Relationship Between AKT2 Rs3730051 And AKT2 Rs969531 Gene Polymorphisms And ANCA Associated Vasculitis In Guangxi Population

Objective:The significance of AKT2 gene single nucleotide polymorphism in primary Anti-neutrophil Cytoplasmic Antibody(ANCA)associated Vasculitis(AAV)has not been studied.The purpose of this study was to explore the relationship between AKT2 rs3730051 and AKT2 rs969531 gene polymorphism and ANCA-associated vasculitis in Guangxi population.Methods:The case-control study was conducted.A total of 215 Guangxi patients who were admitted to the Second Affiliated Hospital of Guangxi Medical University from January 2005 to December 2018 and met AAV diagnostic criteria were included in the case group.At the same time to collect sex and age matched healthy people 201 cases in Guangxi as control group.The DNA of all the cases were extracted from whole blood.The multiple polymerase chain reaction combined with high throughput sequencing method was used for genotyping in the case group and control group.The differences in the distribution of genotype and allele,as well as the common haplotypes between the case group and the control group were analyzed.The clinical symptom data and laboratory examination data of the case group were compared and analyzed among different genotypes.Results:There were no significant differences in genotype and allele frequency of AKT2 rs3730051,AKT2 rs969531 in the case group and the control group(P>0.05).Two SNPs exist strong linkage disequilibrium(D=0.986,r~2=0.759).The two sites can build three common haplotypes,but there were no significant differences among the haplotypes distribution frequency between the AAV group and the control group(P>0.05).The weight loss symptom of AAV group was significant different in AKT2 rs3730051 genotype(P<0.05).Logistic regression analysis showed that the risk of weight loss symptoms with TT genotype was higher than CC+TC genotype(OR=3.043,95%CI=1.43,6.45,P=0.003).The amount of leukocyte at AKT2 rs3730051 in each genotype of AAV patients was statistically significant(P<0.05).Conclusions:AKT2 rs3730051 and AKT2 rs969531 gene polymorphisms are common in Guangxi population,but they are not related to AAV susceptibility in Guangxi population.There is a strong linkage disequilibrium between the two SNPs.AKT2 rs3730051 is related to the weight loss symptom of AAV patients,and affects the amount of leukocyte in AAV patients.