| 摘要: |
| ［摘要］ 目的 探索广西人群mTOR基因rs4845856位点单核苷酸多态性（SNP）与抗中性粒细胞胞浆抗体（ANCA）相关性血管炎（AAV）的关系。方法 纳入2005—2022年在广西医科大学第二附属医院、梧州市工人医院确诊为AAV的住院门诊患者212例作为研究对象（AAV组），另选择同期208名健康体检者作为对照组。采用多重聚合酶链反应结合高通量测序法，对选定的位点进行基因分型检测，比较两组的基因频率、基因型分布。通过遗传模型分析基因多态性与AAV发病风险的关系，并结合AAV组临床数据进行对比分析。结果 两组间rs4845856位点基因型频率和等位基因频率分布差异无统计学意义（P>0.05）。对于女性亚群，在共显性模型［OR（95%CI）：0.11（0.01～0.86），P=0.005］和隐性模型［OR（95%CI）：0.09（0.01～0.75），P=0.003］中，TT基因型与AAV易感性表现出强关联性，为AAV发病的保护因素。对于汉族亚群，在隐性模型［OR（95%CI）：0.29（0.08～1.05），P=0.038］中，TT基因型与AAV易感性同样存在关联。蛋白酶3（PR3）、髓过氧化物酶（MPO）与rs4845856位点SNP各基因型存在关联（P<0.05）。AAV组中rs4845856位点SNP各基因型与病理分型无关联（P>0.05）。结论 mTOR基因rs4845856位点SNP可能与广西人群AAV的遗传易感性相关，TT基因型可能是女性亚群重要的保护因素。 |
| 关键词: 哺乳动物雷帕霉素靶蛋白 抗中性粒细胞胞浆抗体相关性血管炎 自噬 单核苷酸多态性 广西 |
| DOI：10.3969/j.issn.1674-3806.2024.08.04 |
| 分类号: |
| 基金项目:国家自然科学基金项目（编号：81360117）；广西自然科学基金项目（编号：2018GXNSFAA281122） |
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| The association between mTOR gene polymorphism and antineutrophil cytoplasmic antibody-associated vasculitis in a population of Guangxi |
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SU Shan1, XUE Chao2, QIU Chenggao1
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1.Department of Nephrology, Wuzhou Gongren Hospital, Guangxi 543001, China; 2.Department of Nephrology, the Second Affiliated Hospital of Guangxi Medical University, Nanning 530007, China
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| Abstract: |
| ［Abstract］ Objective To explore the association between single-nucleotide polymorphism(SNP) of rs4845856 locus in mammalian target of rapamycin(mTOR) gene and antineutrophil cytoplasmic antibody(ANCA)-associated vasculitis(AAV) in a population of Guangxi. Methods A total of 212 outpatients who were made a definite diagnosis with AAV in the Second Affiliated Hospital of Guangxi Medical University and Wuzhou Gongren Hospital from 2005 to 2022 were included as AAV group and 208 healthy examinees were selected as control group during the same period. Multiple polymerase chain reaction combined with high-throughput sequencing were employed to perform genotyping detection on the selected loci. The gene frequency and genotype distribution were compared between the two groups. The relationship between gene polymorphism and the risk of the occurrence of AAV was analyzed through genetic modeling, and a comparative analysis was conducted based on the clinical data of the AAV group. Results There was no significant difference in genotype frequency and allele frequency distribution of rs4845856 locus between the two groups(P>0.05). For the female subgroup, in the co-dominant model［OR(95%CI): 0.11(0.01-0.86), P=0.005］ and the recessive model［OR(95%CI): 0.09(0.01-0.75), P=0.003］, the TT genotype showed a strong association with AAV susceptibility and was considered as a protective factor for the occurrence of AAV. For the Han nationality subgroup, there was also an association between TT genotype and AAV susceptibility in the recessive model［OR(95%CI): 0.29(0.08-1.05), P=0.038］. Proteinase 3(PR3) and myeloperoxidase(MPO) were associated with various genotypes of SNP of rs4845856 locus(P<0.05). In the AAV group, there were no associations between the genotypes of SNP of rs4845856 locus and the pathological types(P>0.05). Conclusion The SNP of rs4845856 locus in mTOR gene might be associated with genetic susceptibility to AAV in the population of Guangxi. The TT genotype may be an important protective factor in the female subpopulation. |
| Key words: Mammalian target of rapamycin(mTOR) Antineutrophil cytoplasmic antibody(ANCA)-associated vasculitis(AAV) Autophagy Single-nucleotide polymorphism(SNP) Guangxi |
