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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(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例健康对照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、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(χ2=8.73,P<0.05);SLE患者IRF5rs2004640T、G等位基因的频率分别为0.402、0.598,与对照组比较差异有统计学意义(χ2=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。
Objective: To investigate rs2004640 single nucleotide polymorphism of interferon regulatory factor 5 (IRF5) gene in Shandong Han population and its relationship with susceptibility to systemic lupus erythematosus (SLE). Methods: The rs2004640G / T polymorphisms of IRF5 gene in 92 patients with SLE and 88 healthy controls were analyzed by polymerase chain reaction and restriction fragment length polymorphism to calculate the genotype and allele frequencies. Results: The frequencies of IRF5 rs2004640GG, GT and TT genotypes in SLE patients were 0.198, 0.521 and 0.281 respectively, which were significantly different from those in control subjects (χ2 = 8.73, P <0.05). The frequencies of IRF5 rs2004640T and G allele in patients with SLE were 0.402,0.598, which was significantly different from the control group (χ2 = 7.41, P <0.01). Conclusion: The rs2004640 polymorphism of IRF5 locus in Shandong Han population may be related to the susceptibility to SLE in Shandong Han population.