IL-1RN VNTR polymorphism as a susceptibility marker for nasopharyngeal carcinoma in Portugal

Arch Oral Biol. 2013 Aug;58(8):1040-6. doi: 10.1016/j.archoralbio.2013.02.004. Epub 2013 Apr 3.

Abstract

Background: Nasopharyngeal carcinoma (NPC) is a rare malignancy in Western countries that is widely associated with the infection by Epstein-Barr virus (EBV). Several studies have showed that a common allele (allele 2) of the 86-bp variable number of tandem repeats (VNTR) polymorphism within intron 2 of the interleukin 1 receptor antagonist (IL-1RN) gene is associated with several disorders, including viral-associated cancers.

Methods: We have developed a hospital-based case-control study to characterise the role of the IL-1RN 86-bp VNTR polymorphism in the development of NPC with 112 patients with the disease and 433 healthy individuals from the northern region of Portugal. IL-1RN genotypes were combined according to the number of repeats: allele 2 (A2), the short allele that corresponds to two repeats, and L, the long allele that corresponds to three or more repeats.

Results: Our study revealed that 31.2% of NPC patients were IL-1RN A2*A2, compared with 9.7% observed in the control group. The statistical analysis revealed that IL-1RN*A2 homozygosity for the A2 allele was associated with a fourfold increased risk for NPC development (p<0.001). Additionally, cumulative hazard analysis revealed that estimated median age of onset of NPC is significantly (p<0.001) different for A2*A2 homozygous versus non-A2*A2 (57.0 vs. 74.0, respectively).

Conclusions: This is the first study to evaluate the role of the IL-1RN VNTR in NPC development in Portugal. Our study indicates IL-1RN*A2 homozygosity as a significant risk marker in our population and that it should be further investigated for the potential role in the definition of a susceptibility profile for NPC onset.

Publication types

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

MeSH terms

  • Adult
  • Age of Onset
  • Alleles
  • Base Pairing / genetics
  • Carcinoma / genetics*
  • Case-Control Studies
  • Female
  • Genetic Markers
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Homozygote
  • Humans
  • Interleukin 1 Receptor Antagonist Protein / genetics*
  • Introns / genetics
  • Male
  • Middle Aged
  • Minisatellite Repeats / genetics*
  • Nasopharyngeal Neoplasms / genetics*
  • Polymorphism, Genetic / genetics*
  • Portugal
  • Risk Factors

Substances

  • Genetic Markers
  • Interleukin 1 Receptor Antagonist Protein