PLCε1蛋白及Arg548Leu位点与广西壮族儿童原发性肾病综合征关系的分析

Analysis of the relationship between PLCε1 protein and Arg548Leu locus in Zhuang nationality children with primary nephrotic syndrome in Guangxi

目的分析磷脂酶CE1(phospholipase CE1,PLCE1)基因Arg548Leu位点及磷脂酶Cε1(Phospholipase Cε1,PLCε1)蛋白与原发性肾病综合征(primary nephrotic syndrome,PNS)易感性及对激素治疗反应。方法选取广西壮族儿童255例,其中PNS组155例,健康对照组100例,PNS组分为激素敏感型肾病综合征(steroid sentitive nephrotic syndrome,SSNS)95例、激素耐药型肾病综合征耐(steroid resistant nephrotic syndrome,SRNS)60例。运用QPCR及FastTarget联合二代测序技术检测PLCE1基因Arg548Leu位点多态性,同时采用酶联免疫吸附法检测血清中PLCε1蛋白的水平,分析Arg548Leu位点的基因型及等位基因分布频率及PLCε1蛋白水平在各组间的分布差异,探讨其与PNS的关系。结果①PLCE1基因Arg548Leu位点基因型(GG、GT、TT)及等位基因型(G、T)在PNS组与健康对照组间频率分布差异无统计学意义(P>0.05);SSNS与SRNS两组间基因型(GG、GT)和等位基因型(G、T)频率分布差异无统计学意义(P>0.05)。②PNS组血清中PLCε1蛋白水平低于健康对照组,差异具有统计学意义(P<0.001);SRNS组中PLCε1蛋白水平也低于SSNS组,差异具有统计学意义(P<0.05)。结论①PLCE1基因Arg548Leu位点多态性可能与广西壮族儿童PNS易感性及激素治疗反应无关;②在PNS中PLCε1蛋白可能是广西壮族儿童一种保护性蛋白,其血清水平可能影响对激素的治疗反应。

Objective To analyze the susceptibility of the Arg548Leu locus of the Phospholipase Cepsilon-1(PLCE1)gene and PhospholipaseCε1(PLCε1)protein in primary nephrotic syndrome(PNS)and its response to hormone therapy.Methods A total of 255 Zhuang nationality children in Guangxi were selected,with 155 cases as PNS group and 100 cases as healthy control group.The PNS group was divided into 95 cases of steroid sensitive nephrotic syndrome(SSNS)and 60 cases of steroid resistant nephrotic syndrome(SRNS).The polymorphism of PLCE1 gene Arg548Leu locus was detected by QPCR and FastTarget combined with second-generation sequencing technology.Meanwhile,the serum levels of PLCε1 protein were detected by enzyme-linked immunosorbent assay.The frequency distribution of genotypes and allele in Arg548Leu locus and the distribution differences of the PLCε1 protein levels among the groups were analyzed to explore their relationship with PNS.Results①There was no significant difference in the frequency distribution of PLCE1 gene Arg548Leu locus genotypes(GG,GT,TT)and allele types(G,T)between PNS group and healthy control group(P>0.05);There was no significant difference in the frequency distribution of genotypes(GG,GT)and allele types(G,T)between SSNS group and SRNS group(P>0.05);②Serum levels of PLCε1 protein in the PNS group was lower than in the healthy control group,and the difference was statistically significant(P<0.001);The protein levels of PLCε1 in the SRNS group was also significantly lower than those in the SSNS group(P<0.05).Conclusion①The polymorphism of Arg548Leu locus in PLCE1 gene may not be associated with susceptibility to PNS and hormone treatment response in children of Zhuang nationality in Guangxi;②The PLCε1 protein may be a protective protein for children of Zhuang nationality in Guangxi with PNS,and its serum levels may affect the treatment response to hormones.