Polymorphisms in rs 13181 of ERCC2 gene in the personnel of Stepnogorsk gorno chemiches kombinat, Kazakhstan

Abstract

The possibility of mutations in human somatic cells induced by action of radiation in low doses is a subject of investigations and discussion. The protein encoded by ERCC2 (XPD) gene is involved in transcription‐coupled nucleotide excision repair and is associated with some types of cancer. The aim of this study was to determine the influence of chronic action of radiation in low doses to the level of the single nucleotide polymorphisms in DNA of the personnel of uranium enrichment plant, Akmola, Kazakhstan. The sample set consisted of 234 (52–Kazakhs, 182–Russians) men workers of and the control group includes 289 (129–Kazakhs, 160–Russians). Genotyping was performed by restriction fragments length polymorphism analysis of PCR products of the rs13181 site (T/G) of (T/G) of ERCC2 gene using PstI. In the case‐control studythe allele frequencies and genotypes distribution were compared in the groups of personnel and controlsusing STATISTICA v. 5.0 software.The differences in allele frequencies and genotypes distribution in the groups of personnel and controls were evaluated neither in Kazakh nor in Russian groups. At the next stage comparing of allele frequencies and genotypes distribution was performed in the subgroups of the workers divided according accumulated dose: less than 40 mZv, 40‐100 mZv.The differences were found in genotype distribution only in the group of 50 Russian workers with accumulated dose 40–100 mZv compared with 100 of controls: χ2=6.796, p=0.033, OR=1.363, 95%CI=0.844‐2.201. The group of persons who accumulated dose more than 100 mZv encountered only 5 persons and was not included in calculations.