CDH17和LRP1B基因多态性与一氧化碳中毒后迟发性脑病的相关性

目的探讨CDH17(Cadherin-17,钙粘蛋白17)和LRP1B(低密度脂蛋白受体相关蛋白1B,low-density lipoprotein receptor-related protein 1B)基因多态性与一氧化碳(CO)中毒后迟发性脑病(delayed encephalopathy,DEACMP)的相关性。方法选取2008-06—2016-06收入我院神经内科的CO中毒患者,分为DEACMP组和急性一氧化碳中毒(acute carbon monoxide poisoning,ACMP)组,分别检测2组CDH17基因位点(rs2513796)、LRP1B基因位点(rs1541976,rs10183908)SNP分型。结果 2组LRP1B基因位点(rs1541976)分布及等位基因频率比较有显著性差异(P0.05)。2组女性间位点基因型分布及等位基因频率比较无明显差异(P0.05),而男性患者间位点基因型分布及等位基因频率比较差异有统计学意义(P0.05)。DEACMP组男、女患者间基因型分布比较有显著性差异(P0.05),而等位基因频率比较无明显差异(P0.05)。ACMP组男、女患者间基因型分布及等位基因频率比较无明显差异(P0.05)。2组男或女之间LRP1B基因位点(rs10183908)的基因型分布及等位基因频率均比较无明显差异(P0.05)。2组间CDH17基因位点(rs2513796)的基因型分布及等位基因频率比较无明显差异(P0.05)。结论 LRP1B基因位点(rs1541976)的基因多态性与DEACMP具有相关性,其中男性ACMP患者发生DEACMP的危险性增加,A/C基因型增加患病风险,C等位基因型男性ACMP患者易发生DEACMP。LRP1B基因位点(rs10183908)基因多态性与DEACMP无相关性。LRP1B基因多态性可能在DEACMP发病中具有性别发病的遗传易感性。

Association of CDH17 and LRP1B gene polymorphisms with delayed encephalopathy after carbon monoxide poisoning

Objective To investigate the association of CDH17 (cadherin-17) and LRP1B (low density lipoprotein receptor-related protein 1B) gene polymorphism with delayed encephalopathy after carbon monoxide poisoning.Methods The DEACMP patients were collected from June 2014 to June 2016.The patients were divided into DEACMP group and ACMP group.The CDH17 gene locus (rs2513796) and LRP1B locus (rs1541976,rs10183908) SNP typing were detected in two groups.Results LRP1B gene locus (rs1541976):the genotype distribution and allele frequency of the two groups were statistically significant (P<0.05).There was no significant difference in genotype distribution and allele frequency between the two groups (P>0.05).The genotype distribution and allele frequency of the two groups were statistically significant (P<0.05).The genotype distribution of male and female patients in DEACMP group was statistically significant (P<0.05),but there was no significant difference in allele frequency between the two groups (P>0.05).There was no significant difference in genotype distribution and allele frequency between male and female patients in ACMP group (P>0.05).LRP1B gene locus (rs10183908):there was no significant difference in genotype distribution and allele frequency between the two groups (P>0.05).There was no significant difference in genotype distribution and allele frequency between the two groups (P>0.05).There was no significant difference in genotype distribution and allele frequency between the two groups (P>0.05).There was no significant difference in the genotype distribution between male and female patients in DEACMP group (P>0.05).The difference was statistically significant (P<0.05).There was no significant difference in the genotype distribution and gene frequency between male and female patients in ACMP group (P>0.05).CDH17 gene locus (rs2513796):there was no significant difference in genotype distribution and allele frequency between the two groups (P>0.05).There was no significant difference in genotype distribution and allele frequency between the two groups (P>0.05).There was no significant difference in genotype distribution and allele frequency between the two groups (P>0.05).There was no significant difference in genotype distribution and allele frequency between male and female patients in DEACMP group (P>0.05).There was no significant difference in genotype distribution and allele frequency between male and female patients (P>0.05).Conclusion LRP1B gene locus (rs1541976) gene polymorphism is associated with DEACMP.The risk of DEACMP in male ACMP patients is increased,and the risk of A/C genotype is increased,and CAC genotype is prone to DEACMP.LRP1B gene locus (rs10183908) gene polymorphism was not associated with DEACMP.LRP1B gene polymorphism may have genetic susceptibility to sex in the pathogenesis of DEACMP.