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Replicated associations of TNFAIP3, TNIP1 and ETS1 with systemic lupus erythematosus in a southwestern Chinese population

Replicated associations of TNFAIP3, TNIP1 and ETS1 with systemic lupus erythematosus in a southwestern Chinese population
Abstract Introduction Recent genome-wide and candidate gene association studies in large numbers of systemic lupus erythematosus (SLE) patients have suggested approximately 30 susceptibility genes. These genes are involved in three types of biological processes, including immune complex processing, toll-like receptor function and type I interferon production, and immune signal transduction in lymphocytes, and they may contribute to the pathogenesis of SLE. To better understand the genetic risk factors of SLE, we investigated the associations of seven SLE susceptibility genes in a Chinese population, including FCGR3A, FCGR2A, TNFAIP3, TLR9, TREX1, ETS1 and TNIP1. Methods A total of 20 SNPs spanning the seven SLE susceptibility genes were genotyped in a sample of 564 unrelated SLE patients and 504 unrelated healthy controls recruited from Yunnan, southwestern China. The associations of SNPs with SLE were assessed by statistical analysis. Results Five SNPs in two genes (TNFAIP3 and ETS1) were significantly associated with SLE (corrected P values ranging from 0.03 to 5.5 × 10-7). Through stratified analysis, TNFAIP3 and ETS1 showed significant associations with multiple SLE subphenotypes (such as malar rash, arthritis, hematologic disorder and antinuclear antibody) while TNIP1 just showed relatively weak association with onset age. The associations of the SNPs in the other four genes were not replicated. Conclusions The replication analysis indicates that TNFAIP3, ETS1 and TNIP1 are probably common susceptibility genes for SLE in Chinese populations, and they may contribute to the pathogenesis of multiple SLE subphenotypes.
- Yan'an Hospital Affiliated To Kunming Medical University China (People's Republic of)
- Kunming Institute of Zoology China (People's Republic of)
- Chinese Academy of Sciences (中国科学院) China (People's Republic of)
- Kunming Medical University China (People's Republic of)
- Chinese Academy of Science (中国科学院) China (People's Republic of)
Adult, Male, China, Genotype, Immunology, Polymorphism, Single Nucleotide, Linkage Disequilibrium, Proto-Oncogene Protein c-ets-1, Young Adult, Rheumatology, Asian People, Gene Frequency, Immunology and Allergy, Humans, Lupus Erythematosus, Systemic, Genetic Predisposition to Disease, Tumor Necrosis Factor alpha-Induced Protein 3, Intracellular Signaling Peptides and Proteins, Nuclear Proteins, Middle Aged, DNA-Binding Proteins, Phenotype, Female, Research Article
Adult, Male, China, Genotype, Immunology, Polymorphism, Single Nucleotide, Linkage Disequilibrium, Proto-Oncogene Protein c-ets-1, Young Adult, Rheumatology, Asian People, Gene Frequency, Immunology and Allergy, Humans, Lupus Erythematosus, Systemic, Genetic Predisposition to Disease, Tumor Necrosis Factor alpha-Induced Protein 3, Intracellular Signaling Peptides and Proteins, Nuclear Proteins, Middle Aged, DNA-Binding Proteins, Phenotype, Female, Research Article
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