Zhang Fan, Zeng Jiao, Zhang Xiaoli, Gu Jiapeng, Han Yongkai, Zhang Ping, Li Wenqiang, Gu Renjun
Neurology department, The Second Affiliated Hospital of Xinxiang Medical University, Henan Mental Hospital, Xinxiang, Henan, China.
Henan Key Lab of Biological Psychiatry of Xinxiang Medical University, International Joint Research Laboratory for Psychiatry and Neuroscience of Henan, Xinxiang, Henan, China.
Neurotoxicology. 2023 Jan;94:217-222. doi: 10.1016/j.neuro.2022.12.002. Epub 2022 Dec 5.
Increasing evidence reveals that delayed encephalopathy after acute carbon monoxide poisoning (DEACMP) results from the combined effects of environmental and genetic factors. The main pathological feature of DEACMP was generalized demyelination of cerebral white matter. Myelin basic protein (MBP) levels in cerebrospinal fluid (CSF) and serum samples from DEACMP patients were elevated. This study investigated the association of MBP single nucleotide polymorphisms(SNPs) (rs470555, rs470724, rs4890785, rs595997, rs76452994, and rs921336) with DEACMP. We genotyped 416 DEACMP patients and 785 age, educational level, and sex-matched ACMP patients for rs470555, rs470724, rs4890785, rs595997, rs76452994, and rs921336 SNPs using the Agena MassArray. There were no significant differences in the allele frequency distribution, four genetic models, and genotype distributions between the DEACMP and ACMP groups for rs470555, rs470724, rs4890785, and rs595997. However, significant differences were observed for rs76452994 and rs921336. This study revealed that the MBP polymorphisms, rs470555, rs470724, rs4890785, and rs595997, were not associated with DEACMP. Based on the codominant, dominant, and overdominant genetic inheritability patterns, the MBP rs76452994 and rs921366 polymorphisms were associated with DEACMP. Furthermore, the G allele of rs76452994 and T allele of rs921336 could lead to higher DEACMP risk.
越来越多的证据表明,急性一氧化碳中毒后迟发性脑病(DEACMP)是环境因素和遗传因素共同作用的结果。DEACMP的主要病理特征是脑白质广泛脱髓鞘。DEACMP患者脑脊液(CSF)和血清样本中的髓鞘碱性蛋白(MBP)水平升高。本研究调查了MBP单核苷酸多态性(SNP)(rs470555、rs470724、rs4890785、rs595997、rs76452994和rs921336)与DEACMP的关联。我们使用Agena MassArray对416例DEACMP患者和785例年龄、教育水平和性别匹配的急性一氧化碳中毒(ACMP)患者进行rs470555、rs470724、rs4890785、rs595997、rs76452994和rs921336 SNP基因分型。rs470555、rs470724、rs4890785和rs595997在DEACMP组和ACMP组之间的等位基因频率分布、四种遗传模型和基因型分布没有显著差异。然而,rs76452994和rs921336存在显著差异。本研究表明,MBP多态性rs470555、rs470724、rs4890785和rs595997与DEACMP无关。基于共显性、显性和超显性遗传模式,MBP rs76452994和rs921366多态性与DEACMP有关。此外,rs76452994的G等位基因和rs921336的T等位基因可能导致更高的DEACMP风险。