CD11b单核苷酸多态性与中国汉族系统性红斑狼疮的研究

Association of CD11b Single Nucleotide Polymorphism with Systemic Lupus Erythematosus in Chinese Han Population

目的分析CD11b基因rs1143679的单核苷酸多态性(SNP)在中国汉族系统性红斑狼疮(SLE)患者中的表达,并阐明该SNP与SLE临床表型的相关性。方法采用病例对照的研究方法,应用PCR-PFLP以及直接测序技术对中国汉族人群中584例系统性红斑狼疮患者和624例健康对照者进行多态性检测,分析基因型和等位基因频率的分布差异,并与临床表型进行相关性分析。结果 (1)SLE患者中CD11b rs1143679 GA基因型频率为1.89%,大大低于欧美国家的基因型频率,与香港及泰国地区接近。(2)CD11b rs1143679 GA基因型与狼疮肾炎有相关性(P=0.01),而与发病时间、关节炎、血液系统、神经系统损害没有统计学差异(P>0.05)。结论 CD11b rs1143679 SNP与中国汉族人群系统性红斑狼疮易感性有关,并可能参与了狼疮肾炎的发生发展。

Objective To investigate the single nucleotide polymorphism（ SNP） expression of CD11 b in Chinese Han patients with systemic lupus erythematosus（ SLE）,and to clarify the association of this SNP with SLE clinical manifestations. Methods The variant of CD11 b,rs1143679 was examined in 584 patients with SLE and 628 healthy controls by a polymerase chain reaction-restriction fragments length polymorphism（ PCR-RFLP） and direct sequencing to compare the frequencies distribution of genotype and allele,and to determine the correlation of CD11 b genotypes and clinical manifestations. Results We found that（ 1） the frequency of CD11 b rs1143679 GA genotype in Chinese Han patients with SLE was 1. 89%,which was much lower than the frequency of European and American,but close to the frequency in Hong Kong and Thailand.（ 2） CD11 b rs1143679 SNP was associated with nephritis（ P = 0. 01）,but not associated with age of onset,arthritis,hematological involvementand neurological impairment（ P〉0.05）. Conclusion The variant of CD11 b rs1143679 SNP has risk for SLE in Chinese Han population,and it may play an important role in the development of lupus nephritis.