本文關(guān)鍵詞：EPCR基因多態(tài)性與膿毒癥的相關(guān)性研究　出處：《右江民族醫(yī)學(xué)院》2017年碩士論文　論文類型：學(xué)位論文

  更多相關(guān)文章： 內(nèi)皮細(xì)胞蛋白C受體 基因多態(tài)性 膿毒癥 種族

【摘要】：目的:探討內(nèi)皮細(xì)胞蛋白C受體(Endothelial protein C receptor,EPCR)基因rs2069948C/T、rs867186A/G位點(diǎn)多態(tài)性與膿毒癥發(fā)生、發(fā)展的相關(guān)性,及其與膿毒癥患者血漿可溶性內(nèi)皮細(xì)胞蛋白C受體(Soluble endothelial protein C receptor,s EPCR)水平和病情嚴(yán)重程度的關(guān)系,以期篩選膿毒癥患者中EPCR基因的風(fēng)險(xiǎn)基因型及等位基因,為膿毒癥早期診斷和預(yù)后判定提供新思路。方法:通過(guò)DNA測(cè)序和單堿基延伸PCR技術(shù)檢測(cè)113例廣西健康體檢人群和64例膿毒癥患者EPCR基因rs2069948C/T(2532C/T)、rs867186A/G(6936A/G)共2個(gè)單核苷酸多態(tài)性(Single nucleotide polymorphisms,SNPs)位點(diǎn)的多態(tài)性分布情況,以明確EPCR基因SNPs位點(diǎn)基因型及等位基因在正常體檢人群和膿毒癥患者中的分布差異;采用酶聯(lián)免疫吸附法(Enzyme-linked immunosorbent assay,ELISA)檢測(cè)全部受試對(duì)象血漿s EPCR的濃度,以探討EPCR基因與血漿s EPCR水平以及膿毒癥的相關(guān)性。結(jié)果:本研究膿毒癥組和對(duì)照組全部受試對(duì)象的性別和年齡構(gòu)成均無(wú)顯著性差異(P0.05)。廣西健康體檢人群EPCR rs2069948 C/T位點(diǎn)基因型及等位基因分布頻率與歐洲人、日本人、非洲人相比,存在差異(P0.05),而與中國(guó)北京人相比,差異無(wú)顯著性(P0.05);rs867186 A/G位點(diǎn)的基因型及等位基因分布頻率與中國(guó)北京人相比,存在差異(P0.05),而與日本人、非洲人、歐洲人相比,差異無(wú)顯著性(P0.05)。膿毒癥組EPCR基因rs2069948C/T、rs867186A/G的等位基因分布頻率在男女組間存在差異(P0.05)。攜帶rs2069948 CT基因型、T等位基因的女性及攜帶rs867186 A等位基因的男性患膿毒癥風(fēng)險(xiǎn)較高(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)。膿毒癥的病情嚴(yán)重程度與EPCR rs2069948C/T、rs867186A/G位點(diǎn)基因多態(tài)性無(wú)關(guān)(P0.05)。膿毒癥組s EPCR血漿蛋白水平較對(duì)照組升高,但尚未達(dá)統(tǒng)計(jì)學(xué)意義(P0.05),與EPCR基因多態(tài)性無(wú)關(guān)。結(jié)論:廣西健康人群EPCR基因多態(tài)性的分布頻率與不同地區(qū)種族人群存在差異;EPCR基因多態(tài)性可能與膿毒癥易感性相關(guān),并呈性別相關(guān)性,攜帶rs2069948C/T基因型、T等位基因的女性和rs867186 A等位基因的男性患膿毒癥風(fēng)險(xiǎn)較高,但與膿毒癥患者血漿s EPCR水平無(wú)關(guān)。
[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.
【學(xué)位授予單位】：右江民族醫(yī)學(xué)院
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2017
【分類號(hào)】：R459.7

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