Abstract
Systemic lupus erythematosus (SLE) is a prototypic autoimmune disease with complex genetic inheritance. Recently, single-nucleotide polymorphisms (SNPs) in tumor necrosis factor (TNF) superfamily gene TNFSF4 have been shown to be associated with SLE in European and Hong Kong Chinese populations. But it is unknown whether it is also associated with the disease in Mainland Chinese Han population. We genotyped the SNPs rs1234315 near the TNFSF4 gene in 1,344 SLE patients and 4,315 controls of Chinese Han population and confirmed the association between the SNP and the SLE [odds ratios (ORs) of 1.45 and P values of 1.5 × 10−16]. The stratification analyses showed that rs1234315 was more strongly associated with SLE patients with arthritis. Our study not only suggested that the TNFSF4 gene was associated with SLE in Chinese Han population, but also implied that it might be a common genetic factor predisposing to the development of SLE in multiple populations.
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References
International Consortium for Systemic Lupus Erythematosus Genetics (SLEGEN), Harley JB, Alarcón-Riquelme ME, Criswell LA, Jacob CO, Kimberly RP et al (2008) Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. Nat Genet 40:204–210
Tikly M, Navarra SV (2008) Lupus in the developing world––is it any different? Best Pract Res Clin Rheumatol 22:643–655
Criswell LA (2008) The genetic contribution to systemic lupus erythematosus. Bull NYU Hosp Jt Dis 66:176–183
Crow MK (2008) Collaboration, genetic associations, and lupus erythematosus. N Engl J Med 358:956–961
Deapen D, Escalante A, Weinrib L, Horwitz D, Bachman B, Roy-Burman P (1992) A revised estimate of twin concordance in systemic lupus erythematosus. Arthritis Rheum 35:311–318
Hom G, Graham RR, Modrek B, Taylor KE, Ortmann W, Garnier S (2008) Association of systemic lupus erythematosus with C8orf13–BLK and ITGAM–ITGAX. N Engl J Med 358:900–909
Moser KL, Kelly JA, Lessard CJ, Harley JB (2009) Recent insights into the genetic basis of systemic lupus erythematosus. Genes Immun 10(5):373–379
Rhodes B, Vyse TJ (2008) The genetics of SLE: an update in the light of genome-wide association studies. Rheumatology (Oxford) 47:1603–1611
Harley IT, Kaufman KM, Langefeld CD, Harley JB, Kelly JA (2009) Genetic susceptibility to SLE: new insights from fine mapping and genome-wide association studies. Nat Rev Genet 10:285–290
Cunninghame Graham DS, Graham RR, Manku H, Wong AK, Whittaker JC, Gaffney PM, Moser KL, Rioux JD (2009) Polymorphism at the TNF superfamily gene TNFSF4 confers susceptibility to systemic lupus erythematosus. Nat Genet 40:83–89
Croft M (2009) The role of TNF superfamily members in T-cell function and diseases. Nat Rev Immunol 9:271–285
Ito T, Wang YH, Duramad O, Hanabuchi S, Perng OA, Gilliet M et al (2006) OX40 ligand shuts down IL-10-producing regulatory T cells. Proc Natl Acad Sci USA 103:13138–13143
Lane P (2000) Role of OX40 signals in coordinating CD4T cell selection, migration, and cytokine differentiation in T helper (Th)1 and Th2 cells. J Exp Med 191:201–206
Lettre G, Rioux JD (2008) Autoimmune diseases: insights from genome-wide association studies. Hum Mol Genet 17(R2):R116–R121
Chang YK, Yang W, Zhao M, Mok CC, Chan TM, Wong RW, Lee KW, Mok MY, Wong SN, Ng IO, Lee TL, Ho MH, Lee PP, Wong WH, Lau CS, Sham PC, Lau YL (2009) Association of BANK1 and TNFSF4 with systemic lupus erythematosus in Hong Kong Chinese. Genes Immun 10:414–420
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We thank all the participants of this study, which was supported by the Key Project of National Natural Science Foundation (nos 30530670 and 30830089).
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The authors declared no competing financial interests.
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Zhang, SQ., Han, JW., Sun, LD. et al. A single-nucleotide polymorphism of the TNFSF4 gene is associated with systemic lupus erythematosus in Chinese Han population. Rheumatol Int 31, 227–231 (2011). https://doi.org/10.1007/s00296-009-1247-2
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DOI: https://doi.org/10.1007/s00296-009-1247-2