Gene polymorphisms in and are associated with the risk of microscopic polyangiitis in the Guangxi Zhuang Autonomous Region in China.

BACKGROUND

Microscopic polyangiitis (MPA) is a systemic autoimmune disease characterized by inflammation of small- and medium-sized blood vessels. Autophagy-related protein polymorphisms are involved in autoimmune disease. The aim of this study was to evaluate the effects of single-nucleotide polymorphisms (SNPs) in the and genes on the risk of MPA.

METHOD

A total of 208 patients with MPA and 211 controls in the Guangxi Zhuang Autonomous Region were recruited and analyzed. The SNPs selected were detected by polymerase chain reaction and high-throughput sequencing. The differences in allele and genotype frequency, various genetic models, and stratification analyses were evaluated, haplotype evaluation was performed after linkage disequilibrium analysis, and the interaction between gene alleles was analyzed.

RESULTS

A statistically significant difference was detected in the genotypic distribution of two SNPs between the two groups: rs4964879 ( = 0.019) and rs1607237 ( = 0.002). The results of the genetic models revealed that rs4964879 and rs9481 were statistically significantly associated with an increased risk of MPA, whereas rs1607237 was associated with a reduced risk. The association between SNPs and MPA risk was affected by age, sex, and ethnicity. The haplotype (G-T-A-C-G-A) and haplotype (T-G) were associated with a reduced risk of MPA, while the haplotype (C-G) was associated with an increased risk.

CONCLUSION

In this study, polymorphisms in the autophagy-related genes and and their association with MPA were examined. The results showed that the polymorphisms in (rs4964879 and rs9481) and (rs1607237) were significantly associated with MPA risk in the Guangxi population. However, the molecular mechanisms are still unclear; basic science research and studies with larger samples are needed to confirm our conclusions and explore the underlying mechanisms.