趋化因子CXCL12-3’G801A多态性与系统性红斑狼疮的相关性

Association of Chemokine CXCL12-3'G801A Polymorphism with Systemic Lupus Erythematosus in a Han Chinese Population

目的检测系统性红斑狼疮(systemic lupus erythematosus,SLE)患者趋化因子CXCL12-3’G801A基因型分布,探索该基因变异对SLE的易感性及临床表现、自身抗体生成等的影响。方法用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测298例中国汉族SLE患者及243名健康对照者的CXCL12-3’G801A基因型,进行Hardy-Weinberg平衡、组间等位基因及基因型频率比较,分析不同基因型SLE患者的临床特征及实验室检查结果。结果 CXCL12-3’801G/G纯合子频率在SLE患者中明显增高(P=0.015),同时携带该基因型的SLE患者易出现光敏感(P=0.014)及肾脏损害(P=0.009),且SLE疾病活动性积分显著增高(P=0.048),抗dsDNA抗体(P=0.004)、抗核小体抗体(P=0.003)阳性率亦明显高于其他基因型患者。结论 CXCL12-3’G801A基因变异参与中国汉族人群SLE疾病易感性过程,并可通过影响自身抗体的生成而影响SLE患者的临床表现及疾病活动性。

Objective To detect the distribution of CXCL12-3＇G801A polymorphism genotypes in Chinese population.And to analyze the influence of this gene variant on susceptibility,clinical manifestations and auto-antibody productions of systemic lupus erythematosus（SLE）.Methods A total of 298 SLE patients and 243 healthy controls were recruited in this study.Polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP） was performed to detect the genotypes of SLE patients and controls.Clinical features and sera tests were analyzed between different CXCL12-3＇G801A genotypes.Hardy-Weinberg equilibrium and the difference of CXCL12-G801A genotype and allele frequencies between SLE patients and healthy subjects were examined by Pearson Chi-Square test or Fisher＇s exact test.Results The frequency of CXCL12-3＇801 G/G homozygote was significant higher in SLE group（SLE = 61.4% vs controls = 51.0%,P = 0.015）.SLE patients with G/G homozygote were more prone to suffer solar sensitivity（P = 0.014）,renal involvement（P = 0.009） and an elevation of SLE disease activity index（P = 0.048）.Moreover,the prevalence of antibodies against dsDNA（P = 0.004） and nucleosomes（P = 0.003） was elevated significantly in patients carrying G/G homozygote.Conclusion CXCL12-G801A polymorphism might be a risk factor influencing SLE susceptibility,clinical features through increasing the productions of pathological antibodies.