Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations

Nat Genet. 2009 Apr;41(4):460-4. doi: 10.1038/ng.339. Epub 2009 Feb 6.

Abstract

In order to search for sequence variants conferring risk of thyroid cancer we conducted a genome-wide association study in 192 and 37,196 Icelandic cases and controls, respectively, followed by a replication study in individuals of European descent. Here we show that two common variants, located on 9q22.33 and 14q13.3, are associated with the disease. Overall, the strongest association signals were observed for rs965513 on 9q22.33 (OR = 1.75; P = 1.7 x 10(-27)) and rs944289 on 14q13.3 (OR = 1.37; P = 2.0 x 10(-9)). The gene nearest to the 9q22.33 locus is FOXE1 (TTF2) and NKX2-1 (TTF1) is among the genes located at the 14q13.3 locus. Both variants contribute to an increased risk of both papillary and follicular thyroid cancer. Approximately 3.7% of individuals are homozygous for both variants, and their estimated risk of thyroid cancer is 5.7-fold greater than that of noncarriers. In a study on a large sample set from the general population, both risk alleles are associated with low concentrations of thyroid stimulating hormone (TSH), and the 9q22.33 allele is associated with low concentration of thyroxin (T(4)) and high concentration of triiodothyronine (T(3)).

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 4*
  • Chromosomes, Human, Pair 9*
  • DNA-Binding Proteins / genetics
  • Europe / epidemiology
  • Forkhead Transcription Factors / genetics
  • Genetic Predisposition to Disease / genetics*
  • Genetic Variation*
  • Humans
  • Thyroid Neoplasms / epidemiology*
  • Thyroid Neoplasms / genetics*
  • Thyrotropin / blood
  • Thyroxine / blood
  • Transcription Factors
  • Triiodothyronine / blood

Substances

  • DNA-Binding Proteins
  • FOXE1 protein, human
  • Forkhead Transcription Factors
  • TTF1 protein, human
  • Transcription Factors
  • Triiodothyronine
  • Thyrotropin
  • Thyroxine