粒细胞集落刺激因子受体内含子基因多态性与系统性红斑狼疮的关系

Polymorphism in the introns of granulocyte colony-stimulating factor receptor gene in patients with systemic lupus erythematosus

目的探讨粒细胞集落刺激因子受体（G—CSFR）内含子基因多态性的分布特点及与系统性红斑狼疮（SEE）易感性和临床特征的关系。方法采用聚合酶链反应-单链构象多态性（PCR—SSCP）分析方法检测144例SEE患者和489名正常对照组G—CSFR基因第5内含子9606位点及第12内含子14233位点基因型。结果SEE患者G—CSFR基因第5内含子9606位点AG基因型频率（61．8％）及G等位基因频率（37．8％）较对照组（47．0％及27．6％）明显升高（P〈0．01）；而AA基因型频率（31．3％）及A等位基因频率（62．2％）较对照组（48．9％及72．4％）明显降低（P〈0．01）。SEE伴临床表现及实验室指标异常的患者与不伴临床表现及实验室检查异常的SEE患者相比较，各基因型频率及各等位基因频率差异无统计学意义（P均〉0．05）。在全部病例和对照组中未发现G-CSFR基因第12内含子14233位点的单核苷酸多态现象。结论SEE患者G-CSFR基因第5内含子9606位点AG基因型及G等位基因与SEE发病相关，各基因型及等位基因与SEE各临床表现及各项实验室指标无关。G-CSFR基因可能是SEE易感基因。

Objective To investigate the association between the single nucleotide polymorphism （SNP） in the introns of granulocyte colony-stimulating factor receptor （G-CSFR） gene and systemic lupus erythematosus （SLE）. Methods The genotypes at position 9606 in the 5th intron and position 14233 in the 12th intron of G-CSFR gene were determined by polymerase chain reaction-slngle strand conformation polymorphism （PCR-SSCP） method in 144 patients with SLE and 489 ethnically matched controls. Results The frequencies of AG genotype （61.8%） and G allele （37.8%） at position 9606 in patients with SLE were significandy higher than those （47.0% and 27.6%, respectively） in controls （P〈0.01, respectively）; whereas, the frequencies of AA genotype （31.3%） and A allele （62.2%） in patients with SLE were remarkably lower than those （48.9% and 72.4%, respectively） in controls （P〈0.01, respectively）. There was no significant association between any genotype or allele at position 9606 and each specific clinical or laboratory variable （P〉0.05）. At position 14233, no SNP was detected in all of the patients and controls. Condusion AG genotype and G allele at position 9606 in the 5th intron of G-CSFR gene are probably contribute to the susceptibility of SLE. None of the genotypes or alleles at position 9606 is related to clinical manifestations and any laboratory abnormalities in patients with SLE.