Luo Yue-zhong, Wang Chao, Zeng Li
Department of Nephropathy, First Affiliated Hospital of Guangzhou University of Traditional Chinese Medicine, Guangzhou.
Zhongguo Zhong Xi Yi Jie He Za Zhi. 2012 Jul;32(7):914-7.
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).
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.
(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).
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.
探讨微小病变病(MCD)患者中医证候与NPHS1基因、NPHS2基因多态性及糖皮质激素敏感性之间的相关性。
共纳入94例MCD患者,其中58例为激素敏感型肾病综合征(SSNS)患者,36例为激素抵抗型肾病综合征(SRNS)患者。从外周血淋巴细胞中提取基因组DNA,并对基因中的单核苷酸多态性(SNP)进行序列分析。
(1)在MCD中发现了NPHS1基因的G349A - 3 SNP,但未发现NPHS2基因的G686A - 5和C695T - 5 SNP。(2)比较NPHS1基因(G349A - 3)中基因型AA和等位基因A的频率时,SRNS组的基因型AA和等位基因A高于SSNS组(P < 0.05)。(3)与SRNS组相比,SSNS组中阳气虚证的发生率较高,阴虚证和气阴两虚证在SSNS中的发生率较低,但无统计学差异(P > 0.05)。SSNS组中风湿证的发生率较高(P < 0.05)。SSNS组中血瘀证的发生率较低,有统计学差异(P < 0.05)。(4)GG、AA、GA与中医证候之间的相关性无统计学差异(P > 0.05)。
NPHS1基因中AA纯合突变和等位基因A与MCD的SRNS患者相关。风湿证患者对糖皮质激素敏感,而血瘀证患者对糖皮质激素不敏感。未发现NPHS1基因多态性与中医证候分布之间的相关性。