OBJECTIVE The base excision repair (BER) pathway and nucleotide excision repair (NER) pathway play important roles in the repair of benzene-induced genetic damage, and the effects of polymorphisms in these pathways on genetic damage and global DNA methylation are of great interest. METHODS Ten single nucleotide polymorphisms (SNPs) in the BER (XRCC1: rs25489, rs25487; APE1: rs1130409) and NER pathways (XPA: rs1800975; XPC: rs2228000, rs2228002; XPD: rs13181, rs1799793; XPG: rs17655; ERCC1: rs3212986) were analyzed by a Kompetitive allele-specific PCR (KASP) assay to find associations with cytokinesis-block micronucleus (MN) frequency and global DNA methylation in 294 shoe factory workers and 102 control participants. RESULTS Workers who possessed the following genotypes were associated with high MN frequency: rs25487 AA (FR (95% CI): 1.50 (1.16,1.9), p = 0.002, reference GG); rs1130409 GG (FR (95% CI): 1.28 (1.05,1.55), p = 0.010, reference TT); rs17655 GC (FR (95% CI): 1.18 (1.02,1.38), p = 0.038, reference GG); and rs3212986 TT (FR (95% CI): 1.55 (1.31,1.83), p < 0.001, reference GG). Workers with four and three mutant alleles showed 3.72-fold (OR (95% CI): 3.72 (1.34, 10.03), p = 0.009) and 2.48-fold (OR (95% CI): 2.48 (1.27, 4.88), p = 0.008) increased risk of genetic damage compared with workers with no or one mutant allele, and a dose-response relationship was found by the trend test (p = 0.006). The rs1130409 variant allele (GG+GT) was associated with low global DNA methylation (β=-0.20, 95% CI: -0.42, 0.03, p = 0.045). CONCLUSION In benzene-exposed workers, BER and NER pathway polymorphism haplotypes are associated with different levels of chromosome damage and had little effect on global DNA methylation.

中文翻译：

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苯暴露工人的BER和NER途径多态性单倍型和微核频率与全球DNA甲基化的关联：DNA修复基因多态性对遗传损伤的影响。

目的碱基切除修复（BER）途径和核苷酸切除修复（NER）途径在苯诱导的遗传损伤修复中起着重要作用，这些途径中的多态性对遗传损伤和总体DNA甲基化的影响引起了广泛的关注。方法BER中的十个单核苷酸多态性（SNP）（XRCC1：rs25489，rs25487; APE1：rs1130409）和NER途径（XPA：rs1800975; XPC：rs2228000，rs2228002; XPD：rs13181，rs1799793; XPG：rs17655; ERCC）通过竞争竞争性等位基因特异性PCR（KASP）分析进行分析，以发现与294个制鞋厂工人和102个对照参与者的胞质分裂阻滞微核（MN）频率和全球DNA甲基化相关。结果具有以下基因型的工人与MN高频率相关：rs25487 AA（FR（95％CI）：1.50（1.16，1.9），p = 0.002，参考GG）；rs1130409 GG（FR（95％CI）：1.28（1.05,1.55），p = 0.010，参考TT）; rs17655 GC（FR（95％CI）：1.18（1.02,1.38），p = 0.038，参考GG）; rs3212986 TT（FR（95％CI）：1.55（1.31,1.83），p <0.001，参考GG）。具有四个和三个突变等位基因的工人显示3.72倍（OR（95％CI）：3.72（1.34，10.03），p = 0.009）和2.48倍（OR（95％CI）：2.48（1.27，4.88），p与没有突变等位基因或只有一个突变等位基因的工人相比，遗传损伤的风险增加了（0.008），并且通过趋势检验发现了剂量-反应关系（p = 0.006）。rs1130409变异等位基因（GG + GT）与低总体DNA甲基化相关（β= -0.20，95％CI：-0.42，0.03，p = 0.045）。结论在接触苯的工人中，