A genome-wide association study yields five novel thyroid cancer risk loci

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


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Asian Continental Ancestry Group / genetics
  • Carcinoma, Papillary / genetics*
  • Case-Control Studies
  • Chromosomes, Human / genetics
  • European Continental Ancestry Group / genetics
  • Female
  • Gene Expression Regulation, Neoplastic
  • Gene Frequency / genetics
  • Genetic Loci*
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study*
  • Genomic Structural Variation
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Pituitary Hormones / analysis
  • Risk Factors
  • Thyroid Cancer, Papillary
  • Thyroid Gland / metabolism
  • Thyroid Neoplasms / genetics*
  • Thyroid Neoplasms / metabolism
  • Whole Genome Sequencing


  • Pituitary Hormones