1. A single-nucleotide polymorphism of the TNFAIP3 gene is associated with systemic lupus erythematosus in Chinese Han population
- Author
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Wen-sheng Lu, Jian-Wen Han, Liangdan Sun, Shumei Zhang, Wen-Hui Du, Zaixing Wang, Xian-Bo Zuo, Sen Yang, Xuejun Zhang, and Li-Qiong Cai
- Subjects
Adult ,Male ,Systemic disease ,China ,Single-nucleotide polymorphism ,Polymorphism, Single Nucleotide ,Asian People ,Gene Frequency ,immune system diseases ,Polymorphism (computer science) ,Genetics ,medicine ,Ethnicity ,SNP ,Humans ,Lupus Erythematosus, Systemic ,Genetic Predisposition to Disease ,skin and connective tissue diseases ,Molecular Biology ,Allele frequency ,Tumor Necrosis Factor alpha-Induced Protein 3 ,Genetic association ,Lupus erythematosus ,business.industry ,Case-control study ,Intracellular Signaling Peptides and Proteins ,Nuclear Proteins ,General Medicine ,medicine.disease ,DNA-Binding Proteins ,Gene Expression Regulation ,Case-Control Studies ,Immunology ,Leukocytes, Mononuclear ,Female ,business - Abstract
Systemic lupus erythematosus (SLE) is a complex systemic disease influenced by genetic and environmental factors. The exact pathogenesis of SLE is still unknown. Recently, several genome-wide association studies (GWA) in European population have found many novel susceptibility genes for SLE including TNFAIP3. In order to examine whether TNFAIP3 is associated with SLE in Chinese Han population, we genotyped one of its non-synonymous mutation SNP rs2230926, showing significant association evidence with SLE in European population, with 1,420 cases and 4,461 controls of Chinese Han by using Sequenom MassArray system. Highly significant association between SNP rs2230926 and SLE of Chinese Han was detected [OR = 1.65, 95% confidence interval (CI): 1.392-1.986, P = 2.03 x 10(-8)]. Interestingly, rs2230926 of TNFAIP3 was also associated with arthritis, ANA and some other subphenotypes of the disease. Our findings suggest that SNP rs2230926 in the TNFAIP3 might be a common genetic factor for SLE within different populations in terms of Chinese Han and European population.
- Published
- 2009