Department of Neurology, the Second Affiliated Hospital of Xinxiang Medical University, Xinxiang, China ; Henan Key Lab of Biological Psychiatry, Xinxiang Medical University, Xinxiang, China.
PLoS One. 2013 Nov 12;8(11):e79159. doi: 10.1371/journal.pone.0079159. eCollection 2013.
Delayed encephalopathy after acute carbon monoxide poisoning (DEACMP) is more characteristic of anoxic encephalopathy than of other types of anoxia. Those who have the same poisoning degree and are of similar age and gender have a greater risk of getting DEACMP. This has made it clear that there are obvious personal differences. Genetic factors may play a very important role. The authors performed a genome-wide association study involving pooling of DNA obtained from 175 patients and 244 matched acute carbon monoxide poisoning without delayed encephalopathy controls. The Illumina HumanHap 660 Chip array was used for DNA pools. Allele frequencies of all SNPs were compared between delayed encephalopathy after acute carbon monoxide poisoning and control groups and ranked. A total of 123 SNPs gave an OR >1.4. Of these, 46 mapped in or close to known genes. Forty-eight SNPs located in 19 genes were associated with DEACMP after correction for 5% FDR in the genome-wide association of pooled DNA. Two SNPs (rs11845632 and rs2196447) locate in the Neurexin 3 gene were selected for individual genotyping in all samples and another cohort consisted of 234 and 271 controls. There were significant differences in the genotype and allele frequencies of rs11845632 and rs2196447 between the DEACMP group and controls group (all P-values <0.05). This study describes a positive association between Neurexin 3 and controls in the Han Chinese population, and provides genetic evidence to support the susceptibility of DEACMP, which may be the resulting interaction of environmental and genetic factors.
急性一氧化碳中毒迟发性脑病（DEACMP）比其他类型缺氧性脑病更具特征性。那些具有相同中毒程度、年龄和性别相似的人患 DEACMP 的风险更大。这清楚地表明存在明显的个体差异。遗传因素可能起着非常重要的作用。作者进行了一项全基因组关联研究，该研究涉及从 175 名患者和 244 名急性一氧化碳中毒无迟发性脑病对照者中提取的 DNA 池。使用 Illumina HumanHap 660 芯片阵列对 DNA 池进行基因分型。将迟发性脑病后急性一氧化碳中毒组和对照组之间的所有 SNP 的等位基因频率进行比较并排序。共有 123 个 SNP 的 OR>1.4。其中，46 个 SNP 映射到或靠近已知基因。在全基因组关联分析中，对 pooled DNA 进行 5% FDR 校正后，与 DEACMP 相关的 48 个 SNP 位于 19 个基因中。两个 SNP(rs11845632 和 rs2196447)位于神经连接蛋白 3 基因中，在所有样本和另一个由 234 名和 271 名对照者组成的队列中进行了个体基因分型。在 DEACMP 组和对照组之间，rs11845632 和 rs2196447 的基因型和等位基因频率存在显著差异（所有 P 值均<0.05）。本研究描述了汉族人群中 Neurexin 3 与对照组之间的正相关，并提供了遗传证据，支持 DEACMP 的易感性，这可能是环境和遗传因素相互作用的结果。
