DNA damage and related modifier genes in Italian cystic fibrosis patients

Silvia Sterpone, Tommaso Cornetta, Adriano Angioni, Ersilia Fiscarelli, Vincenzina Lucidi, Antonella Testa, Renata Cozzi

Research output: Contribution to journalArticlepeer-review


Cystic Fibrosis (CF) is an autosomal recessive multisystemic disorder showing a highly heterogeneous phenotype, even among siblings carrying identical CFTR mutations. Moreover, oxidative stress is of central importance in the pathogenesis of cystic fibrosis. The present study seeks to value the presence of oxidative damage in CF patients and the possible modifier effect of repair and glutathione-S-transferase genes. We analysed the presence of DNA damage in leukocytes of 63 CF patients at an Italian CF centre and 63 controls, through the alkaline Comet assay to detect DNA strand breaks. Furthermore, controls and 93 CF subjects were genotyped for 5 genes by RFLP-PCR (XRCC1,OGG1,GSTP1) and PCR assay (GSTM1, GSTT1). No difference in Comet assay values was observed comparing controls to CF patients, although CF subjects showed slightly higher mean values. The crude Odds-Ratio (OR) was higher than one for XRCC1 and GSTP1 genotypes and liver status and for XRCC1 and OGG1 genotypes and pancreatic insufficiency, but in all cases the p-values were not significant. In this case-control study, neither DNA damage nor gene polymorphisms seem to influence CF manifestation.

Original languageEnglish
Pages (from-to)477-486
Number of pages10
JournalBiological Research
Issue number4
Publication statusPublished - 2009


  • Comet assay
  • Cystic fibrosis
  • DNA damage
  • Genetic polymorphisms
  • Modifier genes

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

Fingerprint Dive into the research topics of 'DNA damage and related modifier genes in Italian cystic fibrosis patients'. Together they form a unique fingerprint.

Cite this