中文摘要：

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。

英文摘要：

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.