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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(G-CSF)基因(Csf3)多态性与系统性红斑狼疮(SLE)的相关性。方法采用聚合酶链式反应-单链构象多态性(PCR-SSCP)方法对中国北方汉族人群Csf3基因进行了单核苷酸多态性(SNP)的筛选,通过比较SNP各基因型和等位基因在正常人和SLE患者中分布来研究Csf3与SLE/狼疮肾炎(LN)的相关性。结果共得到Csf3基因的4个SNP,它们分别是Csf3(394)、Csf3(1869)、Csf3(1931)和Csf3(1205),其中Csf3基因-1931位点SNP具有3种基因型即G/G、A/A和A/G,其中G/G纯合子(16．2%)和等位基因G(46．8%)的频率在SLE患者中的分布同正常对照组(分别为28．9%和54．8%,P值均为＜0．01)相比明显降低,而A/G杂合子(60．5%)和等位基因A (53．2%)的频率在SLE患者中的分布明显高于正常对照组(分别为51．6%和45．2%,P值均为＜0．01),两者在其他自身免疫疾病中的分布频率同正常对照组差异无统计学意义。结论Csf3基因与中国北方汉族人群SLE的易感性相关。
Objective To investigate the association between polymorphism of neutrophil colony stimulating factor (Csf3) gene and systemic lupus erythematosus (SLE) in Han population of northern China. Methods Single nucleotide polymorphisms (SNPs) of Csf3 gene were detected by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) in Han population of northern China. By comparing SNP genotypes and others The gene is distributed in normal and SLE patients to investigate the association of Csf3 with SLE / LN. Results Four SNPs of Csf3 gene were obtained, which were Csf3 (394), Csf3 (1869), Csf3 (1931) and Csf3 (1205) , A / A and A / G. The frequencies of G / G homozygote (16.2%) and allele G (46.8%) in SLE patients were significantly higher than those in normal controls (28.9% % And 54.8% respectively, all P <0.01), whereas the frequencies of A / G heterozygotes (60.5%) and allele A (53.2%) were significantly lower in SLE patients (51.6% and 45.2% respectively, P <0.01). There was no statistical difference between the two in the distribution of other autoimmune diseases and normal controls significance. Conclusion The Csf3 gene is associated with the susceptibility to SLE in Han population of northern China.