中文摘要：

目的研究OLFl／EBF相关锌指蛋白基因（OAZ）上的单核苷酸多态性（SNP）与中国人群系统性红斑狼疮（SLE）发病的相关性。方法利用243个中国SLE患者核心家系DNA．依据http：／／www．hapmap．org/数据库中的信息，选取了OAZ基因上的35个SNP位点进行等位基因分型，以Haploview、Genehunter和Fbat生物信息学软件分析其与中国人SLE发病的相关性。结果对等位基因分型结果进行家系传递不平衡检验（TDT），提示rsl420683，rs6500240显示传递不平衡，rsl420683等位基因G优势传递给患者，传递：不传递=86：50，P=0．002；rs6500240等位基因C优势传递给患者，传递：不传递=88：56，P=0．008。结论OAZ基因上的SNP位点rs1420683和rs6500240与SLE发病相关．未发现这两个位点的突变影响转录因子的结合，并且相互之间并没有存在强的连锁关系，可能与邻近的某个影响蛋白结构或表达的功能性SNP存在连锁不平衡，需要进一步研究证实。

英文摘要：

Objective To explore the association between systemic lupus erythematosus （SLE） and single nucleotide polymorphism within OLF-1/EBF associated zinc finger protein （OAZ）. Methods Thirty- five SNPs in OAZ gene （based on http：//www.hapmap.org/） were chosen for genotyping on 243 Chinese SLE pedigrees using TaqMan MGB allelic discrimination method. Haploview software, Fbat software and Genehunter software were used to estimate the association between these SNPs and SLE. Results TDT analysis was used for analysis of the genotyping results. The allele G of the SNP rs1420683 showed a trend of preferential transmission to the affected individual （transmitted：untransmitted=86：50, P=0.002）. The allele C of the SNP rs6500240 showed a trend of preferential transmission to the affected individual （transmitted：untransmitted= 88：56, P=0.008）. Conclusion SNPs of OAZ gene （rs1420683 and rs6500240） are associated with SLE. No correlation of the two SNPs can be found with the combination of transcription factors. These two SNPs may be in linkage disequilibrium with functional SNPs nearby or with those SNPs which affect protein structure for the expression of the gene. Further studies are needed.