Gene-gene interaction of BLK, TNFSF4, TRAF1, TNFAIP3, and REL in systemic lupus erythematosus

Arthritis and Rheumatism

Volumn 64, Issue 1, 2012, Pages 222-231

  Zhou, Xu Jie ^a   Lu, Xiao Lan ^b   Nath, Swapan K ^c   Lv, Ji Cheng ^a   Zhu, Sai Nan ^a   Yang, Hai Zhen ^a   Qin, Lian Xiang ^a   Zhao, Ming Hui ^a   Su, Yin ^b   Shen, Nan ^d   Li, Zhan Guo ^b   Zhang, Hong ^a  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

^b PEKING UNIVERSITY PEOPLE S HOSPITAL   (China)

^c OKLAHOMA MEDICAL RESEARCH FOUNDATION   (United States)

^d SHANGHAI JIAO TONG UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

I KAPPA B; OX40 LIGAND; PROTEIN TYROSINE KINASE; TRANSCRIPTION FACTOR REL; TUMOR NECROSIS FACTOR ALPHA; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED FACTOR 1;

ADULT; ARTICLE; B LYMPHOCYTE; CHINESE; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENE INTERACTION; GENE REPLICATION; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENOTYPE; HERITABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RISK FACTOR; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMIC LUPUS ERYTHEMATOSUS; T LYMPHOCYTE;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; EPISTASIS, GENETIC; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LUPUS ERYTHEMATOSUS, SYSTEMIC; MALE; NUCLEAR PROTEINS; OX40 LIGAND; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTO-ONCOGENE PROTEINS C-REL; SIGNAL TRANSDUCTION; SRC-FAMILY KINASES; TNF RECEPTOR-ASSOCIATED FACTOR 1;

EID: 84855295760     PISSN: 00043591     EISSN: 15290131     Source Type: Journal    
DOI: 10.1002/art.33318     Document Type: Article

References (50)

1. Graham RR, Hom G, Ortmann W, Behrens TW,. Review of recent genome-wide association scans in lupus. J Intern Med 2009; 265: 680-8.
2. Hom G, Graham RR, Modrek B, Taylor KE, Ortmann W, Garnier S, et al. Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. N Engl J Med 2008; 358: 900-9. (Pubitemid 351397089)
3. Crow MK,. Collaboration, genetic associations, and lupus erythematosus. N Engl J Med 2008; 358: 956-61. (Pubitemid 351397097)
4. Harley JB, Alarcon-Riquelme ME, Criswell LA, Jacob CO, Kimberly RP, Moser KL, et al. Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. Nat Genet 2008; 40: 204-10. (Pubitemid 351171405)
5. Gateva V, Sandling JK, Hom G, Taylor KE, Chung SA, Sun X, et al. A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. Nat Genet 2009; 41: 1228-33.
6. Han JW, Zheng HF, Cui Y, Sun LD, Ye DQ, Hu Z, et al. Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. Nat Genet 2009; 41: 1234-7.
7. Harley IT, Kaufman KM, Langefeld CD, Harley JB, Kelly JA,. Genetic susceptibility to SLE: new insights from fine mapping and genome-wide association studies. Nat Rev Genet 2009; 10: 285-90.
8. Yang W, Shen N, Ye DQ, Liu Q, Zhang Y, Qian XX, et al. Genome-wide association study in Asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus. PLoS Genet 2010; 6: e1000841.
9. Cancro MP, D'Cruz DP, Khamashta MA,. The role of B lymphocyte stimulator (BLyS) in systemic lupus erythematosus. J Clin Invest 2009; 119: 1066-73.
10. Kozyrev SV, Abelson AK, Wojcik J, Zaghlool A, Linga RM, Sanchez E, et al. Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus. Nat Genet 2008; 40: 211-6. (Pubitemid 351171404)
11. Cunninghame GD, Graham RR, Manku H, Wong AK, Whittaker JC, Gaffney PM, et al. Polymorphism at the TNF superfamily gene TNFSF4 confers susceptibility to systemic lupus erythematosus. Nat Genet 2008; 40: 83-9.
12. Dieguez-Gonzalez R, Akar S, Calaza M, Perez-Pampin E, Costas J, Torres M, et al. Genetic variation in the nuclear factor κB pathway in relation to susceptibility to rheumatoid arthritis. Ann Rheum Dis 2009; 68: 579-83.
13. Gregersen PK, Olsson LM,. Recent advances in the genetics of autoimmune disease. Annu Rev Immunol 2009; 27: 363-91.
14. Thu YM, Richmond A,. NF-κB inducing kinase: a key regulator in the immune system and in cancer. Cytokine Growth Factor Rev 2010; 21: 213-26.
15. Tavares RM, Turer EE, Liu CL, Advincula R, Scapini P, Rhee L, et al. The ubiquitin modifying enzyme A20 restricts B cell survival and prevents autoimmunity. Immunity 2010; 33: 181-91.
16. Kurreeman FA, Goulielmos GN, Alizadeh BZ, Rueda B, Houwing-Duistermaat J, Sanchez E, et al. The TRAF1-C5 region on chromosome 9q33 is associated with multiple autoimmune diseases. Ann Rheum Dis 2010; 69: 696-9.
17. Nishimoto K, Kochi Y, Ikari K, Yamamoto K, Suzuki A, Shimane K, et al. Association study of TRAF1-C5 polymorphisms with susceptibility to rheumatoid arthritis and systemic lupus erythematosus in Japanese. Ann Rheum Dis 2010; 69: 368-73.
18. Eyre S, Hinks A, Flynn E, Martin P, Wilson AG, Maxwell JR, et al. Confirmation of association of the REL locus with rheumatoid arthritis susceptibility in the UK population. Ann Rheum Dis 2010; 69: 1572-3.
19. Criswell LA,. Gene discovery in rheumatoid arthritis highlights the CD40/NF-κB signaling pathway in disease pathogenesis. Immunol Rev 2010; 233: 55-61.
20. Wang YH, Liu YJ,. OX40-OX40L interactions: a promising therapeutic target for allergic diseases? J Clin Invest 2007; 117: 3655-7.
21. Manku H, Graham DS, Vyse TJ,. Association of the co-stimulator OX40L with systemic lupus erythematosus. J Mol Med 2009; 87: 229-34.
22. Burgos P, Metz C, Bull P, Pincheira R, Massardo L, Errazuriz C, et al. Increased expression of c-rel, from the NF-κB/Rel family, in T cells from patients with systemic lupus erythematosus. J Rheumatol 2000; 27: 116-27. (Pubitemid 30058638)
23. Plenge RM, Seielstad M, Padyukov L, Lee AT, Remmers EF, Ding B, et al. TRAF1-C5 as a risk locus for rheumatoid arthritis: a genomewide study. N Engl J Med 2007; 357: 1199-209. (Pubitemid 47443179)
24. Graham RR, Cotsapas C, Davies L, Hackett R, Lessard CJ, Leon JM, et al. Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. Nat Genet 2008; 40: 1059-61.
25. Gregersen PK, Amos CI, Lee AT, Lu Y, Remmers EF, Kastner DL, et al. REL, encoding a member of the NF-κB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis. Nat Genet 2009; 41: 820-3.
26. Bates JS, Lessard CJ, Leon JM, Nguyen T, Battiest LJ, Rodgers J, et al. Meta-analysis and imputation identifies a 109 kb risk haplotype spanning TNFAIP3 associated with lupus nephritis and hematologic manifestations. Genes Immun 2009; 10: 470-7.
27. Croft M,. The role of TNF superfamily members in T-cell function and diseases. Nat Rev Immunol 2009; 9: 271-85.
28. Tan EM, Cohen AS, Fries JF, Masi AT, McShane DJ, Rothfield NF, et al. The 1982 revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 1982; 25: 1271-7. (Pubitemid 13221242)
29. Hochberg MC, for the Diagnostic and Therapeutic Criteria Committee of the American College of Rheumatology. Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus [letter]. Arthritis Rheum 1997; 40: 1725.
30. Ito I, Kawasaki A, Ito S, Hayashi T, Goto D, Matsumoto I, et al. Replication of the association between the C8orf13-BLK region and systemic lupus erythematosus in a Japanese population. Arthritis Rheum 2009; 60: 553-8.
31. Yang W, Ng P, Zhao M, Hirankarn N, Lau CS, Mok CC, et al. Population differences in SLE susceptibility genes: STAT4 and BLK, but not PXK, are associated with systemic lupus erythematosus in Hong Kong Chinese. Genes Immun 2009; 10: 219-26.
32. Chang YK, Yang W, Zhao M, Mok CC, Chan TM, Wong RW, et al. Association of BANK1 and TNFSF4 with systemic lupus erythematosus in Hong Kong Chinese. Genes Immun 2009; 10: 414-20.
33. Mahdi H, Fisher BA, Kallberg H, Plant D, Malmstrom V, Ronnelid J, et al. Specific interaction between genotype, smoking and autoimmunity to citrullinated α-enolase in the etiology of rheumatoid arthritis. Nat Genet 2009; 41: 1319-24.
34. Morgan AW, Thomson W, Martin SG, Carter AM, Erlich HA, Barton A, et al. Reevaluation of the interaction between HLA-DRB1 shared epitope alleles, PTPN22, and smoking in determining susceptibility to autoantibody-positive and autoantibody-negative rheumatoid arthritis in a large UK Caucasian population. Arthritis Rheum 2009; 60: 2565-76.
35. Perdigones N, Vigo AG, Lamas JR, Martinez A, Balsa A, Pascual-Salcedo D, et al. Evidence of epistasis between TNFRSF14 and TNFRSF6B polymorphisms in patients with rheumatoid arthritis. Arthritis Rheum 2010; 62: 705-10.
36. Iles MM,. The impact of incomplete linkage disequilibrium and genetic model choice on the analysis and interpretation of genome-wide association studies. Ann Hum Genet 2010; 74: 375-9.
37. Lewis CM,. Genetic association studies: design, analysis and interpretation. Brief Bioinform 2002; 3: 146-53.
38. Sigurdsson S, Nordmark G, Garnier S, Grundberg E, Kwan T, Nilsson O, et al. A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5. Hum Mol Genet 2008; 17: 2868-76.
39. Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, et al. Finding the missing heritability of complex diseases. Nature 2009; 461: 747-53.
40. Kallberg H, Padyukov L, Plenge RM, Ronnelid J, Gregersen PK, van der Helm-van MA, et al. Gene-gene and gene-environment interactions involving HLA-DRB1, PTPN22, and smoking in two subsets of rheumatoid arthritis. Am J Hum Genet 2007; 80: 867-75. (Pubitemid 46668455)
41. Hirschhorn JN,. Genomewide association studies: illuminating biologic pathways. N Engl J Med 2009; 360: 1699-701.
42. Gourh P, Agarwal SK, Martin E, Divecha D, Rueda B, Bunting H, et al. Association of the C8orf13-BLK region with systemic sclerosis in North American and European populations. J Autoimmun 2010; 34: 155-62.
43. Saijo K, Schmedt C, Su IH, Karasuyama H, Lowell CA, Reth M, et al. Essential role of Src-family protein tyrosine kinases in NF-κB activation during B cell development. Nat Immunol 2003; 4: 274-9. (Pubitemid 36322138)
44. Ioannidis JP, Thomas G, Daly MJ,. Validating, augmenting and refining genome-wide association signals. Nat Rev Genet 2009; 10: 318-29.
45. Karlson EW, Costenbader KH,. Epidemiology: interpreting studies of interactions between RA risk factors. Nat Rev Rheumatol 2010; 6: 72-3.
46. Borchers AT, Naguwa SM, Shoenfeld Y, Gershwin ME,. The geoepidemiology of systemic lupus erythematosus. Autoimmun Rev 2010; 9: A277-87.
47. Zhernakova A, van Diemen CC, Wijmenga C,. Detecting shared pathogenesis from the shared genetics of immune-related diseases. Nat Rev Genet 2009; 10: 43-55.
48. Zenewicz LA, Abraham C, Flavell RA, Cho JH,. Unraveling the genetics of autoimmunity. Cell 2010; 140: 791-7.
49. Frazer KA, Murray SS, Schork NJ, Topol EJ,. Human genetic variation and its contribution to complex traits. Nat Rev Genet 2009; 10: 241-51.
50. Goh KI, Cusick ME, Valle D, Childs B, Vidal M, Barabasi AL,. The human disease network. Proc Natl Acad Sci U S A 2007; 104: 8685-90. (Pubitemid 47175372)