title: 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.
authors.affiliation: Molecular Oncology & Viral Pathology Group (CI-IPOP), Rua Dr. António Bernardino Almeida, 4200-072 Porto, Portugal; Virology Service, Rua Dr. António Bernardino Almeida, 4200-072 Porto, Portugal. Electronic address: hugomls@gmail.com.
authors.forename: Hugo
authors.initials: H
authors.lastname: Sousa
authors.affiliation: Molecular Oncology & Viral Pathology Group (CI-IPOP), Rua Dr. António Bernardino Almeida, 4200-072 Porto, Portugal.
authors.forename: Letícia
authors.initials: L
authors.lastname: Mesquita
authors.affiliation: Molecular Oncology & Viral Pathology Group (CI-IPOP), Rua Dr. António Bernardino Almeida, 4200-072 Porto, Portugal; Virology Service, Rua Dr. António Bernardino Almeida, 4200-072 Porto, Portugal; Research Department, Portuguese League against Cancer (Liga Portuguesa Contra o Cancro - Núcleo Regional do Norte), Porto, Portugal.
authors.forename: Joana
authors.initials: J
authors.lastname: Ribeiro
authors.affiliation: Molecular Oncology & Viral Pathology Group (CI-IPOP), Rua Dr. António Bernardino Almeida, 4200-072 Porto, Portugal.
authors.forename: Raquel
authors.initials: R
authors.lastname: Catarino
authors.affiliation: Molecular Oncology & Viral Pathology Group (CI-IPOP), Rua Dr. António Bernardino Almeida, 4200-072 Porto, Portugal; Otorhinolaryngology Service, Portuguese Institute of Oncology of Porto Porto FG EPE, Rua Dr. António Bernardino Almeida, 4200-072 Porto, Portugal.
authors.forename: Eduardo
authors.initials: E
authors.lastname: Breda
authors.affiliation: Molecular Oncology & Viral Pathology Group (CI-IPOP), Rua Dr. António Bernardino Almeida, 4200-072 Porto, Portugal; Virology Service, Rua Dr. António Bernardino Almeida, 4200-072 Porto, Portugal; Abel Salazar Institute for the Biomedical Sciences (ICBAS), University of Porto, Porto, Portugal; Research Department, Portuguese League against Cancer (Liga Portuguesa Contra o Cancro - Núcleo Regional do Norte), Porto, Portugal.
authors.forename: Rui
authors.initials: R
authors.lastname: Medeiros
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002277:Carcinoma; D002294:Carcinoma, Squamous Cell / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D016022:Case-Control Studies; D002648:Child; D005260:Female; D015870:Gene Expression; D020022:Genetic Predisposition to Disease; D015234:HLA-A Antigens / Q000235:genetics / Q000276:immunology; D006801:Humans; D016753:Interleukin-10 / Q000235:genetics / Q000276:immunology; D053582:Interleukin-1alpha / Q000235:genetics / Q000276:immunology; D053583:Interleukin-1beta / Q000235:genetics / Q000276:immunology; D008875:Middle Aged; D000077274:Nasopharyngeal Carcinoma; D009303:Nasopharyngeal Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D011379:Prognosis; D017471:Receptors, Interferon / Q000235:genetics / Q000276:immunology; D019948:Receptors, Interleukin-4 / Q000235:genetics / Q000276:immunology; D012189:Retrospective Studies; D000096743:Interferon gamma Receptor
chemical_list: D015234:HLA-A Antigens; D016753:Interleukin-10; D053582:Interleukin-1alpha; D053583:Interleukin-1beta; D017471:Receptors, Interferon; D019948:Receptors, Interleukin-4; D000096743:Interferon gamma Receptor; C508609:IL10 protein, human; C508584:IL1A protein, human; C508585:IL1B protein, human
keywords: Cancer; EBV, Epstein–Barr virus; Genetic; NPC, nasopharyngeal carcinoma; Polymophisms; sucsceptibility