ETS1 And IKZF1 Are Associated With Clinical Features Of Systemic Lupus Erythematosus In Chinese Han Population

Background Systemic lupus erythematosus (SLE) is an autoimmune disease with heterogeneous clinical manifestations influenced by genetic and environmental factors. We have identified two novel susceptibility genes (ETS1 and IKZF1) for SLE in a recent genome-wide association study (GWAS) of Chinese Han population.Objective We investigated the two SNPs relationships with disease subphenotypes, including renal nephritis, photosensitivity, ANA, age at diagnosis, malar rash, discoid rash, immunological disorder, oral ulcer, hematological disorder, neurological disorder, serositis, arithritis and vasculitis in order to further explore the genetics pathogenesis and bring hope to develope new treatments of etiology.Methods 4199 unrelated cases and 8255 unrelated controls were involved in this study. Genotype data of rs4917014 and rs6590330 were obtained from the previous GWAS for SLE. The appropriate application of social science statistical software package PLINK1.03 was used for statistical analysis of data.Results 1 Age of onset greater than or equal 20 years of age and less than 20-year-old SLE patients with ETS1 gene SNP rs6590330 allele was statistically significant.2. There nephritis (OR = 1.13, P = 0.02) and discoid erythema (OR = 0.83, P = 0.00038) in patients with non-nephritis and in patients with discoid erythema between IKZF1 gene SNP rs4917014 allele was statistically significant .3. The allele frequency of rs6590330 and rs4917014 polymorphism within ETS1,IKZF1 gene were of statistical significance between the cases and the controls.Conclusions 1 The allele frequency of rs6590330 (ETS1) was significantly different between the early onset (<20y) and late onset cases (≥20y); 2 The allele frequency of rs4917014 (IKZF1) was significantly different in two subphenotypes: renal nephritis (OR = 1.13, 95% CI: 1.02-1.24, P = 0.02) and malar rash (OR = 0.83, 95% CI: 0.75-0.92, P =0.00038).3. rs6590330 of ETS1, rs4917014 of IKZF1 polymorphism associated with the susceptibility to SLE of Chinese Han population.