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Updated: Mar 30, 2026

Immunostaining for DNA Modifications: Computational Analysis of Confocal Images
Published on: September 7, 2017
The interaction between DNA methylation and single-nucleotide polymorphism in regulating the mRNA expression of
Aixiang Liu1, Yuxin Shi2, Xin Li3
1Department of Environmental Health, School of Public Health, Shanxi Medical University, Jinzhong, Shanxi 030600, China; Department of Health Information Management, Shanxi Medical University Fenyang College, Fenyang, Shanxi 032200, China; Center for Ecological Public Health Security of Yellow River Basin, Shanxi Medical University, Jinzhong, Shanxi 030600, China; Key Laboratory of Coal Environmental Pathogenicity and Prevention Shanxi Medical University, Ministry of Education, Jinzhong, Shanxi 030600, China.
Abstract:
While polycyclic aromatic hydrocarbon (PAH) exposure is widely known to influence the expression of metabolic enzyme genes, the roles of DNA methylation and single-nucleotide polymorphisms (SNPs) remain unclear. This study aimed to investigate the interplay between DNA methylation and SNPs on the mRNA expression of CYP1A1, GSTP1, and GSTM1. Participants were divided into the low- (n = 63) and high-exposure (n = 118) groups based on environmental monitoring data. Urinary 1-hydroxypyrene (1-OH-Pyr) concentration was measured using high-performance liquid chromatography (HPLC), mRNA expression, DNA methylation, and genotype of CYP1A1, GSTP1, and GSTM1 were assessed using real-time PCR, methylation-specific PCR (MSP), and Kompetitive Allele-Specific/Multiplex PCR (KASP), respectively. The individual and combined associations between 1-OH-Pyr levels, DNA methylation, SNPs, and mRNA expression were analyzed using multiple linear regression, analysis of covariance (ANCOVA), and generalized linear models (GLM). Compared to the low-exposure group, the high-exposure group exhibited significantly elevated 1-OH-Pyr levels, decreased mRNA expression of CYP1A1, GSTP1, and GSTM1, hypermethylation of CYP1A1 and GSTM1, and hypomethylation of GSTP1. The CYP1A1 rs1048943 wild type, the mutant type of GSTP1 rs1695 and GSTM1 (+/-)were negatively correlated with their respective mRNA expression. Furthermore, CYP1A1 hypermethylation and the rs1048943 mutant type showed a significant interaction effect on gene expression, jointly resulting in a marked decrease in mRNA levels. These results indicate that PAH exposure is associated with suppressed mRNA expression of CYP1A1, GSTP1, and GSTM1, which are influenced by DNA methylation and SNPs. Notably, the interaction between CYP1A1 hypermethylation and the rs1048943 mutant type is significantly negatively associated with CYP1A1 mRNA expression.
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