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目的:以中国北方汉族人群为研究对象,探讨中性粒细胞集落刺激因子(Granulocyte colony-stimulating factor gene,G-CSF,Csf3)基因多态性与系统性红斑狼疮(Systemic lupus erythematosus,SLE)和狼疮性肾炎(Lupus nephritis,LN)的相关性。方法:采用聚合酶链式反应-单链构象多态性(Polymerase chain reaction-single strand conformation polymorphism,PCR-SSCP)方法比较Csf3基因-1931位点单核苷酸多态性(Single nucleotide polymorphism,SNP)在正常人和SLE/LN病人中的分布。结果:SLE病人中A/G杂合子(60.5%)和等位基因A的频率(53.5%)明显高于正常对照组(51.6%,45.2%;P值分别为小于0.05和0.01)。而G/G纯合子(16.2%)和等位基因G的频率(46.5%)明显低于正常对照组(28.9%,54.8%,P值均小于0.01)。Csf3基因-1931位点A/G型在SLE伴有蛋白尿和伴有血尿病人中的频率明显高于对照组,差别具有统计学意义。结论:Csf3基因不仅与中国北方汉族人群SLE的易感性相关,而且与中国北方汉族人群SLE患者的临床症状蛋白尿和血尿的易感性相关。
Objective: To investigate the relationship between the gene polymorphisms of granulocyte colony-stimulating factor gene (G-CSF, Csf3) and systemic lupus erythematosus (SLE) in Han population of northern China Correlation of Lupus nephritis (LN). Methods: Single nucleotide polymorphisms (SNPs) of Csf3 gene at position-1931 were compared by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) ) In normal and SLE / LN patients. Results: The frequencies of A / G heterozygotes (60.5%) and allele A (53.5%) in SLE patients were significantly higher than those in controls (51.6%, 45.2%; P values were less than 0.05 and 0.01, respectively). However, the frequencies of G / G homozygotes (16.2%) and allele G (46.5%) were significantly lower than those of normal controls (28.9%, 54.8%, P <0.01). The frequency of Csf3 gene -1931 A / G genotype in patients with SLE associated with proteinuria and hematuria was significantly higher than that of the control group, the difference was statistically significant. Conclusion: The Csf3 gene is not only associated with the susceptibility to SLE in Han population in northern China, but also with the susceptibility to clinical symptoms such as proteinuria and hematuria in SLE patients in northern Chinese Han population.