Meng Yanming, He Yao, Zhang Junlong, Xie Qibing, Yang Min, Chen Yuning, Wu Yongkang
Department of Laboratory Medicine and National Clinical Research Center for Geriatrics, West China Hospital, Sichuan.
Department of Rheumatology, West China Hospital, Sichuan University.
Medicine (Baltimore). 2019 Aug;98(31):e16716. doi: 10.1097/MD.0000000000016716.
The purposes of the study was to validate the relationship between General transcription factor II-I (GTF2I) genetic variants and kidney involvements of systemic lupus erythematosus (SLE) patients in a Chinese Han population.Samples from 400 SLE patients and 400 age- and sex-matched healthy controls were collected and genotyped by improved multiplex ligation detection reaction technique. The relationship between gene polymorphism of rs117026326, rs73366469, and susceptibility, progression of SLE were analyzed.The present study provided evidence that rs117026326 and rs73366469 were both associated with SLE susceptibility (both C vs T: P < .001). The analysis of dominant, recessive disease model provided us with further validation (P < .001). Both gene polymorphisms are associated with a triad of disease manifestations among SLE patients. Patients carrying genotype TT of rs117026326 had lower 24-hour urinary total protein (24 hours UTP, g/24 hours), 24-hour urinary protein level (g/L·24 hours), lower frequency of the proteinuria and lupus nephritis (LN). Patients carrying genotype TT at rs73366469 had higher 24-hour urinary protein level, higher frequency of the proteinuria, LN and positive anti-dsDNA than those with other genotypes.This study identified the involvement of GTF2I gene polymorphisms in development of SLE, particularly in renal involvement.
本研究旨在验证在中国汉族人群中，通用转录因子II-I（GTF2I）基因变异与系统性红斑狼疮（SLE）患者肾脏受累之间的关系。收集了400例SLE患者和400例年龄及性别匹配的健康对照的样本，并采用改进的多重连接检测反应技术进行基因分型。分析了rs117026326、rs73366469基因多态性与SLE易感性、病情进展之间的关系。本研究提供的证据表明，rs117026326和rs73366469均与SLE易感性相关（均为C与T比较：P<0.001）。显性、隐性疾病模型分析为我们提供了进一步的验证（P<0.001）。两种基因多态性均与SLE患者的一系列疾病表现相关。携带rs117026326基因TT基因型的患者24小时尿总蛋白（24小时UTP，g/24小时）、24小时尿蛋白水平（g/L·24小时）较低，蛋白尿和狼疮性肾炎（LN）的发生率较低。携带rs73366469基因TT基因型的患者24小时尿蛋白水平较高，蛋白尿、LN和抗双链DNA阳性的发生率高于其他基因型患者。本研究确定了GTF2I基因多态性参与SLE的发生发展，尤其是肾脏受累。
