The association of three DNA repair genes polymorphisms on the frequency of chromosomal alterations detected by fluorescence in situ hybridization

Abstract

Purpose: Gas station workers (GSWs) are exposed to carcinogenic agents. The aim was to study the association of high somatic chromosome alterations (CAs) rates in the blood of GSWs and the polymorphisms of three genes playing a role in DNA double-strand break repair.

Methods: This is a cross-sectional study with 114 GSWs and 115 age-matched controls. Cytogenetic analyses, blood exams, medical interviews and genotypes for RAD51/G135C (rs1801320), ATM/P1054R (rs1800057) and CHEK2/T470C (rs17879961) genes were performed.

Results: The CA rate in GSWs was 9.8 CAs/1000 metaphases, and 19.1% of the workers had > 10 CAs per 1000 metaphases (group two). GSWs had decreased levels of monocytes (P = 0.024) in their blood exams. The number of variant alleles of the RAD51/G135C polymorphism was higher in GSWs (P = 0.011) compared to the controls, and were associated with enhanced number of CAs per worker (P = 0.008). No allele variant was found for CHEK2/T470C in this study.

Conclusion: The RAD51/G135C polymorphism appears to be related to genome instability in gas station workers. Increasing the knowledge of DNA repair gene variations involved in maintaining genomic stability in GSWs may be crucial for future cancer prevention.

Keywords: ATM/P1054R; Benzene; Chromosome aberration; Gas station worker; RAD51/G135C.

Fig. 1

CAs found in analyses of one female worker. CAs—del(1),der(2),t(2;?), der(4),t(4;?). The homemade probes were conjugated with TexasRed to label chromosome 1 (red), Diethylaminocoumarin (DEAC) for chromosome 2 (lightblue), and fluorescein isothiocyanate (FITC) for chromosome 4 (green). Other chromosomes were counterstained with DAPI (dark blue)