成人特发性膜性肾病遗传易感性与中医证型的关联性研究

Association of Genetic Susceptibility with TCM Syndromes to Idiopathic Membranous Nephropathy in Adults

目的:探讨特发性膜性肾病(IMN)的足细胞裂隙隔膜相关蛋白基因NPHS1、NPHS2与中医辨证分型的关联。方法:收集原发性肾病综合征患者200例,其中实验组(IMN)38例,对照组(非IMN)162例,两组病人外周血淋巴细胞中获得基因组DNA进行序列分析、测定,分析NPHS1基因G349A位点、NPHS2基因G686A,C695T位点的多态性及其与中医证型关联。结果:(1)两组年龄分布差异有统计学意义(P<0.05);(2)两组NPHS1基因G349A位点基因型频率分布差异有统计学意义(P<0.05)。实验组纯合突变AA基因型频率明显高于对照组;杂合突变GA基因型频率明显低于对照组;(3)两组NPHS2基因G686A,C695T位点未发现多态性改变;(4)两组中医证型本虚证中气(阳)虚证、阴虚证差异有统计学意义(P<0.05);两组标实证中湿热证和血瘀证差异有统计学意义(P<0.05)。(5)未发现候选基因多态性与中医辨证分型的明显相关性。结论:在PNS患者中IMN患者年龄偏大。NPHS1基因G349A位点基因型AA与IMN发病有相关性。IMN中医证型气(阳)虚证、血瘀证明显多于非IMN患者,阴虚证、湿热证明显少于非IMN患者。未发现候选基因多态性与中医辨证分型的明显相关性。

Objective：To assess SNP polymorphisms of G349A-3 in NPHS1 gene,of 686G/A-5,695C/T-5 in NPHS2 gene among corticosteroid therapy patients of IMN.Simultaneously to explore the correlation between genotypes and TCM syndromes.Methods：38 consecutive randomized patients of IMN in experimental group,and 162 consecutive randomized patients of other types of PNS in control group were included in this study.Genomic DNA was obtained from peripheral blood lymphocytes and sequence analysis of SNP polymorphisms in the genes was performed.Results：（1） the experimental group compared with control group,the difference in age distribution was statistically significant （P0.05）;（2）the experimental group compared with control group,the difference in genotype AA and GA of NPHS1 gene were statistically significant （P0.05）;（3）the SNP polymorphisms of 686G/A-5,695C/T-5 in NPHS2 gene didn＇t be discovered in all patients;（4） the experimental group compared with control group,the difference in qi（yang） deficiency syndrome 、ying deficiency syndrome、damp-heat syndrome and blood stasis syndrome were statistically significant （P0.05）;（5） the correlation between genotypes and TCM syndromes didn＇t be discovered.Conclusion：Our study find that the age of IMN patients is order than other types of PNS,we also find that homozygous mutations of AA in NPHS1 gene lead to occurrence of IMN.Our study confirms that qi（yang） deficiency syndrome and blood stasis syndrome have a higher incidence in the patients of IMN,and the ying deficiency syndrome and damp-heat syndrome have a higher incidence in other types of PNS patients.In this study,we haven＇t discover the correlation between genotypes and TCM syndromes.