Megsin基因C2093T基因多态性与广西汉族人群IgA肾病中医证型关系的研究

Relationship between Megsin gene C2093T polymorphism and TCM syndromes of IgA nephropathy in the Guangxi Han population

目的:探讨Megsin基因C2093T基因多态性与广西汉族人群IgA肾病(IgAN)患者中医证型的关系。方法:中医将IgAN病例辨证分为脾肾气虚证、肝肾阴虚证、气阴两虚证、风湿热毒证4型。采用PCR-RFLP检测86例IgAN组和59名正常组Megsin基因C2093T位点基因多态性;分析其基因型及等位基因在IgAN病不同中医证型中的分布规律。结果:①Hardy-Weinberg平衡检验:Megsin基因C2093T存在3种突变基因型,即CC型、CT型、TT型及C、T两种等位基因,IgAN组和正常对照组Megsin基因C2093T基因型及等位基因频率均具有群体代表性;②IgAN组和正常组3种突变基因型之间频率比较无显著差异,两组C、T两种等位基因频率分布差异具有统计学意义(P<0.05);③IgAN组中医证型分布规律:脾肾气虚证>气阴两虚证>肝肾阴虚证>风湿热毒证;④IgAN脾肾气虚证组基因型中CC型占比例最大,脾肾气虚证组Megsin基因C2093T基因型与正常对照组比较差异有统计学意义(P<0.05);⑤IgAN各中医证型之间基因型及等位基因频率比较均无明显差异。结论:IgAN患者中医证型以虚证为多,脾肾气虚证及气阴两虚证为其主要证型。Megsin基因C2093T位点基因型CC型可能是IgA肾病脾肾气虚证发病的易感基因。

Objective:To investigate the relationship between the polymorphism of the Megsin gene C2093 T and the expression of TCM syndromes in IgA nephropathy patients in Guangxi Han population.Methods:According to TCM syndrome differentiation,IgA nephropathy cases were divided into four types:syndrome of qi deficiency of spleen and kidney,syndrome of yin deficiency of liver and kidney,syndrome of deficiency of both qi and yin and syndrome of wind-dampand and toxic heat.The polymorphism of C2093 T locus of Megsin gene in 86 cases of IgA nephropathy group and 59 cases of normal group was detected by PCR-RFLP and the distribution of its genotype and allele in different TCM syndromes of IgA nephropathy was analyzed.Results:①Hardy-Weinberg balance test showed that there were three mutant genotypes of Megsin gene C2093 T of Megsin gene,namely CC,CT,TT and C,T alleles.The C2093 T genotype and allele frequencies of Megsin gene in IgA nephropathy group and normal group were all representative of population.②There was no significant difference in the frequencies of the three mutant genotypes between IgA nephropathy group and normal group,but the frequency distribution of C and T alleles in two groups had statistical significance(P<0.05).③Distribution regularity of TCM syndromes in IgA nephropathy group:syndrome of qi deficiency of spleen and kidney>syndrome of deficiency of both qi and yin>syndrome of yin deficiency of liver and kidney>syndrome of wind-damp and toxic heat.④The proportion of CC genotype in IgA nephropathy with syndrome of qi deficiency of spleen and kidney group was the largest.The C2093 T genotype of Megsin gene in syndrome of qi deficiency of spleen and kidney group was significantly different from that in normal group(P<0.05).⑤There was no significant difference in genotype and allele frequencies of IgA nephropathy among TCM syndromes.Conclusion:The syndromes of TCM in IgA nephropathy patients are characterized by deficiency syndromes,which the syndrome of qi deficiency of spleen and kidney and the syndrome of deficiency of both qi and yin are the main syndromes.CC genotype of C2093 T of Megsin gene may be a susceptible gene for the pathogenesis of IgA nephropathy with syndrome of qi deficiency of spleen and kidney.