DNA excision repair and double-strand break repair gene polymorphisms and the level of chromosome aberration in children with long-term exposure to radon

Abstract

Purpose: To study polymorphic variants of repair genes in people affected by long-term exposure to radon. The chromosome aberration frequency in peripheral blood lymphocytes was used as the biological marker of genotoxicity.

Materials and methods: Genotyping of 12 single nucleotide polymorphisms in DNA repair genes (APE, XRCC1, OGG1, ADPRT, XpC, XpD, XpG, Lig4 and NBS1) was performed in children with long-term resident exposure to radon. Quantification of the aberrations was performed using light microscopy.

Results: The total frequency of aberrations was increased in carriers of the G/G genotype for the XpD gene (rs13181) polymorphism in recessive model confirmed by the results of ROC-analysis (‘satisfactory predictor’, AUC = 0.609). Single chromosome fragments frequency was increased in carriers of the G/G genotype in comparison with the T/T genotype. In respect to the total frequency of aberrations, the G/G genotype for the XpG gene (rs17655) polymorphism was also identified as a ‘satisfactory predictor’ (AUC = 0.605). Carriers of the T/C genotype for the ADPRT gene (rs1136410) polymorphism were characterized by an increased level of single fragments relative to the T/T genotype.

Conclusion: The relationships with several types of cytogenetic damage suggest these three SNP (rs13181, rs17655 and rs1136410) may be considered radiosensitivity markers.

Keywords:

• Chromosome aberrations
• clastogenic agents
• DNA-repair
• ionizing radiation
• low dose effects
• radon

Disclosure statement

The authors report no conflicts of interest. The authors alone are response for the content and writing of the paper.

Funding information

This study was funded by RFBR, according to the research project No. 16-34-60069\15 mol_а_dk, Russian Science Foundation grant No. 16-15-00034 and state task No. 2014\64.