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