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.

PLCE1 Promotes the Invasion and Migration of Esophageal Cancer Cells by Up-Regulating the PKCα/NF-κB Pathway

PURPOSE: To investigate the effect and mechanism of phospholipase C epsilon gene 1 (PLCE1) expression on esophageal cancer cell lines. MATERIALS AND METHODS: The esophageal carcinoma cell lines Eca109 and EC9706 and normal esophageal epithelial cell line HEEC were cultured. The expression of PLCE1, protein kinase C alpha (PKCα), and nuclear factor kappa B (NF-κB) p50/p65 homodimer in cells were comparatively analyzed. The esophageal cancer cells were divided into si-PLCE1, control siRNA (scramble), and mock groups that were transfected with specific siRNA for PLCE1, control siRNA, and blank controls, respectively. Expression of PLCE1, PKCα, p50, and p65 was detected by Western blotting. Transwell assay was used to detect migration and invasion of Eca109 and EC9706 cells. RESULTS: Compared with HEEC, the expression of PLCE1, PKCα, p50, and p65 was increased in Eca109 and EC9706 cells. The expression of PLCE1 was positively correlated with the expression of PKCα and p50 (PKCα: r=0.6328, p=0.032; p50: r=0.6754, p=0.041). PKCα expression had a positive correlation with the expression of p50 and p65 (p50: r=0.9127, p=0.000; p65: r=0.9256, p=0.000). Down-regulation of PLCE1 significantly decreased the expression of PKCα and NF-κB-related proteins (p65: p=0.002, p=0.004; p50: p=0.005, p=0.009) and inhibited the migration and invasion of Eca109 and EC9706 cells. CONCLUSION: PLCE1 activated NF-κB signaling by up-regulating PKCα, which could promote invasion and migration of esophageal cancer cells.

Expression of PLCE1 in esophageal squamous cell carcinoma tissues and survival analysis / 新乡医学院学报

Objective To investigate PLCE1 protein expression in esophageal squamous cell carcinoma (ESCC)tissues,and understand the effect of PLCE1 protein expression on the prognosis of patients with ESCC.Methods The PLCE1 protein were detected in 85 patients with surgically resected ESCC paraffin-embedded tissue using immunohistochemical staining,the patients' information were selected from March 1997 to December 2011 in the database of the Henan Key Laboratory for Esophageal Cancer Research,and the survival analysis were operated with Kaplan Meier single factor and Cox multivariate regression.Results In the 85 cases,the lost to follow-up were 5 cases,the follow-up rate was 94.1％ (80/85).In the 80 cases with ESCC,the positive expression rate of PLCE1 was 77.5％ (62/80).PLCE1 positive expression was not significantly associated with differentiation,infiltration depth,lymph node metastasis and family history with ESCC (P ＞ 0.05).The univariate survival analysis by Kaplan-Meier showed that protein expression of PLCE1 had no significant association with overall survival (P ＞ 0.05).Cox regression survival analysis showed that the lymph node metastasis was associated with the survival time of ESCC patients [the relative risk were 1.763,95％ CI(1.008,3.084),P =0.047].Conclusion The expression of PLCE1 protein was involved in mechanism of ESCC,and might not predicted the prognosis of the patients with ESCC.

Mutational analysis of WT1 and PLCE1 in three Chinese families with steroid-resistant nephrotic syndrome / 中华肾脏病杂志

Objective To examine mutations in the WT1 and PLCE1 gene in three Chinese families with autosomal recessive steroid-resistant nephrotic syndrome (SRNS) once mutations in NPHS2 had been excluded. Methods Peripheral blood samples were collected for genetic analysis from three probands of three Chinese families and their parents, and two probands' siblings, and 50 adult volunteers with normal urinalysis. Genomic DNA was isolated from peripheral blood leucocytes. Ten exons and exon-intron boundaries of WT1, and 31 exons and exon-intron boundaries of PLCE1 were amplified by polymerase chain reaction (PCR). Mutational analysis was performed by DNA sequencing directly and RFLP (restriction fragment length polymorphism) and/or PCR. Results No mutation in both WT1 and PLCE1 was identified in three probands from three Chinese families with autosomal recessive SRNS. However, three variants of WT1, 126C>T, ⅣS5-64A>G and 903A>G, and 13 variants of PLCE1, -134A>G, 810T>C, 960G>A, ⅣS11-28C>G, ⅣS15+26A>C, 4724G>C, ⅣS20+40C>T, ⅣS21+64G>A, ⅣS22-26T> A, 5320C>T, 5780A>G, ⅣS27+24A>G and ⅣS31 +48_49insT, were detected in three probands and some controls, indicating that all these variants were gene polymorphisms. WT1 polymorphism ⅣS5-64A>G, and PLCE1 polymorphism ⅣS22-26T>A were novel. Conclusion All the encoding exons and exon-intron boundaries of both WT1 and PLCE1 in three probands are examined, and no causative mutations in WT1 and PLCE1 axe found, suggesting that mutation in WT1 and PLCE1 genes is not a major cause of the Chinese families with autosomal recessive SRNS.