WDR3 gene haplotype is associated with thyroid cancer risk in a Spanish population

Thyroid. 2010 Jul;20(7):803-9. doi: 10.1089/thy.2010.0072.


Background: A member of the genes encoding WD-repeat proteins, the WDR3 gene, maps in the 1p12 region. This region was shown to be associated with thyroid cancer susceptibility in a previous work. In this study we aim to evaluate the contribution of WDR3 to thyroid cancer risk.

Methods: A case-control association study was performed in a total of 402 patients and 479 control subjects from a Spanish population. In the initial phase of the study, 10 single-nucleotide polymorphisms covering the WDR3 region were genotyped in a small group (157 patients and 118 control subjects); next, three of the initial single-nucleotide polymorphisms were further genotyped in the overall population. In addition, WDR3 expression was investigated in 10 thyroid cancer cell lines by RT-PCR and Western blot.

Results: Haplotype analysis revealed that combination of certain WDR3 variants, such as haplotype CAT, increases the risk of thyroid cancer (odds ratio = 1.85, 95% confidence interval = 0.97-3.55, p = 0.063). Further, both messenger RNA transcription and protein expression of WDR3 were altered in human thyroid cancer cells.

Conclusion: These results indicate for the first time that WDR3 is a risk factor to thyroid cancer, suggesting its implication in the etiology of thyroid cancer.

Publication types

  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenocarcinoma, Follicular / epidemiology
  • Adenocarcinoma, Follicular / genetics
  • Adult
  • Carcinoma, Papillary / epidemiology
  • Carcinoma, Papillary / genetics
  • Case-Control Studies
  • Cell Line, Tumor
  • Female
  • Gene Expression Regulation, Neoplastic
  • Gene Frequency
  • Genetic Association Studies
  • Genetic Predisposition to Disease*
  • Haplotypes*
  • Humans
  • Incidence
  • Male
  • Middle Aged
  • Nuclear Proteins / genetics*
  • Nuclear Proteins / metabolism
  • Polymorphism, Single Nucleotide
  • RNA, Messenger / metabolism
  • Risk Factors
  • Spain / epidemiology
  • Thyroid Neoplasms / epidemiology
  • Thyroid Neoplasms / genetics*
  • Up-Regulation
  • Young Adult


  • Nuclear Proteins
  • RNA, Messenger
  • WDR3 protein, human