IRF5rs2004640基因多态性与系统性红斑狼疮的相关性研究

目的研究山东地区汉族人群干扰素调节因子5（IRF5）基因rs2004640单核苷酸多态性，探讨其与系统性红斑狼疮易感性之间的关系。方法采用聚合酶链反应和限制性片段长度多态性等方法对92例系统性红斑狼疮患者和88名健康对照IRF5基因rs2004640G／T多态性进行分析，计算基因型和等位基因频率。结果SLE患者IRF5rs2004640GG、GT、TF基因型频率分别是0．198、0．521和0．281，与对照组有显著差异（x^2=8．73，P〈0．05）；SLE患者IRF5 rs2004640T、G等位基因的频率分别为0．402、0．598，与对照组有显著差异（x^2=7．41，P〈0．01）。结论山东汉族人群IRF5基因位点rs2004640的多态性，可能与山东地区汉族人群SLE的易感性有关。

Relative study between IRF5 rs2004640 Gene polymorphism and SLE

Objective To investigate single nucleotide polymorphism site rs2004640 of IRF5 and to detect the relationship with SLE in a population from Shandong province. Methods The polymorphism （rs2004640G/T） was detected with PCR- RFLP in 92cases of SLE and 88 bealthy controls. The genotype and allele frequencies were calculated and analyzed. Results （ 1 ） The genotype frequencies of GG, GT and TT in rs2004640 site in SLE were 0. 198, 0.521 and 0.281respectively. The difference was significant between SLE and control （x^2 = 8.73, P 〈 0.05）. （2） The allele frequencies ofT and G in rs2004640 site in SLE were 0.402, 0.598 respectively. The difference was significant between SLE and control （Z2 = 7.41, P 〈 0.01 ）. Conclusion The polymorphism of rs2004640 in IRF5 may be associated with SLE in the population of Han nationality from Shandong province of China.