天津医药

天津医药 ›› 2020, Vol. 48 ›› Issue (6): 504-511.

• 细胞与分子生物学 • 上一篇    下一篇

广西人群自噬相关基因ATG5的单核苷酸多态性与 ANCA相关性血管炎的关系

何佩耕，薛超△，黎伟，黄莉，彭茜，饶金兰，李慧佳
  

  1. 广西医科大学第二附属医院肾内科（邮编 530001）
  • 收稿日期:2019-09-19 修回日期:2020-04-07 出版日期:2020-06-15 发布日期:2020-06-15
  • 通讯作者: 何佩耕 E-mail:colxh7@163.com
  • 基金资助:
    国家自然科学基金;广西自然科学基金

The ralationship between autophagy related gene ATG5 polymorphisms with ANCA-associated vasculitis in Guangxi population

HE Pei-geng, XUE Chao△, LI Wei, HUANG Li, PENG Qian, RAO Jin-lan, LI Hui-jia #br#   

  1. Department of Nephrology, the Second Affiliated Hospital of Guangxi Medical University, Nanning 530001, China
    △
  • Received:2019-09-19 Revised:2020-04-07 Published:2020-06-15 Online:2020-06-15
  • Contact: Pei-geng HE E-mail:colxh7@163.com

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摘要： 摘要：目的 探讨 ATG5 基因 10 个位点的单核苷酸多态性（SNP）与广西人群原发性中性粒细胞胞浆抗体 （ANCA）相关性血管炎（AAV）的关系。方法 收集符合AAV入组标准的177例患者（AAV组）和216例年龄、性别相 匹配的健康人（对照组）作为研究对象，采用多重聚合酶链反应结合高通量测序法对选定的SNP进行基因分型检测。 分析各SNP基因型与等位基因以及其构成的常见单体型在2组人群中的分布差异，并结合基因型对AAV组进行临 床资料分析。结果 （1）纳入研究的 10 个 SNP 位点分别是 rs617994、rs1766193、rs656994、rs148316514、rs573775、 rs662114、rs510432、rs506027、rs3761796、rs473543。AAV组与对照组的等位基因频率和基因型频率差异无统计学意 义（P＞0.05）。（2）10个SNP位点在研究对象中存在6个常见单体型，在AAV组和对照组中的频率差异均无统计学意 义（P＞0.05）。（3）AAV 组中 rs1766193、rs148316514 各基因型的水肿发生率，rs1766193 各基因型的发热发生率， rs617994 各基因型的血清白蛋白水平，rs510432、rs506027、rs473543 各基因型的血清白蛋白及红细胞沉降率， rs656994的各基因型中血肌酐水平差异均有统计学意义（P＜0.05）。结论 本研究中10个ATG5基因SNP位点多态 性可能与广西人群AAV遗传易感性无关，但部分可能与AAV患者的发热和水肿发生率，血清白蛋白、红细胞沉降率 和血肌酐水平存在关联。

关键词: 自噬相关蛋白质5, 抗中性粒细胞胞浆抗体相关性血管炎, 自噬, 多态性, 单核苷酸

Abstract: Abstract: Objective To investigate the relationship between 10 single nucleotide polymorphism (SNP) in ATG5 gene with ANCA-associated vasculitis (AAV) in Guangxi population. Methods A total of 177 patients with AAV (AAV group) and 216 age-and gender-matched healthy volunteers (control group) from Guangxi population were included. Genotyping of selected SNPs was performed by multiplex PCR combined with next-generation sequencing. The differences in the distribution of each SNP genotype and allele were analyzed in two groups, as well as the common haplotypes constituted by them. Moreover, clinical data of the AAV group were analyzed. Results (1) There were no significant differences in allele frequency and genotype frequency between AAV group and control group (P＞0.05). The 10 SNP loci included in the study were rs617994, rs1766193, rs656994, rs148316514, rs573775, rs662114, rs510432, rs506027, rs3761796 and rs473543. (2) There were 6 haplotypes at 10 SNPs mentioned above, and there was no significant difference in frequency between AAV and control groups (P＞0.05). (3) In the AAV group, there were significant differences in the incidence of edema between all genotypes of rs148316514 and rs1766193; in the incidence of fever between all genotypes of rs1766193. There were significant differences in the serum albumin levels between all genotypes of rs617994. Besides, there were significant differences in serum albumin and erythrocyte sedimentation rate (ESR) between all genotypes of rs510432, rs506027, rs473543. There was significant difference in the serum creatinine level between all genotypes of rs656994 (P＜0.05). Conclusion In the study, 10 SNPs of the ATG5 are not associated with ANCA-associated vasculitis in Guangxi population, but some of them may be related with incidences of fever, edema, serum albumin, ESR and serum creatinine.

Key words: autophagy-related protein 5, anti-neutrophil cytoplasmic antibody-associated vasculitis, autophagy,
polymorphism, single nucleotide