Analysis of rs1864182 and rs1864183 variants in ATG10 gene and antineutrophil cytoplasmic autoantibody-associated vasculitis in Chinese Guangxi population

Abstract

Objectives: To investigate the association of autophagy-associated gene 10 (ATG10) gene polymorphisms (rs1864182 and rs1864183) with antineutrophil cytoplasmic autoantibody (ANCA)-associated vasculitis (AAV) in Chinese Guangxi population.

Methods: The single nucleotide polymorphisms (SNPs) of ATG10 rs1864182 and rs1864183 in 395 participants (195 AAVs and 200 healthy controls) were genotyped. Generalized multiple dimensionality reduction (GMDR) was used to analyze the SNP-SNP interactions among two SNPs of ATG10 gene and other SNPs of autophagy gene previously studied by our research team.

Results: In this study, we found that the two ATG10 SNPs were not associated with AAV risk in Chinese Guangxi population. However, there were statistically significant differences in the incidence of hemoptysis, hematuria, and proteinuria among the three genotypes of ATG10 rs1864182 and rs1864183 (p < 0.05). Moreover, permutation test of GMDR suggested that immunity-related GTPase M(IRGM) rs4958847, autophagy-associated gene 7 (ATG7) rs6442260, ATG7 rs2594966, ATG10 rs1864183, protein kinase B(AKT2) rs3730051, and AKT2 rs11552192 might interact with each other in the process of developing AAV (p < 0.05).

Conclusions: Our results indicated that there existed no association between ATG10 SNPs and AAV, and SNP-SNP interactions among IRGM rs4958847, ATG7 rs6442260, ATG7 rs2594966, ATG10 rs1864183, AKT2 rs3730051, and AKT2 rs11552192 may confer AAV risk in the Chinese Guangxi population.

Keywords: GMDR; antineutrophil cytoplasmic antibody-associated vasculitis; autophagy-related protein 10; interaction; polymorphism.