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. 2017 Feb 14;8:14517.
doi: 10.1038/ncomms14517.

A Genome-Wide Association Study Yields Five Novel Thyroid Cancer Risk Loci

Free PMC article

A Genome-Wide Association Study Yields Five Novel Thyroid Cancer Risk Loci

Julius Gudmundsson et al. Nat Commun. .
Free PMC article


The great majority of thyroid cancers are of the non-medullary type. Here we report findings from a genome-wide association study of non-medullary thyroid cancer, including in total 3,001 patients and 287,550 controls from five study groups of European descent. Our results yield five novel loci (all with Pcombined<3 × 10-8): 1q42.2 (rs12129938 in PCNXL2), 3q26.2 (rs6793295 a missense mutation in LRCC34 near TERC), 5q22.1 (rs73227498 between NREP and EPB41L4A), 10q24.33 (rs7902587 near OBFC1), and two independently associated variants at 15q22.33 (rs2289261 and rs56062135; both in SMAD3). We also confirm recently published association results from a Chinese study of a variant on 5p15.33 (rs2736100 near the TERT gene) and present a stronger association result for a moderately correlated variant (rs10069690; OR=1.20, P=3.2 × 10-7) based on our study of individuals of European ancestry. In combination, these results raise several opportunities for future studies of the pathogenesis of thyroid cancer.

Conflict of interest statement

The authors from deCODE genetics/AMGEN are employees of deCODE genetics/AMGEN. The other authors declare no competing financial interests.


Figure 1
Figure 1. A Manhattan plot of the combined thyroid cancer GWAS results.
The Manhattan plot shows 7.1 million variants with high imputation information score (info≥0.90) from the thyroid cancer meta-analysis of GWAS data from 3,001 patients and 287,550 controls from five study groups of European descent coming from Iceland, the Netherlands, Spain and the USA. Shown are negative log10-transformed P values over 22 autosomes. Previously published risk loci are in black and risk loci reported in current study are in red.

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