Analysis of polymorphism in the survivin gene promoter as a potential risk factor for head and neck cancers development

Srp Arh Celok Lek. 2013 May-Jun;141(5-6):304-7. doi: 10.2298/sarh1306304k.

Abstract

Introduction: Association studies have shown that gene polymorphisms in various classes of genes can modulate cancer risk. The -31G/C polymorphism in the promoter of survivin gene, affects the expression of the anti-apoptotic protein survivin which in turn may predispose an individual to some types of cancer.

Objective: The aim of the study was to determine whether the survivin promoter -31G/C polymorphism could be a susceptibility factor for squamous cell carcinoma (SCC) of the oral cavity and basal cell carcinoma (BCC) of the skin.

Methods: The DNA obtained from 88 patients with SCC, 60 patients with BCC and 111 healthy individuals was subjected to polymerase chain reaction-restriction fragment length polymorphism analysis (PCR-RFLP) in order to determine genotype and allele frequencies in patients and control groups. Logistic regression was used for cancer risk assessment.

Results: The following distribution of genotypes was obtained: CC genotype 15% in the SCC group, 13% in the BCC group and 12% in controls; CG genotype 41% in SCCs, 35% in BCCs, 48% in controls; GG genotype 44% in SCCs, 52% in BCCs and 40% in controls. Allelic frequencies were as follows: G allele 0.65 in SCCs, 0.69 in BCCs and 0.64 in the control group; C allele 0.35 in SCCs, 0.31 in BCCs and 0.36 in the control group. There was no statistically significant difference in allele or genotype frequencies between the patients and controls (p>0.05).

Conclusion: In Serbian population, -31G/C polymorphism in the promoter of the survivin gene cannot be considered as a risk factor for oral squamous cell carcinoma and skin basal cell carcinoma.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Amplified Fragment Length Polymorphism Analysis
  • Apoptosis Regulatory Proteins / genetics
  • Carcinoma, Basal Cell* / genetics
  • Carcinoma, Basal Cell* / pathology
  • Carcinoma, Squamous Cell* / genetics
  • Carcinoma, Squamous Cell* / pathology
  • Case-Control Studies
  • Female
  • Genetic Predisposition to Disease
  • Head and Neck Neoplasms* / genetics
  • Humans
  • Inhibitor of Apoptosis Proteins / genetics*
  • Male
  • Middle Aged
  • Mouth Neoplasms* / genetics
  • Mouth Neoplasms* / pathology
  • Polymorphism, Genetic
  • Promoter Regions, Genetic
  • Skin Neoplasms* / genetics
  • Skin Neoplasms* / pathology
  • Survivin

Substances

  • Apoptosis Regulatory Proteins
  • BIRC5 protein, human
  • Inhibitor of Apoptosis Proteins
  • Survivin