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Background: Systemic lupus erythematosus (systemic lupus erythematosus, SLE) is a variety of autoantibodies and secondary immune complex deposition characteristics of systemic autoimmune diseases, the complexity of the etiology of this disease by genetic, environmental, hormonal, etc. factors impact. In recent years numerous studies have confirmed that genetic factors play a decisive role in disease susceptibility and clinical phenotype. SLE is a polygenic disease, showing non-Mendelian inheritance pattern, there is a strong racial differences and genetic heterogeneity. At home and abroad in recent years a large number of studies have identified 30 susceptibility genes, the large sample GWAS study has also found five closely associated with the Han population incidence of new susceptibility genes IKZF1 RASGRP3 ETS1 SLC15A4 and TNIP1. Objective: In this study, by using SNaPshot multiplex sequencing method study the ETS1 gene polymorphism with Yunnan Han population SLE susceptibility and clinical phenotype correlation, to further clarify the systemic lupus erythematosus pathogenesis. Methods: 565 cases of SLE patients (4 are in line with the 1982 ACR 11 diagnostic criteria above), the Han Chinese are living within three generations of the Yunnan region; same nation with 501 cases of normal controls. Amplified by PCR and the ETS1 gene product; multiple SNaPshot technical detection rs4937333, rs6590330 SNP; Plink1.07 software data analysis. Results: 1 ETS1 gene rs4937333 T allele frequency distribution in the SLE group was significantly higher (p = 2.1 × 10-7), the the female SLE group was significantly higher than the female control group (p = 1.7 × 10-7 ); rs6590330 A allele frequency distribution in the SLE group was significantly higher (p = 4.6 × 10-8), the the female SLE group was significantly higher than the female control group (p = 5.0 × 10-8). 2.ETS1 gene rs4937333 TT homozygous genotype frequency distribution in the SLE group was significantly higher (p = 2.9 × 10-7), female SLE group was significantly higher than the female control group (p = 3.0 × 10-7) ; the ETS1 gene rs6590330 AA homozygous genotype frequency distribution in the SLE group was significantly higher (p = 4.3 × 10-8), the female SLE group was significantly higher than the female control group (p = 5.2 × 10-8). Two loci haplotypes the TA haplotype frequency of significantly higher in the SLE group distribution p = 1.9 × 10-7); the CG haplotype frequencies in the distribution of the SLE group was significantly lower than the control group (p = 7.6 × 10-8). 4 cases stratified the butterfly erythema in the case group, discoid erythema, light-sensitive, arthritis, serositis, lupus nephritis, hematologic abnormalities, immune disorders and anti-nuclear antibody positive control group between ETS1 gene T allele of rs4937333 SNP rs6590330 SNP A allele frequency distribution were statistically significant (p lt; 0.05): A allele of the rs6590330 SNP the butterfly erythema (p = 5.5 × 10 - 7), the light-sensitive (p = 0.0027), arthritis (p = 8.9 × 10-6), serosal inflammation (p = 6.1 × 104), lupus nephritis (p = 7.2 × 10-6), hematologic abnormalities (p = 2.3 × 10-7), immune disorders (p = 1.9 × 10-7) and antinuclear antibodies (p = 2.9x10-7); T allele of rs4937333 SNP, the butterfly erythema (p = 8.1 × 10-7), discoid erythema (p = .04465), light sensitivity (p = 9.4 × 10-5), arthritis (p = 4.7 × 10-6), serositis (p = 2.8 × 10 - 3), lupus nephritis (p = 5.9 × 10-6), hematologic abnormalities (p = 1.2 × 10-6) immune disorders (p = 2.1 × 10-7) and antinuclear antibody positive (p = 1.1 × 10 -6) Conclusion: 1.ETS1 gene rs4937333 and rs6590330 polymorphisms associated with SLE susceptibility Yunnan Han. 2.ETS1 gene rs4937333 SNP T allele and the rs6590330 SNP A allele increased butterfly erythema, photosensitivity, arthritis, serositis, lupus nephritis, hematological abnormalities, immune disorders and anti-nuclear antibody positive risk, wherein rs4937333 SNP T allele also increases the risk of the discoid erythema.
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