Significance of PLCE1 gene polymorphism detection in children with primary nephrotic syndrome in Guangxi Zhuang Autonomous Region / 中华实用儿科临床杂志

Objective:To investigate the correlation between the single nucleotide polymorphism (SNP) of the PLCE1 gene and children with primary nephrotic syndrome (PNS) in Guangxi Zhuang Autonomous Region. Methods:This study was a retrospective study, a case-control study was used to select 155 cases of PNS in Guangxi Zhuang children attending the Affiliated Hospital of Youjiang Medical University for Nationalities from January 2017 to January 2021 (PNS group), and 100 healthy Guangxi Zhuang children who were physically examined during the same period (healthy control group). Genotyping of PLCE1 SNP rs3765524, and rs2274223 were performed using the second-generation gene sequencing technology, and their correlation with the development of PNS was analyzed. Logistic regression analysis was used for correlation analysis, and Chi- square test or Fisher′ s exact probability method was used for comparison between groups. Results:(1)Compared with the healthy control group, PLCE1 rs3765524 was correlated with the risk of PNS in children of PNS group, and the TT genotype may reduce the risk of PNS in the co-dominant model ( OR=0.435, 95% CI: 0.238-0.794, P=0.007). There were no significant differences in the genotype of PLCE1 rs2274223 and the frequency of allele distribution between PNS group and healthy control group (all P>0.05). (2) A strong linkage disequilibrium existed at PLCE1 SNP rs3765524 and rs2274223.(3) There were no significant differences in the frequency of the distribution of haplotypes AC, AT and GT between PNS group and healthy control group (all P>0.05). Conclusions:PLCE1 SNP rs3765524 is correlated with the risk of PNS in children in Guangxi Zhuang Autonomous Region, and the TT genotype may be a protective factor for PNS in children in Guangxi Zhuang Autonomous Region.

Progress in the mechanism of phospholipase CE1 in children with primary nephrotic syndrome / 中华实用儿科临床杂志

Phospholipase CE1 (PLCE1) is a special phospholipase C isoenzyme in the phospholipase family.It is expressed in podocytes of mature glomeruli and participates in cell signal transduction through a variety of pathways, thereby promoting its growth and expression.It has been reported that the single gene mutation of PLCE1, the heterozygosis mutation with other pathogenic genes and the interaction between PLCE1 and other factors are likely to cause primary nephrotic syndrome (PNS) in children.There have been children with PLCE1 mutation-induced steroid-resistant nephrotic syndrome cured after taking calmodulin inhibitors.They bring hope to treat PNS.In this article, the expression of PLCE1, its biological function, the mechanism of PLCE1 leading to PNS in children and its treatment were reviewed.

Study of mutation of phospholipase CE1 gene in children with primary nephrotic syndrome of Zhuang nationa-lity / 中华实用儿科临床杂志

Objective:To analyze the mutation sites and characteristics of phospholipase CE1( PLCE1) gene in children with primary nephrotic syndrome(PNS) in Zhuang, Guangxi, China, so as to explore the expression status of PLCE1 protein in peripheral blood of PNS patients. Methods:(1)Blood samples of 154 Zhuang children with PNS and 98 healthy children of Zhuang nationality from July 2015 to September 2017 in Affiliated Hospital of Youjiang Medical College for Nationalities were collected to sequence PLCE1 gene with FastTarget target gene capture method in the combination with next generation sequencing.Based on the comparison between mutation results and information from the database, the pathogenicity, phenotype and distribution characteristics of these mutation sites were discovered and appraised.(2)The concentration of PLCE1 protein in serum samples were measured by enzyme-linked immuno sorbent assay, then the data of PNS group and healthy control group were compared and analyzed statistically with SPSS 25.0. Results:(1)A total of 18 low-frequency mutations of PLCE1 were observed, 5 of them(c.670C>T, c.578T>C, c.923G>T, c.4916C>T, and c. 5927_5929del) were found only in the PNS group, and 3 of them occurred in both PNS group and healthy control group: c.176C>T, c.389T>C, and c. 4304C>T.Five newly discovered mutations (c.923G>T, c.958T>A, c.1151C>T, c.2341A>G, and c. 3592G>C)were discovered and only c. 923 G>T is pathogenic mutation of PLCE1.(2)The concentration of PLCE1 protein in healthy control group was 414.65 (231.20, 729.81) ng/L and the level of PLCE1 in PNS group was 237.84 (116.14, 535.85) ng/L, ( Z=-3.212, P<0.001), and the value of PNS group was lower than that in the healthy control group. Conclusions:(1)As a new pathogenic mutation of PLCE1, c.923G>T was found.(2)The phenotype of PLCE1 gene mutation in Zhuang children with PNS was diverse, and they may differ by race and region.(3) PLCE1 protein of serum may act as a protective protein to guarantee various life activities of cells by participating in multiple signal transduction pathways.

Study of peptides antigen of the dendritic cell from human cord blood on specific cytotoxic T iymphocytes / 中国基层医药

Using pH 3.3 Citrate-phosphate buffer(0.13)mcitric acid/0.066 M Na_2 HPO_4)elution tech- nique,peptides antigen were extracted on the surfacd of QGY-7703 cell.With the peptides antigen(50?g/ml)den- dritic cells were processing ang presenting.The dendritic cells were from human cord blood stem cells induced by granulocyte-macrophage colony stimulating factor(100ng/ml).Tumor necrosis factor(1000U/ml)and interlukin-4 (50ng/ml).The processed peptides antigen were able to activate the peripheral blood T iymphocytes and changed them into specific cytotoxic T iymphocytes could recognize the QGY-7703 antigen peptides by the T cell receptor and then killed the target cell-QGY-7703 cell.The test were shown:at effective cell:target cell(E:T)over 50:1,a- long with growth of E:T ratio,target cell special lysis percentage obviously growing.The most cytotoxicity(%) could reach 61.65 at the condition of E:T=200:1.In the study we also have known that the test to QGY-7703, SPC-A-1,HL60 as well as K562 cell lysis were indicated this killed activation is of specialty.The cause of target cell death is induced by programmed call death(PCD)or apoptosis way.In the processing of the test using dendritic cell dealing with special tumor peptides antigen the total cytotoxcity growed highest,reaching 34.14.The result furtherly demonstrated,dendritic cell originating fron CD_(34)~+ umbilical hemopoietic stem cell could process ang present peptides antigen effectively as antigen present cell(APC)and activated the cytotoxic T iymphocytes(CTL).

Relationship Between Interleukin-6 Gene Promoter Polymorphisms and Plasma Lipid, Platelet Count / 中国医师杂志

Objective To study the distribution of IL-6 gene promoter 572C/G, 634C/G polymorphisms in Han population of Guangxi province, and analyze the relation between IL-6 gene polymorphisms and plasma lipid, platelet count. Methods Polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) was used to detect IL-6 genotype in 198 healthy Han adults. At the same time the plasma lipid level and platelet count were determined by routine methods. Results Serum lipid levels had not significant difference among the different genotypes of IL-6 (P