Polymorphisms in DNA repair genes in lung cancer patients living in a coal-mining region

Abstract

Air pollutants and ionizing radiation are well-known carcinogens involved in the pathogenesis of lung cancer, and residents of coal-mining regions are exposed routinely to these agents. Polymorphisms in DNA repair genes may be associated with an increased risk of malignant transformation. We investigated associations between the risk of lung cancer in residents of the coal-mining region and polymorphisms in the genes APEX1 (rs1130409), hOGG1 (rs1052133), XRCC1 (rs25489, rs25487), XRCC2 (rs3218536), XRCC3 (rs861539), ADPRT/PARP1 (rs1136410), XPD/ERCC2 (rs13181), XPG/ERCC5 (rs17655), XPC (rs2228001), ATM (rs1801516), and NBS1 (rs1805794). Three hundred and forty residents of the Kemerovo Region (a coal-mining region of western Siberia) were lung cancer patients exposed to air pollutants and ionizing radiation (case) and 335 were healthy donors (control). Genotyping was performed by real-time PCR and allele-specific PCR. We discovered that polymorphisms in the XPD gene in men [log-additive model: odds ratio (OR) = 1.64, 95% confidence interval (CI): 1.17–2.31], the ATM gene in women and nonsmokers (codominant model: OR = 0.11, 95% CI: 0.02–0.49 and OR = 0.25, 95% CI: 0.08–0.72, respectively), the APEX1 gene for smokers (recessive model: OR = 2.55, 95% CI: 1.34–4.85), and the NBS1 gene for those who work in the coal industry (overdominant model: OR = 0.40, 95% CI: 0.21–0.75) are associated with an increased risk of lung cancer. Using the multifactor dimensionality reduction method, we found a model of gene–gene interactions associated with the risk of lung cancer: NBS1 (rs1805794)–XRCC1 (rs25487)–hOGG1 (rs1052133)–XPG (rs17655). These results indicate an association between combinations of polymorphisms in the studied genes and the risk of lung cancer in residents of a coal-mining region.

Haplotypes of single cancer driver genes and their local ancestry in a highly admixed long-lived population of Northeast Brazil

“…, 2017 ; Liu et al , 2018 ) rs4986765 ( Oussalah et al , 2017 ) AC (11.7%) 1 56.42 0.526 0.96-1.0 AT (18.8%) 1 56.42 0.526 0.96-1.0 19p13 XRCC1 CTGC (33.5%) rs25487 rs25486 rs1799782 rs762507 -0.97 104.68 0.879 0.94-1.0 rs25487 ( Roberts et al , 2011 ; Jin et al , 2015 ; Zhu et al , 2016 ; Alimu et al. , 2018 ; Smolarz and Romanowicz, 2018 ; Qiao et al , 2018 ; Minina et al , 2019 ; Liu et al , 2019 ; Aboul Enein et al , 2020 ; Cai et al , 2020 ; Smolarz et al , 2019 ) rs25486 ( Roberts et al , 2011 ) rs1799782 ( Alimu et al , 2018 ; Bashir et al. , 2018 ; Li et al , 2018 ; Zhu et al.…”

The Association of ERCC1 and ERCC5 Polymorphisms with Lung Cancer Risk in Han Chinese

“…In the high incidence region of Hebei Province, the C/C genotype of XPC exon 15 appears to increase the risk of developing esophageal squamous cell carcinoma in the non-smoking population 6 . Polymorphisms in DNA repair genes may be related to an increased risk of malignant transformation in lung cancer, especially among smokers and residents of coal mining areas 34 .…”

A meta-analysis of XRCC1 single nucleotide polymorphism and susceptibility to gynecological malignancies

“…The relationship between XRCC1 polymorphism and susceptibility to malignant tumors (such as nasopharyngeal cancer, breast cancer, lung cancer, stomach cancer, liver cancer, pancreatic cancer, colorectal cancer, prostate cancer, glioma, etc) has been reported many times. [9][10][11][12][13][14][15] Among the 3 nonsynonymous mutated SNPs, Arg399Gln, and Arg194Trp were most correlated with cervical cancer susceptibility, but the conclusions were inconsistent. Therefore, this study used metaanalysis method to explore the relationship between XRCC1 Arg399Gln, Arg194Trp, Arg280His and susceptibility to 3 common female reproductive system tumors.…”