TET2基因单核苷酸多态性与脓毒症易感性和预后的相关性研究  

Correlation between single nucleotide polymorphism of TET2 gene and susceptibility and prognosis of sepsis

作　　者：张艳[1] 吴晓梁[1] 侯金超[1] 程宝莉[1] 陈齐兴[2] 方向明[1] Zhang Yan;Wu Xiaoliang;Hou Jinchao;Cheng Baoli;Chen Qixing;Fang Xiangming(Department of Anesthesiology,The First Affiliated Hospital,Zhejiang University School of Medicine,Hangzhou 310003,China;Clinical Research Center,The Children’s Hospital,Zhejiang University School of Medicine,Hangzhou 310052,China)

机构地区：[1]浙江大学医学院附属第一医院,310003 [2]浙江大学医学院附属儿童医院,310052

出　　处：《中华急诊医学杂志》2019年第10期1261-1265,共5页Chinese Journal of Emergency Medicine

基　　金：国家自然科学基金(81720108025).

摘　　要：目的探讨DNA羟甲基化酶TET2(ten-eleven translocation 2)基因多态性与脓毒症易感性及其预后的相关性。方法采用病例-对照关联研究方法,将99例脓毒症患者和107例对照者纳入本研究中,其中,脓毒症患者按照住院28 d转归不同分为存活组(56例)和死亡组(43例),对照组为外科大手术后未发生脓毒症的患者。根据现有的遗传关联和流行病学研究报道以及NCBI网站SNP database数据库筛选具有较高最小等位基因频率的遗传变异,与TET2基因功能密切相关的5个单核苷酸多态性(single nucleotide polymorphism, SNP)位点rs6839705、rs7670522、rs7679673、rs7698522和rs10010325作为研究对象,通过TaqMan探针法实时荧光定量PCR技术检测5个SNPs位点在两组中的基因型和等位基因,用遗传分析法计算其分布频率,采用χ^2检验和Fisher精确概率法分析TET2基因5个位点多态性与脓毒症的易感性和预后的相关性。结果TET2基因5个SNPs位点基因型的分布频率在脓毒症组与对照组之间、脓毒症患者中存活组与死亡组之间差异均无统计学意义(P> 0.05);5个位点等位基因分布频率在脓毒症组与对照组之间、脓毒症患者中存活组与死亡组之间差异亦无统计学意义(P> 0.05)。结论本研究结果显示,TET2基因5个SNPs位点的多态性与脓毒症的易感性和预后均无显著相关性,结果尚需更大样本实验数据进一步证实。Objective To investigate the association of SNPs in TET2 gene with the susceptibility and prognosis of sepsis. Methods Ninety-nine patients diagnosed with sepsis and 107 controls were enrolled in the study. The septic patients were further divided into survivors (56 cases) and non-survivors (43 cases) according to the outcome of 28-day hospitalization. Patients without sepsis after major surgery were enrolled as the controls. The genotypes of the five loci (rs6839705, rs7670522, rs7679673, rs7698522 and rs10010325) with high minor allele frequency in the TET2 were screened according to the existing research reports and the SNP database of the NCBI website. The five loci were detected by TaqMan probe based allelic discrimination assays using real-time polymerase chain reaction (PCR). The data were calculated for genetic association study through χ^2 test and Fisher’s exact probability method. Results There was no significant difference in genotype frequencies of the five tested SNPs in TET2 gene between septic patients and controls or between survivors and non-survivors in septic patients (P > 0.05). Furthermore, the allelic frequencies of the five SNPs between septic patients and controls or between survivors and non-survivors in septic patients also had no significant difference (P > 0.05). Conclusions This study showed that the five SNPs in TET2 gene (rs6839705, rs7670522, rs7679673, rs7698522, and rs10010325) were not associated with the susceptibility and prognosis of sepsis, which needs to be further confirmed by large-sample studies.

关 键 词：脓毒症 DNA羟甲基化酶TET2 单核苷酸多态性 基因型 等位基因 病例对照研究 

分 类 号：R45[医药卫生—治疗学]