广西壮族儿童原发性肾病综合征PLCE1基因多态性检测的意义

Significance of PLCE1 gene polymorphism detection in children with primary nephrotic syndrome in Guangxi Zhuang Autonomous Region

目的探讨PLCE1基因单核苷酸多态性(SNP)与广西壮族儿童原发性肾病综合征(PNS)的相关性。方法本研究为回顾性研究,采用病例对照研究选取2017年1月至2021年1月在右江民族医学院附属医院就诊的广西壮族儿童PNS 155例(PNS组),同期体检的广西壮族健康儿童100例(健康对照组),采用二代基因测序技术对PLCE1 SNP rs3765524、rs2274223进行基因分型,并分析其与PNS发病的相关性。相关性分析采用Logistic回归分析,组间比较采用χ^(2)检验或Fisher′s确切概率法。结果1.与健康对照组比较,PNS组患儿中PLCE1 rs3765524与广西壮族儿童PNS的发病风险关联,在共显性模型中TT基因型可能降低广西壮族儿童PNS发病风险(OR=0.435,95%CI:0.238~0.794,P=0.007);PLCE1 rs2274223位点基因型及等位基因分布频率差异均无统计学意义(均P>0.05)。2.PLCE1基因rs3765524、rs2274223两位点存在强连锁不平衡。3.PNS组与健康对照组中单倍体型AC、AT、GT分布频率差异均无统计学意义(均P>0.05)。结论PLCE1基因rs3765524位点的SNP可能与广西壮族儿童PNS发病风险关联,TT基因型可能为广西壮族儿童PNS的保护基因。

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.