The association between mTOR gene polymorphism and antineutrophil cytoplasmic antibody-associated vasculitis in a population of Guangxi
SU Shan
XUE Chao
QIU Chenggao
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 relation-ship 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 differ-ence 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.
Keywords：Mammalian target of rapamycin(mTOR)Antineutrophil cytoplasmic antibody(ANCA)-associated vasculitis(AAV)AutophagySingle-nucleotide polymorphism(SNP)Guangxi
Publication Date：2024-08-28
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：6( 860-865 )