成人微小病变肾病NPHS1、NPHS2基因多态性与激素敏感性和中医证型关系的分析

Correlation between Chinese Medicine Syndromes and the NPHS1 Gene and NPHS2 Gene Polymorphism as well as Corticosteroid Sensitivity in Patients with Minimal Change Disease

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中文关键词: 微小病变肾病基因多态性激素敏感性中医证型

英文关键词:minimal change disease gene polymorphism corticosteroid sensitivity Chinese medicine syndrome

基金项目:国家自然科学基金资助项目(No.30772863)

作者	单位
罗月中	广州中医药大学第一附属医院肾病科
王超	广州中医药大学第一附属医院肾病科
曾莉	广州中医药大学第一附属医院肾病科

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中文摘要:

目的探讨成人微小病变肾病(MCD)的足细胞裂隙隔膜相关蛋白基因NPHS1、NPHS2多态性及其与激素敏感性和中医辨证分型的关联。方法共收集MCD病例94例,其中激素敏感型原发性肾病综合征58例(SSNS组),难治性原发性肾病综合征36例(SRNS组)。分别从上述两组患者外周血淋巴细胞中获得基因组DNA进行序列分析测定,分析候选基因NPHS1、NPHS2的多态性及其与中医证型的关联。结果 (1)NPHS1-3(G349A)基因位点存在多态性改变,NPHS2-5(G686A、C695T)位点未发现基因多态性改变;(2)SRNS组NPHS1-3(G349A)基因型AA和A等位基因频率明显高于SSNS组(P<0.05);(3)SSNS组气阳虚证比例多于SRNS组,阴虚证、气阴两虚证比例低于SRNS组,但差异均无统计学意义(P>0.05);SSNS组风湿证比例明显高于SRNS组,而血瘀证比例明显低于SRNS组,差异有统计学意义(P<0.05);(4)基因型GG、AA、GA与中医各证型之间的关联无统计学意义(P>0.05)。结论 NPHS1纯合突变AA和等位基因A与MCD的SRNS有关联;风湿证患者偏于对激素敏感,血瘀证患者偏于对激素不敏感;未发现NPHS1基因多态性与中医证型分布的关联。

英文摘要:

Objective To explore the correlation between Chinese medicine(CM) syndromes and the NPHS1 gene and NPHS2 gene polymorphism as well as corticosteroid sensitivity in patients with minimal change disease(MCD).Methods A total of 94 MCD patients were recruited,including 58 steroid-sensitive nephritic syndrome(SSNS) patients and 36 steroid-resistant nephritic syndrome(SRNS) patients.Genomic DNA was obtained from peripheral blood lymphocytes and sequence analysis of single nucleotide polymorphisms(SNPs) in the genes was performed.Results(1) The SNPs of G349A-3 in NPHS1 gene was found in MCD,but the SNPs of G686A-5 and C695T-5 in NPHS2 gene were not discovered in MCD.(2) When comparing the frequency of genotype AA and allele A in NPHS1 gene(G349A-3),genotype AA and allele A were higher in the SRNS group than in the SSNS group(P<0.05).(3) When compared with the SRNS group,qi yang deficiency syndrome had a higher incidence in the SSNS group,and yin deficiency syndrome and qi-yin deficiency syndrome had a less incidence in the SSNS,but with no statistical difference(P>0.05).The rheumatism syndrome had a higher incidence in the SSNS group(P<0.05).The blood stasis syndrome had a lower incidence in the SSNS with statistical difference(P<0.05).(4) There was no statistical difference in the correlation between GG,AA,GA and CM syndromes(P>0.05).Conclusions Homozygous mutations of AA and allele A in NPHS1 gene were correlated to SRNS patients of MCD.Rheumatism syndrome patients were prone to be sensitive to corticosteroids,while patients of blood stasis syndrome were prone to be insensitive to corticosteroids.We didn’t discover the correlation between NPHS1 gene polymorphism and CM syndrome distribution.

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