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Background: Systemic Lupus Erythematosus (Systemic Lupus Erythematosus, SLE) is a typical autoimmune disease, a large number of autoantibodies, complement activation and immune complex deposition as the main feature, leading to tissue and organ damage. The etiology and pathogenesis of SLE is not yet fully understood, a large number of studies have demonstrated SLE have a close relationship with genetic, familial aggregation phenomena such as SLE, a higher incidence of first-degree relatives of patients with the disease. Prevalence of SLE in monozygotic twins concordance rate of 24%, while only 2% of dizygotic twins. Currently considered disease are polygenic disease, genetic factors and environmental factors involved in the occurrence of this disease, the development process. Genetic factors play an important role in the pathogenesis of SLE, the growing body of research began to pay attention to the relevance of the genetic polymorphism and systemic lupus erythematosus. In order to better treatment and control of systemic lupus erythematosus, it is necessary to further elucidate the etiology and pathogenesis of SLE. Genome-wide scan and candidate gene study found, TNIP1 SLE a new susceptibility genes. The initial studies have shown that, TNIP1 through a combination of zinc finger protein A20 play an important role in the regulation of the NF-κB signaling pathway. Found, TNIP1 the overexpression conditions can inhibit tumor necrosis factor, interleukin-1, lipopolysaccharide, epidermal growth factor-induced NF-κB activity, and thus play an anti-inflammatory and immunomodulatory effects. Currently reported TNIP1 genes related to autoimmune diseases: systemic lupus erythematosus, psoriasis, rheumatoid arthritis. This article aims Research TNIP1 gene polymorphism with SLE correlation proved TNIP1 genes involved in SLE provide more experimental evidence to reveal the pathogenesis of SLE. Objective: This issue through the analysis of the Yunnan Han patients with systemic lupus erythematosus TNIP1 single nucleotide polymorphism (single nucleotide polymerphism, SNP), explore the TNIP1 gene and Yunnan Han systemic lupus erythematosus. Method: 1, the selection of cases and specimen collection: Refer to the American College of Rheumatology (ACR) 1997 revised diagnostic criteria for SLE, randomly selected from January 1998 to December 2008, diagnosed SLE patients hospitalized Yunnan Han 465 cases; normally 501 cases are patients of the control group unrelated outpatient physical examination normal crowd. 2, 3 SNP loci amplified by PCR and the specimens TNIP1 gene. 3 SNaPshot technology the detection TNIP1 gene 3 SNP loci. 4 row case - control analysis to further determine the relationship between the three SNPs with different clinical phenotypes. Results: 1.TNIP1 gene SNP rs7708392 G allele frequency distribution in the SLE group below the healthy control group, a statistically significant (P = .02642, OR = 0.7838) between the two; 2.rs10036748 and rs13168551 butterfly locus alleles between the case group and the control was not statistically significant (P = 0.0965 OR = 0.832, P = 0.1588 OR = 0.8573); 3. cases stratified group of cases SNP rs7708392 G allele frequency distribution between erythema, lupus nephritis, immunological abnormalities, antinuclear antibodies and control group were statistically significant. Butterfly rash / control (P = 0.03148, OR = 0.7563), lupus nephritis / control (P = 0.04284, OR = 0.7523), immunological abnormalities / control (P = 0.03399, OR = 0.7611), antinuclear antibody / control ( P = 0.01675, OR = 0.7503); the Yunnan Han TNIP1 gene SNP rs7708392 G allele frequency point in the patient group was 21.5%, and the normal control group is 25.9%, the normal population of Europe in the HapMap database rs7708392 locus G allele frequency was 79.2%. Conclusion: 1. TNIP1 gene may Yunnan Han population systemic lupus erythematosus susceptibility genes. 2.TNIP1 gene SNP rs7708392 G allele may Yunnan Han population systemic lupus erythematosus protective allele. The G allele of 3.TNIP1 gene SNPrs7708392 and Yunnan Han population systemic lupus butterfly rash, lupus nephritis, immunological abnormalities, antinuclear antibody four clinical phenotype correlation. SNP rs7708392 of Yunnan Han people TNIP1 gene loci G allele frequency and European populations, there is a clear racial differences.
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