| BackgroundSome patients after a certain intermittment period following recovery from acute carbon monoxide poisoning(ACMP), damage to central nervous system based neuropsychiatric symptoms develop rapidly once again, will be called delayed encephalopathy after acute carbon monoxide poisoning (DEACMP). On the part of the gene by screening with DEACMP GWAS association studies, combined in accordance with the previous study results of DEACMP cerebrospinal fluid and blood of biochemical level in patients at home and abroad, with a comprehensive analysis, suggesting that the cause of DEACMP was not only the hit from acute carbon monoxide poisoning, but also related on individuals with genetic variations. Look forward that through retrospective cohort study of genes associated with DEACMP could improve its pathogenesis, and further provide clinical guidance for disease prevention and treatment.ObjectivesTo investigate the association of metabotropic glutamate receptor8(mGluR8or GRM8) and Cadherin-17(CDH17) gene polymorphisms (rs1204515and rs2513796) with delayed encephalopathy after acute carbon monoxide poisoning, and to explore the influences of DEACMP genetic predisposition.Methods1. The study subjects were selected from the Han population in northern regions of Henan Province. For rs1204515, the group of DEACMP were included335cases (male200cases, female135cases), the group of ACMP were included330cases (male189cases, female141cases); For rs2513796, the group of DEACMP were consisted of231cases (male132cases, female99cases), the group of ACMP were consisted of422cases (male211cases, female211cases). All cases were aged40or over. DEACMP cases are in line with DEACMP diagnostic criteria " Internal Medicine (6th Edition)" and Zhao Xiangzhi’s. ACMP cases were in line with the "national occupational acute carbon monoxide poisoning standard GBZ23-2002" diagnostic criteria.2. The blood samples (3ml fasting cubital vien) in DEACMP cases were collected in the morning6-8AM, with EDTA anticoagulant tubes. According to the same standards collection, Id after fully recover from unconscious with the successful rescue, the blood samples in ACMP cases were collected. All the collecting specimens were stored at more than-70℃. The DNA in all blood samples were extracted with DNA extraction kit (Centrifugal columnar), made in TIANGEN BIOTECH Company.3. The selected gene loci, mGluR8(rs1204515) and CDH17(rs2513796), were in a higher risk in GWAS results. The method of PCR-RFLP (PCR-restriction fragment length polymorphism) technique was to detect the genotype of rs1204515. The rs2513796was commissioned Bo Miao Technology (Beijing) Co, Ltd. to obtain the gene SNP genotyping.4. Apply SPSS17.0for statistical analysis of data obtained, according to the goodness-of-fit chi-square tests to analysis the genotype distribution in accordance with the Hardy-Weinderg equilibrium; and%test was used for association analysis.Results1. For rs1204515in mGluR8gene:there was no significant difference in the genotype distributions of both DEACMP group and ACMP group (P=0.675), neither was the allele frequency distribution (P=0.772). After stratification by gender, there was no significant difference in the general genotype distribution in both female groups (P=0.390), neither was the allele frequency distribution (P=0.185); there was no significant difference in the general genotype distribution in both male groups (P=0.268), neither was the allele frequency distribution (P=0.143). In ACMP, the genotype distribution in both male and female group was not significantly different (P=0.725), neither was the allele frequency distribution (P=0.686); The genotype distribution in both male and females in DEACMP group was not significantly different (P=0.433), in contrast to significantly different in the allele frequency distribution (P=0.048).2. For rs2513796in CDH17gene:there was no significant difference in the genotype distributions of both DEACMP group and ACMP group (P=0.267), neither was the allele frequency distribution (P=0.196). After stratification by gender, there was no significant difference in the general genotype distribution in both female groups (P=0.352), neither was the allele frequency distribution (P=0.316); there was no significant difference in the general genotype distribution in both male groups (P=0.686), neither was the allele frequency distribution (P=0.442). In ACMP, the genotype distribution in both male and female group was not significantly different (.P=0.734), neither was the allele frequency distribution (P=0.502); the genotype distribution in both male and females in DEACMP group was not significantly different (P=0.874), nerther was the allele frequency distribution (P=0.048).Conclusions1. In the mGluR8rs1204515gene, the female ACMP patients, especially the one with T allele, might have increased risk of DEACMP. It suggested that in rs1204515, allele T gene might be female-subject molecular genetic susceptibility.2. There is no association between CDH17rs2513796polymorphism and DEACMP, the thought of CDH17rs2513796to be DEACMP susceptibility gene was not supported. |
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