A polymorphism in the AT-hook motif of the transcriptional regulator AKNA is a risk factor for cervical cancer

Biomarkers. 2010 Aug;15(5):470-4. doi: 10.3109/1354750X.2010.485332.

Abstract

The AKNA gene is part of the 9q32 susceptibility locus for cervical cancer. A single-nucleotide polymorphism at codon 1119 of AKNA, yields a biologically relevant amino acid change (R1119Q) at the DNA binding AT-hook motif. Genotype frequencies in 97 allele pairs were: R/R = 0.597, R/Q = 0.278, Q/Q = 0.123. Q/Q homozygosity was present in 8.33% of healthy controls, 16.67% of patients with cervical intraepithelial neoplasia and 75% of cervical cancer patients. These differences are highly significant for the presence of Q/Q in cervical cancer (p = 0.01, odds ratio 3.66, 95% confidence interval 1.35-9.94). Therefore, AKNA appears to be an important genetic factor associated with the risk cervical cancer.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • AT-Hook Motifs / genetics
  • Adult
  • Alleles
  • DNA-Binding Proteins / genetics*
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease / genetics
  • Genotype
  • Humans
  • Middle Aged
  • Nuclear Proteins / genetics*
  • Odds Ratio
  • Polymorphism, Single Nucleotide*
  • Risk Factors
  • Transcription Factors / genetics*
  • Uterine Cervical Neoplasms / genetics*
  • Uterine Cervical Neoplasms / pathology
  • Young Adult

Substances

  • AKNA protein, human
  • DNA-Binding Proteins
  • Nuclear Proteins
  • Transcription Factors