Collaboration with Academic Colleagues, Discovers Three Variants in the Sequence of the Human Genome that Affect the Risk of Thyroid Cancer
Date:1/22/2012

REYKJAVIK, Iceland, January 22, 2012 /PRNewswire/ --

Scientists at deCODE Genetics and academic collaborators from Iceland, the USA, The Netherlands and Spaintoday report the discovery of variants in the human genome that associate with levels of thyroid stimulating hormone and risk of thyroid cancer.The paper 'Discovery of common variants associated with low TSH levels and thyroid cancer risk' is published today in the online edition of Nature Genetics.

Using data obtained  byapplying 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 genomewide 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 variantson chromosomes 2q35, 8p12 and 14q13.3 were shown to associate with risk of thyroid cancer, conferring an added risk of 30 - 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.

"This study underscores the important role that the genetics of diversity in normal physiologic function can play in understanding the risk of disease.  To date, the at-risk alleles of all the variants that confer risk of thyroid cancer associate with decreased serum levels of TSH, suggesting that the primary disorder in non-medullary thyroid cancer is an endocrine one, characterized by decreased concentration of TSH," said Kari Stefansson, deCODE's CEO and senior author of the study.  

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