Aiolos基因rs9909593、rs9635726及rs12150079位点多态性与贵州汉族系统性红斑狼疮临床表型的相关性

The correlation between the polymorphism of the Aiolos gene rs9909593,rs9635726 and rs12150079 with the clinical phenotype of Systemic lupus erythematosus in Guizhou Han population

目的探讨Aiolos基因rs9909593、rs9635726及rs12150079位点多态性(SNP)与贵州汉族系统性红斑狼疮(SLE)临床表型的相关性。方法利用Snapshot技术对贵州汉族213例SLE患者和187例健康对照者DNA样本的Aiolos基因3个SNP位点rs9909593、rs9635726及rs12150079进行基因分型,使用SPSS17.0分析软件,χ~2检验比较SLE患者组和健康对照组间、不同临床表型组间的基因型和等位基因频率分布的差异性。将病例资料按照临床表型分类,应用SPSS17.0和SHEsis统计软件进行分析。结果 Aiolos rs9909593位点三种基因型(AG、GG、AA)频率在SLE组分别为0.437%、0.080%、0.483%,健康对照组分别为0.412%、0.064%、0.524%;等位基因频率(A、G)患者组分别为65.30%和34.70%,健康对照组分别为0.702%、0.298%和0.730%、0.270%,基因型和等位基因频率分布在患者组和健康对照组间差异均无统计学意义(P均>0.05);在病例-对照、病例-病例分析中,各项亚临床表型组间基因型、等位基因频率分布差异均无统计学意义(P均>0.05)。单倍型分析后ACG、GCA、GCG、GTA、GTG在病例-病例分析(如比较有蝶形红斑的SLE患者和无蝶形红斑的SLE患者之间的分布)无显著性差异(P均>0.05);在亚表型-对照分析(如比较有蝶形红斑的SLE患者/无蝶形红斑的SLE患者与正常对照之间的分布)无显著性差异(P均>0.05)。结论 Aiolos基因rs9909593、rs9635726及rs12150079单核苷酸多态性可能与贵州汉族人群SLE的易感性和临床表型无相关性。

Objective To explore the correlation between the various clinical phenotypes of systemic lupus erythematosus（SLE） with polymorphism（SNP） of Aiolos gene rs9909593,rs9635726 and rs12150079 in Guizhou Han population. Methods The genotyping of Aiolos gene SNP rs9909593,rs9635726 and rs12150079 in the DNA samples of 213 patients and 187 healthy controls in Guizhou Han population were performed using the Snapshot technique. Using SPSS17. 0 analysis software,the differences of genotype and allele frequency distribution of patients and healthy control groups,and different clinical phenotypes were compared by chi-square test.Results The frequency of three genotypes（AG,GG,AA） in Aiolos rs9909593 was 0. 437%,0. 080% and0. 483% respectively in SLE group. In the healthy control group,the frequency was 0. 412%,0. 064% and0. 524% respectively. Allele frequency（A,G） was 65. 30% and 34. 70% respectively,while in the healthy control group the frequency was 0. 702%,0. 298%,0. 730% and 0. 270% respectively. There was no statistically significant difference in the genotype and the allele frequency distribution between the patients group and the healthy control group（P〈0. 05）. There was no statistically significant difference in genotype and allele frequency distribution among subclinical phenotypes in case-control and case-case analysis（P〈0. 05）. Using haploid type case analysis,there was no significant difference in ACG,GCA,GCG,GTA and GTG（P〈0. 05）,such as comparing SLE patients with and without butterfly erythema. There was no significant difference between subphenotypic and comparative analysis（such as SLE patients with and without butterfly erythema）（P〈0. 05）.Conclusion The single nucleotide polymorphisms of Aiolos gene rs9909593,rs9635726 and rs12150079 may have no correlation with the susceptibility and clinical phenotypes of SLE in Guizhou Han population.