儿童过敏性紫癜与内皮素-1基因关系的研究

发布时间：2018-06-21 05:18

本文选题：过敏性紫癜 + 内皮素-1　；参考：《暨南大学》2012年硕士论文

【摘要】：目的：探讨内皮素-1（endothelin-1，ET-1）基因rs5370与rs1630736位点多态性与过敏性紫癜（Henoch-Schonlein purpura，HSP）发病及病程进展的关系；以及HSP患儿血浆及尿液ET-1浓度与HSP发病、病程及ET-1基因多态性之间的关系，进一步探讨HSP的发病机制，为诊断、治疗及判断HSP预后提供可能的科学依据。方法：将37名过敏性紫癜患儿作为病例组，其中单纯HSP组18例，紫癜性肾炎（Henoch-Schonlein purpura nephritis，HSPN）组19例，设100名正常儿童为基因对照组，其中69名为血浆ET-1浓度的对照组，另设20名肺炎痊愈患儿为尿液ET-1浓度的对照组。运用聚合酶链式反应（polymerase chain reaction，PCR）及基因测序的方法检测患儿ET-1rs5370及rs1630736基因多态性情况；同时用放免法（radioimmumoassay，RIA）分别检测各组患儿血浆及尿液ET-1的浓度。结果：①在rs5370位点，病例组与对照组，单纯HSP组与对照组，HSPN组与对照组之间基因分型频率、等位基因频率分布差异无统计学意义（P＞0.05）。②在rs1630736位点，病例组与对照组，，单纯HSP组与对照组，HSPN组与对照组之间基因分型频率、等位基因频率分布差异无统计学意义（P＞0.05）。③两位点的结合基因型频率在病例组与对照组之间差异无统计学意义（P＞0.05）。④血浆ET-1浓度在病例组急性期与恢复期之间（t=2.64，P=0.012），病例组急性期与对照组之间（t=2.12，P=0.042）差异有统计学意义。⑤尿液ET-1浓度在病例组与对照组之间（t=3.52，P=0.001），HSPN组与对照组之间（t=3.16，P=0.006），病例组急性期与恢复期之间（t=2.41，P=0.026），差异均有统计学意义。⑥在rs5370位点，病例组GG基因型、GT基因型及TT基因型之间血浆ET-1浓度，差异无统计学意义（P＞0.05）；病例组GG基因型与GT基因型之间尿液ET-1浓度，差异无统计学意义（P＞0.05）。⑦在rs1630736位点，病例组CC基因型、CT基因型与TT基因型血浆及尿液ET-1浓度差异无统计学意义（P＞0.05）。结论：①未能证实ET-1基因rs5370位点及rs1630736位点多态性与过敏性紫癜发病及肾损害的相关性。②HSP患儿可通过同时检测患儿血浆及尿液中ET-1浓度，监测患儿病程进展。
[Abstract]:Objective: to investigate the relationship between the polymorphism of rs5370 and rs1630736 loci of endothelin-1 (et 1) gene and the pathogenesis and progression of Henoch-Schonlein purpura HSPs, and the relationship between plasma and urine ET-1 concentrations and HSPs pathogenesis, course of disease and polymorphism of ET-1 gene in children with HSP. To further explore the pathogenesis of HSP, provide possible scientific basis for diagnosis, treatment and prognosis of HSP. Methods: 37 children with Henoch-Schonlein purpura nephritisn (HSPNs) were divided into two groups: HSP group (n = 18) and Henoch-Schonlein purpura (HSPN) group (n = 19). Another 20 recovered children with pneumonia were served as the control group with urine ET-1 concentration. The polymorphisms of ET-1rs5370 and rs1630736 gene were detected by polymerase chain reaction (PCR) and gene sequencing, and the concentrations of ET-1 in plasma and urine were detected by radioimmunoassay. Results there was no significant difference in the genotyping frequency and allele frequency between rs5370 locus, case group and control group, and between HSPN group and control group (P > 0.05), and there was no significant difference between case group and control group in allele frequency distribution (P > 0.05). Genotyping frequency between HSPN group and control group was observed. There was no significant difference in allele frequency distribution between the two loci (P > 0.05). There was no significant difference in the frequency of binding genotypes between the case group and the control group (P > 0.05.4). Plasma ET-1 concentration in the acute and convalescent stage of the case group was higher than that in the control group. There was significant difference in urine ET-1 concentration between the acute phase and the control group. There was significant difference between the case group and the control group. There was statistical significance between the case group and the control group in the concentration of urinary ET-1. The concentration of ET-1 was 3.16 P0. 006 between the HSPN group and the control group, and the difference was statistically significant between the acute phase and the convalescence stage of the case group (P 0. 026). At the rs5370 site, There was no significant difference in plasma ET-1 concentration between GG genotype GT genotype and TT genotype (P > 0.05), but there was no significant difference in urine ET-1 concentration between GG genotype and GT genotype in case group (P > 0.05). There was no significant difference in plasma and urine ET-1 concentrations between CC / CT genotype and TT genotype (P > 0.05). Conclusion the relationship between the polymorphism of ET-1 rs5370 locus and rs1630736 locus and the pathogenesis and renal damage of Henoch-Schonlein purpura can be determined by simultaneously detecting the concentration of ET-1 in plasma and urine to monitor the progression of the disease.
【学位授予单位】：暨南大学
【学位级别】：硕士
【学位授予年份】：2012
【分类号】：R725.5

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