| [Backround] Systemic lupus erythematosus (SLE) is a prototypic systemic autoimmune disease characterized by a diverse array of autoantibody production, complement activation and immune complex deposition, causing tissue and organ damage. The exact etiology of SLE is unknown up to now. Great deals of data have shown that SLE represents strong familial aggregation, with a much higher frequency among first-degree relatives of patients. The concordance of the disease indentical twins is approximately 24%, and that in dizygotic twins is about 2%. At present, it is considered to be a polygenic disease that involves both genetic and environment factors in the onset and development of the disease. Genetic factor may play the critical role on it. Nowadays, more and more work is focused on the association between the genetic variations and SLE. In order to elevate the effectiveness of therapia and manipulation in SLE, it is necessary to elucidate the etiology and pathogenesis of SLE.TNIP1 (TNFAIP3-interacting protein 1), one of new susceptibility genes of SLE, has been found by both genome-wide scanning and candidate gene approach. Preliminary results showed that TNIP1 played an important regulatory role in NF-κB signaling path-way in combination with zinc finger protein. Recently, it was found that overexpression of TNIPl could inhibit activity of NF-κB induced by tumor necrosis factor, interleukin-1, lipopolysaccharide or epidermal growth factor, and then serve anti-inflammatory and immunomodulatory function. It has been reported that TNIP1 is associated with some immune-related diseases such as SLE, psoriasis and rheumatoid arthritis.The present study aims to explore the association between TNIP1 gene polymorphism and the pathogenesis of SLE. We hope to provide more experimental data to prove TNIP1 gene involvement in the development of SLE.[Objetive] This study intended to investigate the association of TNIP1 with SLE in Yunnan Han population by compare the single nucleotide polymorphisms of TNIP1 in SLE patients to healthy people.[Methods] Blood samples were collected from 465 Yunnan Han SLE patients and 501 matched controls. DNA was extracted from the peripheral blood mononuclear cells (PBMCs). Using the polymerase chain reaction to amplify 3 SNPs of TNIP1, and then were genotyped by SNaPshot method, moreover, we performed subphenotype-control analyses to examine the association of 3 SNPs with different subtypes of SLE.[Results] 1. There were significant differences in all el e frequencies of rs7708392 between SLE cases and normal controls (P=0.02642, OR=0.7838) in TNIP1 gene.2. There were no significant differences in allele frequencies of SNPs rs10036748, rsl3168551 in TNIP1 gene between SLE cases and normal controls (P=0.0965 OR=0.832, P=0.1588 OR=0.8573).3. The SLE patients were divide into subgroups, there were singnificient differences in G allele frequencies at the rs7708392 of malar rash, renal disorder, immunologic disorder, anti-nuclear antibody. G allele frequency distribution were statistically significant. Malar rash/control (P=0.03148, OR=0.7563); renal disorder/control (P=0.04284, OR=0.7523); immunologic disorder/control (P=0.0339, OR=0.7611); anti-nuclear antibody/control (P=0.01675, OR=0.7503); 4. TNIP1 gene SNP rs7708392 G allele frequency were 21.5% in SLE group in control group of Yunnan Han population, and 79.2% in European population of HapMap database, respectively.[Conlusion] 1. TNIP1 gene maybe a new susceptibility genes in Yunnan Han SLE.2. TNIP1 rs7708392 G might be a protective allele of Yunnan Han SLE.3. Rs7708392 of TNIP1 may be associated with malar rash, renal disorder, immunologic disorder, anti-nuclear antibody.4.There is signigicant racial difference in TNIP1 rs7708392 G allele frequency between Yunnan Han and European population.
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