Association Study Of IRF8Gene Polymorphism And Systemic Lupus Erythematosus In Chinese Han Population

Background Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease characterized by hyperactive T and B cells, auto-antibody production, and immune complex (IC) deposition. SLE affects predominantly women, the female-to-male ratio is7-9:1, and is characterized by variable clinical features, including malar rash, glomerulonephritis, arthritis, and neuropsychiatric disease. Although the exact etiology of lupus is not fully understood, accumulating clinical and laboratorial evidence suggests that SLE as a quintessential multifactorial disease, resulting from numerous interactions between multiple genetic variants,along with environmental or non-genetic factors such as diet, stress, and medical treatment. Accumulating epidemic investigation evidence show that SLE have large hereditary basis. A strong genetic link has been identified through the use of association and family studies. To date, genome-wide association studies (GWASs) have identified more than40associated loci in one or more GWASs, a meta-analysis, or replication studies. Our previous study found and confirmed sixteen susceptibility genes loci for SLE, such as TNIP1, TNFAIP3, ETS1, etc. In recent years, a large number of studies have shown that interferon regulatory factor family(IRFs) is an important factor of the pathogenesis of SLE.researchers in Europe and America found a distinguished correlation of IRF8gene with SLE in European and American Population by SLE genome-wide association study (GWAS).The importance of replication in different population is necessary.Objective We have performed a large scale replication study based on the result of SLE in the American and European population. The SNP(rs2934498)of IRF8from GWAS data were selected in Chinese Han population (total3255cases and3413controls). To confirm the genetic variation for susceptibility in Chinese Han population.Methods The study genotypcd SNP rs2934498in3255SLE patients of Chinese Han and3413controls subjects by using Sequenom Massarray system. Data were analyzed with PLINK1.07software and SPSS13.0.Results1.There was a statistical difference of SNP rs2934498in IRF8between cases and controls of Chinese Han population (P=4.97×10-9OR=1.25).2.Cases-only stratified analysis in this study did not produce any significant difference between rs2934498and clinical phenotypes(p>0.05)Conclusions1.The polymorphism of IRF8is associated with the susceptibility of Systemic Lupus Erythematosus in the Chinese Han population.2.The polymorphism of IRF8(rs2934438) is not associated with clinical phenotypes of Systemic Lupus Erythematosus in the Chinese Han population.