IRF5基因多态性与山东汉族人群系统性红斑狼疮的相关性研究

摘要

Objective To investigate two single nucleotide polymorphism sites of IRF5 and to de-tect their relationship with SLE in a population from Shandong province. Methods The polymorphisms (rs2004640 G/T,rs10954213 G/A) were detected with PCR-RFLP in 92 eases of SLE and 88 healthy con-trols. The genotype and allele frequencies were calculated and analyzed. Results The genotype frequencies Of GG, GT and TT in rs2004640 site in SLE were 0. 198, 0.521 and 0.281, respectively. The difference was significant between SLE and centrol (X2 = 8.73, P < 0.05). The genotype frequencies of GG, GA and AA in rs10954213 site in SLE were 0. 318, 0. 409 and 0.273, respectively. The differenee was significant between SLE and control (X2 = 6. 36, P < 0. 05). Conclusion The polymorphism of rs2004640, rs10954213 in IRF5 may be associated with SLE in the population of Han nationality from Shandong province of China.%目的 研究山东地区汉族人群干扰素调节因子5(IRF5)基因rs2004640、rs10954213单核苷酸多态性,探讨其与系统性红斑狼疮(SLE)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SLE患者和88名健康对照IRF5基因rs2004640 G/T、rs10954213 G/A多态性进行分析,计算基因型和等位基因频率.结果 SLE患者IRF5 rs2004640GG、GT、TT基因型频率分别是0.198、0.521和0.281,与对照组比较差异有统计学意义(X2=8.73,P<0.05);SLE患者IRF5 rs10954213 GG、GA、从基因型频率分别是0.318、0.409和0.273,与对照组间差异有统计学意义(X2=6.36,P<0.05).结论 山东汉族人群IRF5基因位点rs2004640、rs10954213的多态性,可能与山东地区汉族人群SLE的易感性有关,需进一步累积更多数据证实.