摘要:目的探讨核苷酸结合寡聚化结构域蛋白1(NOD1)单核苷酸基因多态性(single nucleotied polymorphism,SNP)与广西汉族人群原发性抗中性粒细胞胞浆抗体(anti⁃neutrophil cytoplasmic antibodies,ANCA)相关性血管炎(ANCA associated vasculitis,AAV)的关联性。方法采用PCR⁃RFLP和DNA测序方法鉴定79例AAV患者(病例组)与112例健康成人(对照组)中NOD1 rs7789045A/T位点基因型,优势比(OR)和95%置信区间(95%CI)用来估计相对危险度,同时对病例组基因型的临床资料、实验室资料进行分析。结果病例组与对照组A、T等位基因频率分别为48.1%、51.9%和59.8%、40.2%,两者分布差异有统计学意义(P=0.023);病例组AA、AT、TT基因型频率分别为20.3%、55.7%、24.0%,对照组AA、AT、TT基因型频率分别为37.5%、44.6%、17.9%,与AA基因型相比,携带AT、TT、AT+TT基因型增加了AAV的发病风险(OR=2.31,95%CI:1.14~4.67)、(OR=2.49,95%CI:1.06~5.85)、(OR=2.36,95%CI:1.21~4.61)。病例组中NOD1 rs7789045的3种基因型间的临床指标(发热、皮疹、关节痛、水肿、蛋白尿、血白细胞、血红蛋白、血尿素氮、血肌酐、血清白蛋白)比较差异无统计学意义(P>0.05)。结论NOD1 rs7789045A/T是广西汉族人群中AAV的易感基因。
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