肌球蛋白ⅦA基因多态性与老年急性一氧化碳中毒后迟发性脑病的关联研究

Association between myosinⅦA gene polymorphism and delayed encephalopathy in the elderly after ACMP

目的探讨肌球蛋白ⅦA基因2个单核苷酸多态性(SNP)位点(rs1052030,rs4945149)的多态性与老年急性一氧化碳中毒(ACMP)后迟发性脑病(DEACMP)的潜在关联。方法选择2006年11月~2017年12月河南省豫北地区汉族老年ACMP昏迷后抢救成功且已完成90 d以上随访人群。共收集DEACMP患者外周血标本196例,ACMP患者外周血标本347例。其中包含rs1052030位点,DEACMP患者194例(DEACMP1组);ACMP患者344例(ACMP1组)。其中包含rs4945149位点,DEACMP患者192例(DEACMP2组);ACMP患者340例(ACMP2组)。肌球蛋白ⅦA基因多态性采用Sequenom分型技术检测,并分析其与DEACMP遗传易感性。DEACMP患者病情最严重期间应用常识-记忆力-注意力测验量表(IMCT)及日常生活活动能力量表(ADL)评分。结果DEACMP1组与ACMP1组基因型及等位基因频率比较,差异无统计学意义(P>0.05)。DEACMP2组与ACMP2组基因型及等位基因频率比较,差异无统计学意义(P>0.05)。DEACMP1组CC、TC、TT基因型患者ADL和IMCT评分比较,差异无统计学意义(P>0.05)。DEACMP2组CC、TC、TT基因型患者IMCT和ADL评分比较,差异有统计学意义[(3.12±0.90)分vs(2.37±1.32)分vs(1.71±0.97)分,P=0.000;(55.45±4.86)分vs(60.48±2.66)分vs(64.81±1.99)分,P=0.001]。结论肌球蛋白ⅦA基因2个SNP位点(rs1052030,rs4945149)与DEACMP发病无遗传关联性。

Objective To study the association betweent myosinⅦA single nucleotide polymorphism(SNP)at rs1052030 and rs4945149 and delayed encephalopathy in the elderly after acute carbon monoxide poisoning(ACMP).Methods The elderly Han delayed encephalopathy patients after coma selected from northern Henan Province from November 2006 to December 2017 were successfully treated and followed up for over 90 days,during which 196 and 347 peripheral blood samples were taken from delayed encephalopathy patients.The 194 delayed encephalopathy patients served as delayed encephalopathy group 1 and the 344 ACMP patients served as ACMP group 1,the 192 delayed encephalopathy patients served as delayed encephalopathy group 2 and the 340 encephalopathy patients served as ACMP group 2.Their myosinⅦA SNP at rs1052030 and rs4945149 was detected using the Sequenom MassArray SNP technique.The genetic susceptibility to myosinⅦA SNP and delayed encephalopathy was analyzed.The severity of delayed encephalopathy was assessed according to the IMCT scale score and ADL scale score.Results No significant difference was detected in the genotype and allele frequency between delayed encephalopathy group 1 and ACMP group 1,between delayed encephalopathy group 2 and ACMP group 2(P>0.05).No significant difference was detected in the ADL score and IMCT scale score of pa-tients in delayed encephalopathy group 1 carrying CC,TC and TT genotypes(P>0.05)while significant difference was detected in the ADL score and IMCT scale score of patients in delayed encephalopathy group 2 carrying CC,TC and TT genotypes(3.12±0.90 vs 2.37±1.32 vs 1.71±0.97,P=0.000;55.45±4.86 vs 60.48±2.66 vs 64.81±1.99,P=0.001).Conclusion MyosinⅦA SNP at rs1052030 and rs4945149 is not associated with the genetic delayed encephalopathy.