中性粒细胞集落刺激因子基因多态性在系统性红斑狼疮中分布的研究

A study on the polymorphisms of granulocyte colony-stimulating factor in systemic lupus erythematosus patients in Northern Chinese

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 analyze the polymorphism（s） or mutation（ s） in the granulocyte colony-stimulating factor gone （G-CSF, Csf3） and its possible assoeiation with the. susceptibility to systemic lupus erythematosus （SLE） and lupus nephritis （LN）. Methods： Polymorphism screening of Csf3 was carried out by the polymerase chain reaction-single strand conformation polymorphism method（ PCR-SSCP）, using genomic DNA from 215 patients with SLE and the control of 459 ethnically matched healthy individuals in Northern Chinese. Results： A polymorqhism at position 1931 was identified. The frequency of A/G genotype（60.5 % ） and A allele（53.5 % ） at position 1931 in the patients with SLE were significantly higher than in the healthy controls（51.6 % and 45.2 %, P values less than 0.05 or 0.01, respectively）, whereas the frequency of G/G genotype（ 16.2 % ） and G allele（46.5 % ）in the patients with SLE were lower than those in healthy controls （28.9 % and 54.8 %, P values less than 0.01 .The frequency of genotype A/G was much higher in SLE with pmteinuria（67.1% ） and with haematuria（71.2% ） than in SLE without proteinuria （46.4 %, P 〈 0. 005 ） and without haematuria （ 54.4 %, P 〈 0.05 ）. Conclusion： The results suggest that Csf3 （ 1931 ） be significantly associated with the susceptibility to SLE/LN in Northern Chinese patients. Further studies on population distribution and functions will be followed to verify Csf3（ 1931 ） as one of the susceptibility genes to SLE.