Association of SNPs in CDKN2A (P14ARF) Tumour Suppressor Gene With Endometrial Cancer in Postmenopausal Women

In Vivo. 2020 Mar-Apr;34(2):943-951. doi: 10.21873/invivo.11862.

Abstract

Background/aim: This research was aimed to evaluate the association between three selected single nucleotide polymorphisms (SNPs) within the CDKN2A (P14ARF) tumour suppressor gene and the incidence of endometrial cancer (EC) in postmenopausal women.

Patients and methods: The study included 194 postmenopausal women; 144 with EC and 50 non-cancer controls. Genotypes in P14ARF rs3088440, rs3731217 and rs3731245 polymorphisms were assayed using PCR-RFLP and confirmed by sequencing.

Results: Regarding the rs3088440 polymorphism, CT, and CT-TT genotypes, were more prevalent among EC patients than in controls (OR=5.55, p=0.023, OR=5.29, p=0.027; and OR=2.92, p=0.023, respectively). The T allele within rs3088440 was more prevalent in EC females than in controls (χ2=4.7, p=0.030). Considering rs3731217, TG and TG-GG genotypes were less prevalent among EC (OR=0.34, p=0.024 or p=0.023; and OR=0.38, p=0.035, respectively).

Conclusion: Polymorphisms in the CDKN2A gene are associated with EC in postmenopausal women.

Keywords: CDKN2A; P14ARF; endometrial cancer; single nucleotide polymorphisms (SNPs); tumour suppressor gene.

MeSH terms

  • Aged
  • Alleles
  • Alternative Splicing
  • Biomarkers, Tumor
  • Endometrial Neoplasms / etiology*
  • Endometrial Neoplasms / metabolism
  • Endometrial Neoplasms / pathology
  • Female
  • Gene Expression Regulation, Neoplastic
  • Genetic Association Studies
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Middle Aged
  • Neoplasm Staging
  • Polymorphism, Single Nucleotide*
  • Postmenopause*
  • Sequence Analysis, DNA
  • Tumor Suppressor Protein p14ARF / genetics*

Substances

  • Biomarkers, Tumor
  • Tumor Suppressor Protein p14ARF