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(TOT)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 identify the association of PBXI 3' downstream single nucleotide polymorphisms (SNP) rs3185695 with the pathogenesis of systemic lupus erytheatosus (SLE), Methods The SNP downstream PBX1 3' was detected by sequencing, which was named rs3185695 by NCBI, Then the SNP was genotyped by allelic discrimination-PCR (AD-PCR) with ABI Prism 7700 sequence detector (PE Applied Biosystcms). Haploview software and extended transmited disequilibrium analysis (ETDT) were used to estimate the association between the SNP and SLE. Results The allele G of the SNP rs3185695 showed a trend of preferential transmission to the affected offsprings (t:non-t =62:41, P=-0.0385). Conclusion PBX1 may be a novel candidate susceptibile gene for SLE.