背景 ANCA相关性小血管炎（ANCA-associated vasculitides，AAV）包括肉芽肿性多血管炎（granulomatosis with polyangiitis ，GPA）、显微镜下多血管炎（microscopic polyangitis ，MPA）和嗜酸细胞性肉芽肿性多血管炎（eosinophilic granulomatosis with polyangitis，EGPA）。前期的AAV易感基因研究主要着眼于白种人，鉴于人群异质性及种族差异的存在，故而本研究着眼于探究HLA-DPB1、PRTN3及CD226基因与中国北方汉族人群AAV的相关性。方法 使用Sequenom MassArray质谱阵列技术（Sequenom iPLEX assay， San Diego，CA）对待检者进行基因分型。本研究共纳入了196例AAV患者（GPA 100例，MPA 76例，EGPA 20例）和485名健康对照者。结果 GPA组与健康对照组比较， Rs3117242（HLA-DPB1）的T等位基因频率显著上升（68.0% vs.50.4%），差异有统计意义（OR = 2.09, 95% CI: 1.51-2.88, Pc ＜0.001），但MPA组、EGPA组与健康对照组比较，差异均无统计学意义（Pc = 0.09，Pc = 0.94）。针对Rs3117242（HLA-DPB1）位点的基因型频率进行分析，其结果与等位基因频率分析结果类似。与健康对照组比较，无论是AAV组或GPA组或PA组或EGPA组，其他基因的SNP位点的等位基因频率或是基因型频率分布的差异均无统计学意义（Pc ＞0.05）。结论 Rs3117242 （HLA-DPB1）是中国北方汉族人群GPA的易感位点。这一研究为深入探讨GPA的发病机制提供了新的线索。

Objective The vasculitis diseases granulomatosis with polyangiitis (GPA), microscopic polyangitis (MPA) and eosinophilic granulomatosis with polyangitis (EGPA) consist of anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitides (AAV). As the major susceptibility genes were identified in Europeans, and the non-ignorable population heterogeneity and race difference, We investigated the linkage between putative AAV-related genes (HLA-DPB1, CD226 and PRTN3) and AAV in a Han Chinese population. Methods A Sequenom MassArray system was used to genotype single nucleotide polymorphisms (SNPs) in 196 Han Chinese patients with AAV (100 with GPA, 76 with MPA, 20 with EGPA) and 485 ethnically-matched healthy controls. Results The frequency of the rs3117242 variant T allele was significantly higher in GPA patients than in the controls (68.0% compared with 50.4%, OR = 2.09, 95% CI: 1.51-2.88, Bonferroni corrected P-value [Pc] ＜0.001), but was not significantly different between MPA patients and controls (Pc = 0.09，Pc = 0.94). The same results were obtained via genotype distribution. The allele and genotype distributions of the other polymorphisms were not significantly associated with AAV patients as a whole or with GPA or MPA or EGPA patients considered separately. Conclusion The rs3117242 of HLA-DPB1 could be considered a genetic risk factor for GPA in Chinese Han people. These findings provide further insights and clues in the etiology of GPA