| 摘要: |
| 目的探讨低氧诱导因子-1α（HIF-1α）基因多态性与一氧化碳（CO）中毒患者急性期中枢神经损伤的相关性。方法选择191例CO中毒患者，根据急性期头颅MRI结果（是否发生中枢神经脱髓鞘损伤）分为正常组105例与异常组86例。采用DNA直接测序HIF-1α基因中rs3783752、rs4899056、rs1957757、rs10873142等4个单核苷酸多态性位点。结果MRI异常组与正常组rs4899056基因型分布频率比较，差异有统计学意义（P＜0.05），其中异常组TT基因型分布频率较正常组低；两组患者rs10873142基因型分布频率比较，差异有统计学意义（P＜0.05），其中异常组CC基因型分布频率较正常组低。经连锁不平衡分析发现正常组单倍体基因型（rs3783752-rs4899056-rs1957757）高度连锁（D'＞0.9，r2＞0.8），而异常组未发现连锁不平衡。MRI异常组与正常组患者定义为单倍体基因型块（rs3783752-rs4899056-rs1957757-rs10873142）的分布频率比较，差异有统计学意义（P＜0.05）。其中CTTG单倍体基因型差异明显（P＜0.05），TCCA存在差异趋势（P=0.057）。结论HIF-1α基因多态性与CO中毒患者急性期中枢神经损伤具有相关性。 |
| 关键词: 一氧化碳中毒 低氧诱导因子 -1α 基因多态性 中枢神经损伤 |
| DOI：10.12056/j.issn.1006-2785.2017.39.12.2017-533 |
| 分类号: |
| 基金项目:温州市公益性科技计划项目（Y20150168） |
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| Association of HIF-1琢 gene polymorphism with central nervous injury in patients with acute carbon monoxide poisoning |
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the NO.118 Hospital of PLA
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| Abstract: |
| Objective To investigate the association between HIF-1α gene polymorphism and central nervous injury in
patients with acute carbon monoxide poisoning. Methods One hundred and ninety one patients with carbon monoxide poison-
ing in acute stage were enrolled in the study, including 86 cases with central nervous injury according to MRI examination. The single nucleotide polymorphisms of HIF-1α gene rs3783752, rs4899056, rs1957757 and rs10873142 loci were detected with DNA direct sequencing. Results The frequencies of TT genotype in rs4899056 and GG genotype of rs10873142 in MRI abnor- mal group were significantly lower than those in MRI normal group (both P＜0.05). The linkage disequilibrium analysis found that haploid type(rs3783752-rs4899056-rs1957757) in normal group had high linkage (D'＞0.9, r2＞0.8), while not in abnormal group. There were significant differences in haploid type (rs3783752-rs4899056-rs1957757-rs10873142) between patients with abnor- mal MRI and normal MRI (P＜0.05), the significant difference was found in CTTG haploid type (P＜0.05), while the difference trend
was found in TCCA haploid type (P=0.057). Conclusion HIF-1α gene polymorphism is related to central nerve damage in pa- tients with carbon monoxide poisoning. |
| Key words: Carbon monoxide poisoning Hypoxia inducible factor-1α Gene polymorphism Central nerve injury |
