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目的探讨ETS1基因单核苷酸多态性(single nucleotide polymorphism,SNP)与汉族人群原发性干燥综合征(primary sjgren’s syndrome,pSS)遗传易感性是否相关。方法提取261例pSS患者和597例健康对照者的全基因组DNA。使用Sequenom MassArray方法对ETS1基因上2个SNP位点(rs6590330和rs1128334)进行基因分型。分型结果使用PLINK 1.07软件进行统计分析。结果 rs6590330位点GG、GA、AA基因型频率和G、A等位基因频率分布在pSS组和对照组间差异无统计学意义(均P>0.05)。加性模型、显性模型、隐性模型下的分析显示,两组间差异仍无统计学意义(均P>0.05)。将pSS患者按照性别及抗SSA和抗SSB抗体产生情况分组,分析仍未发现任何相关性。rs1128334分型成功率过低无法分析。结论 ETS1基因的SNP位点rs6590330与汉族人群pSS患者遗传易感性不相关。
Objective To investigate whether single nucleotide polymorphism (SNP) of ETS1 gene is associated with genetic susceptibility to primary sjgren’s syndrome (pSS) in Han population. Methods Genomic DNA was extracted from 261 pSS patients and 597 healthy controls. Two SNP sites (rs6590330 and rs1128334) on the ETS1 gene were genotyped using the Sequenom MassArray method. The typing results were analyzed using PLINK 1.07 software. Results The frequencies of GG, GA, AA genotypes and G, A allele frequencies in rs6590330 loci showed no significant difference between pSS group and control group (all P> 0.05). The analysis of additive model, explicit model and implicit model showed that there was no significant difference between the two groups (all P> 0.05). Patients with pSS were grouped by gender and anti-SSA and anti-SSB antibody production and no correlation was found. rs1128334 typing success rate is too low can not be analyzed. Conclusion The SNP locus rs6590330 of ETS1 gene is not related to the genetic susceptibility to pSS in Han population.