摘要：目的 探讨HLA-DQB1 基因单核苷酸多态性（single nucleotide polymorphisms, SNP）与汉族人群系统性红斑狼疮（systemic lupus erthematosus, SLE）遗传易感性的相关性。方法 通过聚合酶链式反应-连接酶检测反应(polymerase chain reaction-ligase detection reaction，PCR-LDR)技术对908例SLE 患者和961例健康对照rs3129716（HLA-DQB1）位点进行基因分型，同时结合临床表现分型，分析该位点与疾病及临床表型的相关性。分型结果用PLINK1.07软件进行统计分析。结果 rs3129716（HLA-DQB1）位点等位基因频率和基因型频率在SLE疾病组和对照组的分布差异无统计学意义（P>0.05）。三种遗传模型下的分析显示，两组间差异无统计学意义（P>0.05）。将SLE 患者按血清学指标及临床表现分型，未发现相关性。结论rs3129716（HLA-DQB1）与中国汉族人群SLE患者遗传易感性不相关。

Abstract: Objective To investigate the association between single nucleotide polymorphisms (SNPs) in HLA-DQB1 gene and systemic lupus erthematosus (SLE) in a Han Chinese population. Methods SNP rs3129716 (HLA-DQB1) from 908 SLE patients and 961 healthy controls were genotyped using polymerase chain reaction-ligase detection reaction (PCR-LDR). The associations of the SNPs with the various serological markers and clinical manifestations of SLE were statistically analyzed by using PLINKv1.07. Results No statistically significant difference for the allelic or genotypic frequencies of rs3129716 was found between SLE patients and healthy controls. In three genetic models no significant difference for the frequencies of rs3129716 was found between the two groups．No evidence of association between rs3129716 variant and any clinical features. Conclusion rs3129716(HLA-DQB1) may be unrelated to SLE in a Han Chinese population．