Abstract
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 (χ2 = 6.596, p = 0.037; χ2 = 8.769, p = 0.012). The haplotypes GGTTTC and CCTTTC of ACMP and DEACMP were different (χ2 = 6.563, p = 0.010; χ2 = 4.151, p = 0.042). 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 (p = 0.011, p = 0.006). 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.
Highlights
Carbon monoxide (CO) poisoning is the most common health problem in many countries [1]
This study explored the relationship between neuron-specific enolase (NSE) gene polymorphism and Delayed encephalopathy after acute carbon monoxide poisoning (DEACMP) genetic susceptibility and provided theoretical basis for DEACMP pathogenesis, diagnosis, and prognosis
Our previous studies showed that myelin basic protein (MBP), NSE, 5-HT, and DA protein levels were significantly abnormal in serum and cerebrospinal fluid (CSF), suggesting that these biochemical markers existed in the pathogenesis of DEACMP that was mediated brain injury [22, 23]
Summary
Carbon monoxide (CO) poisoning is the most common health problem in many countries [1]. Delayed encephalopathy after acute carbon monoxide poisoning (DEACMP) is one of its most common complications [2], which has an incidence rate ranging between 0.2% and 47% [3]. After 260 days of “false recovery period” from acute carbon monoxide poisoning (ACMP), neuropsychiatric disorders appear, including dementia, convulsion, chronic headache, and pyramidal and extrapyramidal disorders [3, 4]. Epidemiological studies have found that 10%-30% of ACMP patients have relapse of mental or neurological symptoms, including emotional loss of control; memory, behavioral, and cognitive disorders; and even severe dementia, which are common causes of neurological complications [5]. DEACMP is common in the clinical practice, and its pathological changes are associated with an extensive demyelination and partial neuron loss in brain white matter and an axonal degeneration and necrosis which mainly involve
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