Objective. The aim of this study is to explore the relationship between neuron-specific enolase (NSE) gene polymorphism and delayed encephalopathy after acute carbon monoxide poisoning (DEACMP) and provide a theoretical basis for DEACMP pathogenesis, diagnosis, and prognosis. Methods. To investigate this relationship, we screened 6 NSE single nucleotide polymorphisms (SNPs), based on the results of the previous genome-wide association studies (GWAS). A total of 1,201 patients, including 416 in the DEACMP group and 785 in the acute carbon monoxide poisoning (ACMP) group, were detected by the Sequenom MassARRAY® method. The genotype frequencies and alleles of the 6 NSE SNPs (rs2071074, rs2071417, rs2071419, rs11064464, rs11064465, and rs3213434) were compared using different genetic models. Results. In the SNPs rs2071419 and rs3213434, we found that the genotypes and allele frequencies in the two groups significantly correlated with the grouping of patients (, ; , ). The haplotypes GGTTTC and CCTTTC of ACMP and DEACMP were different (, ; , ). We also observed that rs2071419 and rs3213434 significantly correlated with DEACMP-increased risk in the dominant, codominant, and overdominant genetic models. In addition, we speculated that the C allele of the rs2071419 polymorphism and the T allele of the rs3213434 polymorphism in NSE may increase the DEACMP risk (, ). Conclusions. The results show that rs2071419 and rs3213434 are susceptible sites of DEACMP. The NSE C allele of rs2071419 and T allele of rs3213434 and the haplotypes GGTTTC and CCTTTC may be risk factors for DEACMP.

中文翻译：

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急性一氧化碳中毒后神经元特异性烯醇化酶基因多态性与迟发性脑病的关系

客观。本研究旨在探讨神经元特异性烯醇化酶（NSE）基因多态性与急性一氧化碳中毒（DEACMP）后迟发性脑病的关系，为DEACMP的发病机制、诊断和预后提供理论依据。方法。为了研究这种关系，我们根据之前的全基因组关联研究 (GWAS) 的结果筛选了 6 个 NSE 单核苷酸多态性 (SNP)。Sequenom MassARRAY® 方法共检测出 1,201 名患者，其中 DEACMP 组 416 名，急性一氧化碳中毒 (ACMP) 组 785 名。使用不同的遗传模型比较了 6 个 NSE SNP（rs2071074、rs2071417、rs2071419、rs11064464、rs11064465 和 rs3213434）的基因型频率和等位基因。结果。在 SNP rs2071419 和 rs3213434 中，我们发现两组的基因型和等位基因频率与患者分组显着相关（, ; , ）。ACMP和DEACMP的单倍型GGTTTC和CCTTTC不同（, ; , ）。我们还观察到 rs2071419 和 rs3213434 在显性、共显性和过度显性遗传模型中与 DEACMP 增加的风险显着相关。此外，我们推测 NSE 中 rs2071419 多态性的 C 等位基因和 rs3213434 多态性的 T 等位基因可能会增加 DEACMP 风险。, ）。 结论。结果表明rs2071419和rs3213434是DEACMP的易感位点。rs2071419的NSE C等位基因和rs3213434的T等位基因以及单倍型GGTTTC和CCTTTC可能是DEACMP的危险因素。