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目的研究P-选择素基因变异与原发性IgA肾病的相关性。方法在用直接测序法广泛筛查P-选择素基因全部编码区、部分调控区和外显子-内含子连接区并发现16个单核苷酸多态性(SNP)的基础上,挑选9个中高频SNPs(频率>5％)。选上海瑞金医院肾科收治的汉族原发性IgA肾病患者210例及健康对照者103例,用PCR产物直接测序法进行基因分型,对IgA肾病进行病例-对照相关分析。结果(1)IgA肾病者AA基因型频率(78．1％)明显高于健康对照者(65．1％,P =0．0136),AG+GG基因型频率(21．9％)明显低于健康对照者(34．9％,P=0．0136);IgA肾病者等位基因A频率(88．6％)明显高于健康对照者(81．6％,P=0．0165),等位基因G频率(11．4％)明显低于健康对照者(18．4％,P=0．0165)。危险度相关分析,AG+GG基因型使IgA肾病发病危险性下降为52．2％(OR=0．522,95％CI为0．311～0．875)。(2)96例IgA肾病者外周血P-选择素水平为(26．8±9．1)μg／L,显著高于健康对照者[(19．6±4．5)μg／L,P<0．01],-825A／G多态性AA基因型者的P-选择素水平[(28．1±9．0)μg／L]显著高于AG+GG基因型[(23．4±8．5)μg／L,P<0．05]。结论P-选择素基因启动子区-825A／G与IgA肾病易感性及患者肾功能显著相关,揭示了P-选择素基因在IgA肾病中的致病作用。
Objective To study the relationship between P-selectin gene mutation and primary IgA nephropathy. Methods Based on the extensive screening of all coding regions, partial regulatory regions and exon-intron junction regions of P-selectin gene using direct sequencing and the discovery of 16 SNPs, Nine high-frequency SNPs (frequency> 5%). 210 cases of primary IgA nephropathy and 103 healthy control subjects admitted to Shanghai Ruijin Hospital were enrolled in this study. Genotyping was performed by direct sequencing of PCR products. Case-control analysis was performed on IgA nephropathy. Results (1) The frequency of AA genotype in IgA nephropathy (78.1%) was significantly higher than that in healthy controls (65.1%, P = 0.0136), and the frequency of AG + GG genotype (21.9%) was significantly lower (34.9%, P = 0.0136). The frequency of allele A in IgA nephropathy (88.6%) was significantly higher than that in healthy controls (81.6%, P = 0.0165) The frequency of allele G (11.4%) was significantly lower than that of healthy controls (18.4%, P = 0.0165). Risk-related analysis, AG + GG genotypes reduced the risk of IgA nephropathy to 52.2% (OR = 0.522, 95% CI 0.311 ~ 0.875). (2) The level of P-selectin in 96 patients with IgA nephropathy was (26.8 ± 9.1) μg / L, which was significantly higher than that in healthy controls [(19.6 ± 4.5) μg / L, P <0.01]. The P-selectin level of [28.1 ± 9.0] μg / L] in the -255A / G polymorphism AA genotype was significantly higher than that of the AG + GG genotype [(23.4 ± 8.5) μg / L, P <0.05]. Conclusion The P-selectin gene promoter region -825A / G is significantly associated with IgA nephropathy susceptibility and renal function in patients with IgA nephropathy, which reveals the pathogenic role of P-selectin gene in IgA nephropathy.