LncRNA-GAS5基因多态性与广西人群系统性红斑狼疮的相关性研究

Study of the association of lncRNA-GAS5 gene polymorphisms with systemic lupus erythematosus in Guangxi population

目的探讨lncRNA-GAS5基因rs55829688和rs75315904多态性与广西人群系统性红斑狼疮(SLE)易感性的相关性。方法选取2017年5月至2019年5月于右江民族医学院附属医院和百色市人民医院就诊的302例SLE患者与396名健康受试者为研究对象。采集SLE组与对照组受试者的静脉血样,提取基因组DNA,用SNPscan技术和Sanger测序对lncRNA-GAS5基因rs55829688和rs75315904位点进行基因分型与分析。结果rs55829688和rs75315904位点的基因型频率在两组之间差异无统计学意义(P>0.05),而rs55829688位点C等位基因的频率在两组之间差异有统计学意义(P<0.05);rs55829688位点C等位基因以及CT+CC基因型在伴有肾炎的患者中的频率显著低于不伴肾炎的患者(P<0.05);单倍型分析发现,rs55829688 C/rs75315904 A等位基因频率在SLE组中显著低于对照组(P<0.05)。结论在广西人群中,lncRNA-GAS5基因rs55829688位点携带C等位基因可能降低SLE及其并发肾炎的发病风险,并且rs55829688 C/rs75315904 A单倍型也可能降低SLE的发病风险。

Objective To assess the association of rs55829688 and rs75315904 polymorphisms of the lncRNA-GAS5 gene with susceptibility to systemic lupus erythematosus(SLE)in Guangxi population.Methods Peripheral venous blood samples were collected from the SLE group and control group.Following extraction of genomic DNA,SNPscan and Sanger sequencing were carried out to determine the genotypes for the rs55829688 and rs75315904 loci of the lncRNA-GAS5 gene.Results No difference was found between the two groups with regard to the genotype frequencies for rs55829688 and rs75315904(P>0.05).However,the frequencies of C allele of rs55829688 between the two groups was significantly different(P<0.05).In the SLE group,the frequencies of C allele and CT+CC genotype for rs55829688 among SLE patients with nephritis were significantly lower than those of SLE patients without nephritis(P<0.05).In addition,haplotype analysis showed that the frequency of rs55829688 C/rs75315904 A allele in the SLE group was lower than that of the control group(P<0.05).Conclusion In Guangxi population,the carrier status of rs55829688 C allele of the lncRNA-GAS5 gene may reduce the risk of SLE and its complicated nephritis,and the rs55829688 C/rs75315904 A haplotype may reduce the risk for SLE.