EPCR基因多态性与脓毒症的相关性研究

发布时间：2018-01-17 16:37

本文关键词：EPCR基因多态性与脓毒症的相关性研究　出处：《右江民族医学院》2017年硕士论文　论文类型：学位论文

【摘要】：目的:探讨内皮细胞蛋白C受体(Endothelial protein C receptor,EPCR)基因rs2069948C/T、rs867186A/G位点多态性与脓毒症发生、发展的相关性,及其与脓毒症患者血浆可溶性内皮细胞蛋白C受体(Soluble endothelial protein C receptor,s EPCR)水平和病情严重程度的关系,以期筛选脓毒症患者中EPCR基因的风险基因型及等位基因,为脓毒症早期诊断和预后判定提供新思路。方法:通过DNA测序和单碱基延伸PCR技术检测113例广西健康体检人群和64例脓毒症患者EPCR基因rs2069948C/T(2532C/T)、rs867186A/G(6936A/G)共2个单核苷酸多态性(Single nucleotide polymorphisms,SNPs)位点的多态性分布情况,以明确EPCR基因SNPs位点基因型及等位基因在正常体检人群和脓毒症患者中的分布差异;采用酶联免疫吸附法(Enzyme-linked immunosorbent assay,ELISA)检测全部受试对象血浆s EPCR的浓度,以探讨EPCR基因与血浆s EPCR水平以及脓毒症的相关性。结果:本研究脓毒症组和对照组全部受试对象的性别和年龄构成均无显著性差异(P0.05)。广西健康体检人群EPCR rs2069948 C/T位点基因型及等位基因分布频率与欧洲人、日本人、非洲人相比,存在差异(P0.05),而与中国北京人相比,差异无显著性(P0.05);rs867186 A/G位点的基因型及等位基因分布频率与中国北京人相比,存在差异(P0.05),而与日本人、非洲人、欧洲人相比,差异无显著性(P0.05)。脓毒症组EPCR基因rs2069948C/T、rs867186A/G的等位基因分布频率在男女组间存在差异(P0.05)。携带rs2069948 CT基因型、T等位基因的女性及携带rs867186 A等位基因的男性患脓毒症风险较高(OR=2.740,95%CI:1.065~7.050,P=0.034;OR=2.790,95%CI:1.358~5.730,P=0.005;OR=1.735,95%CI:1.063~2.833,P=0.027)。脓毒症的病情严重程度与EPCR rs2069948C/T、rs867186A/G位点基因多态性无关(P0.05)。脓毒症组s EPCR血浆蛋白水平较对照组升高,但尚未达统计学意义(P0.05),与EPCR基因多态性无关。结论:广西健康人群EPCR基因多态性的分布频率与不同地区种族人群存在差异;EPCR基因多态性可能与脓毒症易感性相关,并呈性别相关性,携带rs2069948C/T基因型、T等位基因的女性和rs867186 A等位基因的男性患脓毒症风险较高,但与脓毒症患者血浆s EPCR水平无关。
[Abstract]:Objective: to investigate the rs2069948C/T of Endothelial protein C receptor (ECR) gene. The association between rs867186A/G locus polymorphism and the occurrence and development of sepsis. And its relationship with plasma soluble endothelial protein C receptor in patients with sepsis. In order to screen the risk genotype and allele of EPCR gene in patients with sepsis, the relationship between the level of s EPCR and the severity of the disease was studied. Methods: to provide a new idea for the early diagnosis and prognosis of sepsis. EPCR gene rs2069948C / T- (rs2069948C / T) was detected by DNA sequencing and single base extension PCR technique in 113 healthy controls and 64 sepsis patients in Guangxi. 2532C / T). Rs867186A / Gn6936A / G) had two single nucleotide polymorphisms polymorphisms. To determine the distribution of EPCR gene SNPs locus genotypes and alleles in healthy people and sepsis patients. Enzyme linked immunosorbent assay (Elisa) was used to detect the plasma s EPCR concentration in all subjects. To investigate the correlation between EPCR gene and plasma s EPCR level and sepsis. Results: there was no significant difference in sex and age composition between all subjects in sepsis group and control group. EPCR rs2069948 C / T locus genotype and allele distribution frequency in Guangxi healthy population were compared with those in European population. There is a difference between Japanese and African, but there is no significant difference between Chinese and Beijing people. The genotypic and allelic frequencies of the rs867186 A / G locus were different from those of the Beijing people in China (P 0.05), but compared with those of the Japanese, the Africans and the Europeans. There was no significant difference (P 0.05). EPCR gene rs2069948C/T was found in sepsis group. The frequency of allelic distribution of rs867186A/G was different between male and female groups (P 0.05). Rs2069948 CT genotypes were carried. Women with T allele and men with rs867186 A allele were at higher risk of sepsis. P0. 034; The order is 2.790 and 95CI: 1.3585.730m P0. 005; The severity of sepsis and the severity of sepsis and EPCR rs2069948C/T were 1.735 and 95CI: 1.063 and 2.833 respectively. The plasma protein level of s EPCR in sepsis group was higher than that in control group, but it had not reached statistical significance (P 0.05). Conclusion: the distribution frequency of EPCR gene polymorphism in healthy population in Guangxi is different from that of ethnic groups in different regions. The polymorphism of EPCR gene may be related to the susceptibility to sepsis, and it is gender related, carrying rs2069948C/T genotype. Women with T allele and men with rs867186 A allele had a higher risk of sepsis, but had no relationship with plasma s EPCR level in septic patients.
【学位授予单位】：右江民族医学院
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R459.7

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