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目的研究前B淋巴细胞白血病转录因子(PBX1)3’端单核苷酸多态性(SNP)与中国人系统性红斑狼疮(SLE)发病的相关性。方法对PBX1基因3’端下游区域通过测序发现SNP rs3185695, 再对发现的该SNP进行等位基因分型。以Haploview软件和延伸型传递不平衡试验(ETDT)分析SNP与中国人SLE发病的相关性。结果靠近PBX1 3’末端通过测序发现的SNP rs3185695进行家系传递不平衡检验(TDT)提示等位基因G优势传递给患者,传递:不传递(T:U)=62:41,P=0．0385。结论 PBX1基因可能为SLE的候选基因。
Objective To investigate the relationship between the 3 ’single nucleotide polymorphism (SNP) of pre-B lymphoblastic leukemia transcription factor (PBX1) and the pathogenesis of systemic lupus erythematosus (SLE) in Chinese. Methods SNP rs3185695 was detected by sequencing the downstream of 3 ’end of PBX1 gene, and then the SNP was found to be allelic. Haploview software and extended transmission imbalance test (ETDT) analysis of SNP and Chinese SLE incidence. RESULTS: A pedigree transmission disequilibrium test (TDT) of SNP rs3185695 detected by sequencing of the 3 ’end of PBX1 suggested a superior transmission of allele G to patients with no transmission (T: U) = 62:41, P = 0.0385 . Conclusion PBX1 gene may be a candidate gene of SLE.