Objective To investigate the association between the gene polymorphism of interleukin receptor-1 related kinase-M (IRAKM) 22148 A/G and ANCA-associated vasculitis (AAV). Methods The IRAKM + 22148-A/G polymorphism in 121 AAV patients and 216 controls was analyzed by PCR-RFLP. Clinical and pathologic data of the AAV patients with different genotype were also compared. Results The genotypic frequency of IRAKM + 22148 in the AAV patients was 20. 7％ for AA, 28. 1％ for GG, and 51. 2％ for AG, whereas the corresponding percentage in the controls was 23. 6％ for AA, 28. 6％ for GG, and 47. 8％ for AG. The allele frequencies of IRAK-M + 22148 was 46. 3％ for A and 53. 7％ for G in the AAV patients, as 47. 7％ for A and 55. 3％ for G in the controls. No significant difference was found in either genotype distribution or allele frequencies between the AAV patients and the controls (P ＞ 0. 05). Significant increase in cholesterol was found in AA genotype than the other two genotypes (P ＜ 0. 05). No significant difference was found in clinical manifestation, AI and CI among AA, GG and AG genotypes in AAV patients. Conclusion In AAV patients, IRAKM + 22148-A/G gene polymorphism may be associated with cholesterol without significant correlation with genetic susceptibility to primary AAV.%目的 探讨白细胞介素1受体相关激酶-M(IRAKM) + 22148-A/G 基因多态性与广西汉族人群原发抗中性粒细胞胞浆抗体(ANCA) 相关性小血管炎(AAV) 易感性之间的关系.方法 采用PCR-RFLP 方法 检测121例AAV 患者和216例性别、年龄相匹配的健康成人(对照组) IRAM + 22148-A/G 基因型,行病例-对照研究,并分析基因型与AAV 患者临床症状、生化指标及病理指标的关联性.结果 (1)AAV 组AA、GG、AG 型分布频率分别为20. 7％、28. 1％、51. 2％ ,对照组AA、GG、AG 型分布频率分别为23. 6％、28. 6％、47. 8％;AAV 组A、G 等位基因分布频率分别为46. 3％、53. 7％ ,对照组A、G 等位基因分布频率分别为47. 7％、55. 3％ ,两者基因型及等位基因分布频率比较差异无统计学意义(P ＞ 0. 05) .(2) AAV 患者3种基因型间胆固醇水平差异有统计学意义(P ＜ 0. 05) ,其中AA 型高于AG、GG 型.(3) AAV 患者3种基因型的临床表现及肾脏病理AI、CI 评分差异均无统计学意义(P ＞ 0. 05) .结论 IRAKM + 22148-A/G 基因多态性可能与广西人AAV 患者的遗传易感性不相关,可能与其胆固醇水平存在相关性.
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