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Analysis of 4 Single-Nucleotide Polymorphisms in Relation to Cervical Dysplasia and Cancer Development Using a High-Throughput Ligation-Detection Reaction Procedure
  1. Helmut von Keyserling*,
  2. Thomas Bergmann,
  3. Miriam Schuetz*,
  4. Ursula Schiller*,
  5. Jonas Stanke*,
  6. Corinna Hoffmann*,
  7. Achim Schneider, MD, MPH*,
  8. Hans Lehrach, PhD,
  9. Andreas Dahl, PhD and
  10. Andreas M. Kaufmann, PhD*
  1. * Laboratory for Gynecologic Tumor Immunology, Clinic for Gynecology, Charité-Universitaetsmedizin Berlin; and
  2. Max-Planck Institute for Molecular Genetics, Berlin, Germany.
  1. Address correspondence and reprint requests to Andreas M. Kaufmann, PhD, Gynecologic Tumor Immunology, Clinic for Gynecology, Charité-Universitaetsmedizin Berlin, Campus Mitte and Benjamin Franklin, Hindenburgdamm 30, 12200 Berlin, Germany. E-mail: andreas.kaufmann{at}


Background Host genetic characteristics and environmental factors may correlate with risk for cervical cancer development. Here we describe a retrospective screening study for single nucleotide polymorphisms (SNPs) in genetic markers TP53, MTHFR, CYP1A1, and CYP2E1 in 749 patients.

Methods A multiplex ligation-dependent polymerase chain reaction approach was applied. We used archived material from human papillomavirus tests and correlated SNP genotypes to the corresponding clinical data. Semantic integration was used to identify and evaluate the clinical status from electronic health records.

Results An association with cervical cancer and high-grade dysplasia was found for the rare homozygous CC genotype (rs4646903) in CYP1A1 (odds ratio [OR], 8.862). Odds ratios were also significantly elevated for heterozygous MTHFR CT genotype (rs1801133; OR, 1.457). No significant association was found in TP53 (rs1042522) and CYP2E1 (rs3813867). In addition, we found smokers at higher risk (OR, 2.688) and identified pregnancies as a significant risk factor (OR, 1.54).

Conclusions Our protocol enables a feasible way for further retrospective large sample size evaluation of potential genetic markers. This study revealed genetic associations of a rare SNP genotype with cervical dysplasia in one of the largest patient sample to date that warrants further investigation.

  • P53 and TP53
  • CYP1A1
  • CYP2E1
  • HPV
  • Cervical cancer

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  • The authors have no conflicts of interest to declare.