KCNQ1和RFX3基因表达量作为原发性痛风诊断指标的探讨

Exploration on predicative value of the expression of KCNQ1 and RFX3 in diagnosis of primary gout

目的探讨KCNQ1和RFX3基因表达量作为原发性痛风诊断指标的临床应用。方法收集2018年1-12月广州市海珠区江海街社区卫生服务中心和广州中医药大学第三附属医院原发性痛风患者86例(原发性痛风组),包括急性期31例、间歇期44例、慢性期11例和无症状高尿酸血症患者50例(无症状高尿酸血症组),另选同期来这两家医疗机构体检且无原发性痛风症状,也无高尿酸血症的患者81例作为对照组。采用密度梯度离心法分离外周血单个核细胞(PBMC),实时荧光定量聚合酶链反应(qPCR)检测PBMC中KCNQ1和RFX3 mRNA的表达量,统计分析各组间KCNQ1和RFX3基因水平差异,绘制受试者工作特征曲线(ROC曲线)评价所观察指标的诊断效能。结果原发性痛风组的KCNQ1和RFX3 mRNA表达量显著低于对照组;原发性痛风组急性期KCNQ1和RFX3 mRNA表达量显著低于对照组,差异有统计学意义(P<0.05);无症状高尿酸血症组的KCNQ1 mRNA表达量显著低于对照组,差异有统计学意义(P<0.05);原发性痛风组急性期KCNQ1 mRNA表达量显著低于无症状高尿酸血症组,差异有统计学意义(P<0.05)。ROC曲线分析表明,KCNQ1对原发性痛风诊断性能低于RFX3。结论原发性痛风患者低表达KCNQ1和RFX3基因水平,RFX3对诊断原发性痛风比KCNQ1更灵敏,可以作为临床预测发生原发性痛风患病的阳性率的较好指标。

Objective To analyze the expression of KCNQ1 and RFX3 in serum and explored its predicative value in diagnosis of primary gout.Methods From January to December 2018,a total of 86 patients with primary gout(primary gout group)were collected from the Haizhu district Jianghai street community health service center,the third affiliated hospital of Guangzhou university of Chinese Medicine,including 31 patients with acute stage,44 patients with intermittent stage,11 patients with chronic stage,and 50 patients with asymptomatic hyperuricemia(asymptomatic hyperuricemia group).Another 81 patients with no primary gout symptoms and no hyperuricemia who underwent physical examination at these two medical institutions during the same period were selected as the control group.Peripheral blood mononuclear cells(PBMC)were extracted by Ficoll methods.The expressions of KCNQ1 and RFX3 mRNA in PBMC were detected by real-time fluorescence quantitative polymerase chain reaction(qPCR).The differences in levels of KCNQ1 and RFX3 genes among each group were statistically analyzed,and the receiver operating characteristic curve(ROC curve)was drawn to evaluate the diagnostic efficacy of the observed indicators.Results The mRNA expression levels of KCNQ1 and RFX3 in the primary gout group were significantly lower than those in the control group.The expression levels of KCNQ1 and RFX3 mRNA in the primary gout group were significantly lower than those in the control group,the difference was statistically significant(P<0.05).The expression level of KCNQ1 mRNA in the asymptomatic hyperuricemia group was significantly lower than that in the control group,the difference was statistically significant(P<0.05).The expression level of KCNQ1 mRNA in the acute stage of primary gout group was significantly lower than that in the asymptomatic hyperuricemia group,the difference was statistically significant(P<0.05).ROC curve analysis showed that KCNQ1 was lower than RFX3 in the diagnosis of primary gout.Conclusion Patients with primary gout and hyperuricemia have low expression of KCNQ1 and RFX3.RFX3 is more sensitive to the diagnosis of primary gout than KCNQ1,it can be used as a good marker to predict the positive rate of primary gout.