|
[Abstract background with systemic lupus erythematosus (SLE) is an immune tolerance disorder, is characterized by a variety of autoantibodies, multiple organ system involvement in autoimmune diseases. Lupus nephritis (LN) is one of the more common and serious complication of SLE. The pathogenesis of SLE is the result of the interaction of genetic and environmental factors, complement play an important role in the activation of the inflammatory response and immune complexes Clear. Clq is the main component of the classic complement activation pathway, the Clq gene variant may trigger the immune system disorders and autoimmune processes. IKZF1 is a the hematopoietic specific zinc finger protein whose function is the regulation of immune cell differentiation and proliferation. IKZF1 knockout mice showed T cells, B cells, developmental disorders. Correlation for IKZF1 with SLE. The purpose of this paper study Chinese Han population C1qA (rs172378, rs665691) and IKZF1 (rs4917014) single nucleotide polymorphisms (single nucleotide polymerphism, SNP), and its correlation with SLE, LN and clinical manifestations, serological markers . Collected Chinese Han population of SLE patients 748 cases (456 cases) in patients with LN and healthy conducted a case-control study in 750 cases, MALDI-TOF MS detection of single nucleotide polymorphisms of candidate genes. Results Chinese Han population in SLE patients compared with healthy subjects, C1qA (rs172378, rs665691) allele, genotype and haplotype frequency differences were not statistically significant (P gt; 0.05) in different genetic models (plus , dominant, recessive), the female population, and other clinical manifestations, serological indicators grouped comparison also found no significant difference (P gt; 0.05). LN patients C1qA (rs172378) allele frequencies between anti-Sm antibodies and antibody-negative patients have a statistically significant difference (p = 0.046, OR = 1.43, 95% CI = 1.01-2.03), but this difference is not significant. IKZF1 rs4917014 polymorphism analysis of various gene types are associated with SLE, but did not find in SLE layered comparison of the clinical manifestations and serological markers IKZF1 correlation. IKZF1 (rs4917014) T allele of SLE risk factors (P lt; 0.01, OR = 1.47, 95% CI = 1.25-1.73), and the frequency of the T allele in SLE patients and healthy people and 74.8%, respectively and 67.0%, respectively. Conclusion C1qA (rs172378, rs665691) than China Han population SLE and LN, susceptibility genes; This study confirms IKZF1 (rs4917014) single nucleotide polymorphism is associated with the Chinese Han population SLE, but it is not LN or other clinical manifestations risk factors.
|