Hypomethylation of human-specific family of LINE-1 retrotransposons in circulating DNA of lung cancer patients

Ildar V. Gainetdinov, Kristina Yu Kapitskaya, Elena Yu Rykova, Anastasia A. Ponomaryova, Nadezda V. Cherdyntseva, Valentin V. Vlassov, Pavel P. Laktionov, Tatyana L. Azhikina

Research output: Contribution to journalArticlepeer-review


Circulating DNA has recently gained attention as a fast and non-invasive way to assess tumor biomarkers. Since hypomethylation of LINE-1 repetitive elements was described as one of the key hallmarks of tumorigenesis, we aimed to establish whether the methylation level of LINE-1 retrotransposons changes in cell-surface-bound fraction of circulating DNA (csbDNA) of lung cancer patients. Methylated CpG Island Recovery Assay (MIRA) coupled to qPCR-based quantitation was performed to assess integral methylation level of LINE-1 promoters in csbDNA of non-small cell lung cancer patients (n = 56) and healthy controls (n = 44). Deep sequencing of amplicons revealed that hypomethylation of LINE-1 promoters in csbDNA of lung cancer patients is more pronounced for the human-specific L1Hs family. Statistical analysis demonstrates significant difference in LINE-1 promoter methylation index between cancer patients and healthy individuals (ROC-curve analysis: n = 100, AUC = 0.69, p = 0.0012) and supports the feasibility of MIRA as a promising non-invasive approach.

Original languageEnglish (US)
Pages (from-to)127-130
Number of pages4
JournalLung Cancer
StatePublished - Sep 1 2016


  • Circulating DNA
  • DNA methylation
  • L1Hs
  • LINE-1
  • Lung cancer
  • MIRA

ASJC Scopus subject areas

  • Oncology
  • Pulmonary and Respiratory Medicine
  • Cancer Research


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