摘要
目的 探讨转录因子NF-E2相关因子2（NRF2）启动子-617C/A多态性与脓毒症的易感性、严重程度及预后的关系.方法 应用DNA直接测序法检测浙江温州地区174例汉族脓毒症患者和203例健康体检者的NRF2启动子-617位点多态性,分析NRF2-617C/A与脓毒症易感性、严重程度及预后的关系.结果 （1）脓毒症者NRF2-617位点突变率（CA＋ AA）明显高于健康体检者（59.2％比46.3％;P =0.012）.（2）一般脓毒症者和严重脓毒症者NRF2-617基因型（CA＋ AA）分布差异有统计学意义（47.5％比65.5％;P=0.033）,但脓毒症休克者与无休克者（61.8％比57.1％;P=0.221）、脓毒症死亡者与存活者间无明显差别（56.8％比66.7％;P=0.258）.（3）非条件logistic回归分析显示：NRF2-617位点C→A突变与脓毒症易感性（OR=1.584,95％ CI1.025～2.447,P=0.038）及发生严重脓毒症（OR=0.453,95％ CI0.233～0.878,P=0.019）有关.结论 NRF2-617位点C→A突变与脓毒症易感性及发生严重脓毒症相关,但与脓毒症是否发生休克及预后无关.
Objective To investigate the association between the single nucleotide polymorphisms （SNPs） in NF-E2-related factor 2-617 （NRF2-617） promoter region with the susceptibility to the risk of sepsis.Methods In this case-control association study,203 healthy controls and 174 patients with sepsis in Wenzhou Han population were enrolled and genotyped by DNA direct sequencing.Results （1） The （CA ＋ AA） genotype frequency was significantly higher in the sepsis group than in the control group（59.2% vs 46.3 %,P =0.012）.（2） Compared with the general sepsis group,higher （CA ＋ AA） genotype frequency was found in the severe sepsis group（47.5% vs 65.5%,P =0.033）.However,no significant difference was shown in the（CA ＋ AA）genotype frequency between the shock group and the non-shock group as well as between the death group and the non-death group （61.8% vs 57.1%,P =0.221 ; 56.8% vs 66.7%,P =0.258）.（3）The unconditional logistic regression analysis showed that the mutation of C to A at the gene promoter locus of Nrf2-617 was associated with the increased onset risk of sepsis （OR =1.584,95% CI 1.025-2.447,P =0.038） and the severity of sepsis （OR =0.453,95% CI 0.233-0.878,P =0.019）.Conclusion The mutation of C to A at the gene promoter locus of Nrf2-617 may increase the onset risk of sepsis and organ failure in sepsis patients,while not associated with the incidence of shock and the prognosis of sepsis.
出处
《中华内科杂志》
CAS
CSCD
北大核心
2014年第6期442-445,共4页
Chinese Journal of Internal Medicine
基金
浙江省科技厅公益性技术应用研究计划项目（2010C33014）
浙江省自然科学基金（Y2090927）
温州市科技计划项目（Y20080088）
温州市高层次人才创新技术重点资助项目
