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

• Type: Article in International Scientific Journal
• Date: 2013

Authors

Hugo Sousa (Author) Other; Eduardo Breda (Author) Other; Alexandra M Santos (Author) Other; Raquel Catarino (Author) Other; Daniela Pinto (Author) Other; Paulo Canedo (Author) Other; Jose Carlos Machado (Author) FMUP; Rui Medeiros (Author) ICBAS

Journal

Title: Archives of Oral Biology

Vol. 58

Pages: 1040-1046

ISSN: 0003-9969

Publisher: Elsevier

Indexing

ISI Web of Knowledge - 8 Citations

Scopus - 10 Citations

Scientific classification

FOS: Medical and Health sciences > Clinical medicine

Other information

Authenticus ID: P-006-8W0

DOI: 10.1016/j.archoralbio.2013.02.004

Abstract (EN): 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 7