【摘要】：目的探討GTF2I、GTF2IRD1和IL12A基因單核苷酸多態(tài)性(single nucleotide polymorphisms,SNP)與中國漢族人群系統(tǒng)性紅斑狼瘡(systemic lupus erythematosus,SLE)遺傳易感性的相關性。方法通過聚合酶鏈式反應-連接酶檢測反應(polymerase chain reaction-ligase detection reaction,PCR-LDR)技術對908例SLE患者和961例健康對照rs117026326(GTF2I)、rs4717901(GTF2IRD1)和rs485497(IL12A)、rs583911(IL12A)位點進行基因分型,用間接免疫熒光、雙擴散法檢測抗SSA、SSB、Sm、RNP、ds DNA抗體,同時結合臨床表現(xiàn)分型,分析SNPs與SLE及血清學指標和臨床表現(xiàn)的相關性。分型均采用PLINK1.07軟件進行統(tǒng)計學分析。結果rs117026326(GTF2I)等位基因頻率及基因型頻率分布在疾病組和對照組間差異有顯著統(tǒng)計學意義(等位基因:P=2.71×10-40,基因型:P=3.36×10-52)。與對照組相比T等位基因頻率和T/T基因型頻率在SLE組中明顯升高,三種遺傳模型下基因型頻率差異有顯著統(tǒng)計學意義(均P0.05)。Rs4717901(GTF2IRD1)等位基因頻率及基因型頻率在兩組間差異有統(tǒng)計學意義(等位基因:P=3.08×10-23,基因型:P=4.25×10-20),三種遺傳模型下基因型頻率差異有統(tǒng)計學意義(均P0.05),rs117026326和rs4717901均與SLE血清學指標及臨床表型相關(均P0.05),而rs485497(IL12A)、rs583911(IL12A)位點等位基因頻率和基因型頻率在兩組間差異無統(tǒng)計學意義(P0.05)。三種遺傳模型下基因型頻率在兩組間差異仍無統(tǒng)計學意義(均P0.05)。且rs485497和rs583911均與SLE血清學指標及臨床表型不相關(均P0.05)。結論Rs117026326(GTF2I)和rs4717901(GTF2IRD1)與中國漢族人群SLE易感性相關,rs485497(IL12A)、rs583911(IL12A)與中國漢族人群SLE患者遺傳易感性不相關。
[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，

本文編號：2510721