The Association Between IRAKM Gene Polymorphism And ANCA Associated Vasculitis

Objective: To analysis the correlation between the gene polymorphism of interleukin receptor-1 related kinase-M(IRAKM)and ANCA-associated vasculitis(AAV).Methods: Retrospective analysis was performed on 121 cases of AAV patients who diagnosed in the First Affiliated Hospital of Guangxi Medical University.The gene polymorphism of IRAKM in 121 patients and 216 controls were analysis by PCR-RFLP,clinical data and biochemical index of the AAV patients with different genotype were also compared.Results: 1.The average age of 121 AAV patients was 50.84±15.12 years old,and the peak age of onset was 65~74 years old(42.05%).88 patients(72.8%)were MPO-ANCA positive,16 patients(13.2%)were PR3-ANCA positive,and 17 patients(14.0%)were double negative.Renal and lung were involved in most patients with the percentages of 83.4% and 73.6%,respectively.41 biopsy specimens were assigned to 4 classes: 15(36.6%)as focal,4(9.8%)as crescentic,9(22.0%)as sclerotic,and 13(31.7%)as mixed class.2.The gene polymorphism of IRAKM:(1)The genotypic frequency of IRAKM rs1152888 in the AAV patients was 20.7% for AA,51.2% for AG,and 28.1% for GG,whereas the corresponding percentage in the controls was 23.6% for AA,48.2% for AG,and 28.2% for GG.The allelic frequency was 46.3% for A and 53.7% for G in the AAV patients,47.7% for A and 55.3% for G in the controls.There were no statistically differences in either genotype distribution or allelic frequencies between the AAV patients and the controls(P>0.05).Significant increased in cholesterol was found in AA genotype than the other two genotypes(P<0.05).(2)The genotypic frequency of IRAKM rs1370128 in the AAV patients was 28.1% for TT,57.0% for TC,and 14.9% for CC,whereas the corresponding percentage in the controls was 32.9% for TT,45.4% for TC,and 21.7% for CC.The allelic frequency was 56.6% for T and 43.4% for C in the AAV patients,55.6% for T and 44.4% for C in the controls.No genotype distribution and allelic frequency differences was observed between AAV patients and the controls(P>0.05).Significant decreased in incidence of edema,24-hour urine protein was found in CC genotype than the other two genotypes(P<0.05).Significant increased in serum albumin and decreased in ESR was found in CC genotype than TC genotype.Significant decreased was found in C3 complement in TT genotype than TC genotype(P<0.05).Conclusion: 1.the peak age of onset of AAV patients was 55~70 years old,with MPO-ANCA positive.Renal and lung involvement were the most common manifestations,and focal class was the major pathology type.2.No correlation was found in the polymorphisms of IRAKM rs1152888,rs1370128 and susceptibility of AAV in Guangxi Han population.3.IRAKM rs1152888 gene polymorphism may be associated with cholesterol in AAV patients.4.IRAKM rs 1370128 gene polymorphism may be associated with edema,urine protein,serum albumin,ESR and serum C3 complement in AAV patients.