Polymorphisms in host immune response associated genes and risk of nasopharyngeal carcinoma development in Portugal

Abstract

Background: Host genetic susceptibility markers in immune response associated genes may contribute to identify individuals with high risk of developing viral infection and viral-associated cancers. We aimed to characterize different polymorphisms in immune response associated genes and evaluate its association with nasopharyngeal carcinoma (NPC) development.

Methods: We have developed a hospital-based case-control study selecting 134 patients with NPC (cases) and 732 healthy individuals (controls) from the Northern Region of Portugal. Eight single nucleotide polymorphisms (SNP) were selected: -56C>T IFNGR1 (rs2234711), +4854G>T IL1A (rs17561), +3954C>T IL1B (rs1143634), +1902A>G IL4RA (rs1801275), -1082G>A IL10 (rs1800896), +2018T>C IL1RN (rs419598), HLA-A locus A>T (rs2530388), HCGA9 locus A>T (rs6457110). All polymorphisms were analysed by real-time methodology using TaqMan(®) SNP Genotyping Assays.

Results: The overall analysis revealed no statistical significant differences between genotypes distributions in all of studied polymorphisms (p>0.05). However, the results for HCGA9 rs6457110 polymorphism showed a tendency for an increased risk of NPC development among TT carriers with an almost of 2-fold increased risk (OR=1.86; 95%CI 1.00-3.65).

Conclusions: This is the first study to characterize these polymorphisms in NPC patients in Portugal. Our study indicates that HCGA9 rs6457110 polymorphism might represent a risk marker for NPC development in our population and that other SNPs should be further studied in larger populations to clarify the evidences. This data reinforces the need for more studies, especially in NPC low-prevalent populations.

Keywords: Cancer; EBV, Epstein–Barr virus; Genetic; NPC, nasopharyngeal carcinoma; Polymophisms; sucsceptibility.