GTF2I、GTF2IRD1和IL12A基因多态性与中国汉族人群系统性红斑狼疮的相关性研究

发布时间：2019-07-05 18:15

【摘要】：目的探讨GTF2I、GTF2IRD1和IL12A基因单核苷酸多态性(single nucleotide polymorphisms,SNP)与中国汉族人群系统性红斑狼疮(systemic lupus erythematosus,SLE)遗传易感性的相关性。方法通过聚合酶链式反应-连接酶检测反应(polymerase chain reaction-ligase detection reaction,PCR-LDR)技术对908例SLE患者和961例健康对照rs117026326(GTF2I)、rs4717901(GTF2IRD1)和rs485497(IL12A)、rs583911(IL12A)位点进行基因分型,用间接免疫荧光、双扩散法检测抗SSA、SSB、Sm、RNP、ds DNA抗体,同时结合临床表现分型,分析SNPs与SLE及血清学指标和临床表现的相关性。分型均采用PLINK1.07软件进行统计学分析。结果rs117026326(GTF2I)等位基因频率及基因型频率分布在疾病组和对照组间差异有显著统计学意义(等位基因:P=2.71×10-40,基因型:P=3.36×10-52)。与对照组相比T等位基因频率和T/T基因型频率在SLE组中明显升高,三种遗传模型下基因型频率差异有显著统计学意义(均P0.05)。Rs4717901(GTF2IRD1)等位基因频率及基因型频率在两组间差异有统计学意义(等位基因:P=3.08×10-23,基因型:P=4.25×10-20),三种遗传模型下基因型频率差异有统计学意义(均P0.05),rs117026326和rs4717901均与SLE血清学指标及临床表型相关(均P0.05),而rs485497(IL12A)、rs583911(IL12A)位点等位基因频率和基因型频率在两组间差异无统计学意义(P0.05)。三种遗传模型下基因型频率在两组间差异仍无统计学意义(均P0.05)。且rs485497和rs583911均与SLE血清学指标及临床表型不相关(均P0.05)。结论Rs117026326(GTF2I)和rs4717901(GTF2IRD1)与中国汉族人群SLE易感性相关,rs485497(IL12A)、rs583911(IL12A)与中国汉族人群SLE患者遗传易感性不相关。
[Abstract]:Objective to investigate the relationship between single nucleotide polymorphism (single nucleotide polymorphisms,SNP) of GTF2I,GTF2IRD1 and IL12A genes and genetic susceptibility to systemic lupus erythematosus (systemic lupus erythematosus,SLE) in Chinese Han population. Methods Polymerase chain reaction-ligase detection (polymerase chain reaction-ligase detection reaction,PCR-LDR technique was used to genotype rs117026326 (GTF2I), rs4717901 (GTF2IRD1), rs485497 (IL12A), rs583911 (IL12A) sites in 908 patients with SLE and 961 healthy controls. Anti-SSA,SSB,Sm,RNP,ds DNA antibodies were detected by indirect immunofluorescence and double diffusion method. The correlation between SNPs and SLE, serological indexes and clinical manifestations was analyzed. PLINK1.07 software was used for statistical analysis. Results there were significant differences in the frequency and genotypic frequency of rs117026326 (GTF2I) between the disease group and the control group (P 鈮，

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