Association of Genes in the NF-κB Pathway with Antibody-Positive Primary Sjögren's Syndrome

Scandinavian Journal of Immunology

Volumn 78, Issue 5, 2013, Pages 447-454

  Nordmark, Gunnel ^a   Wang, Chuan ^a   Vasaitis, Lilian ^a   Eriksson, Per ^b   Theander, Elke ^c   Kvarnström, Marika ^d   Forsblad d'Elia, Helena ^e   Jazebi, Helmi ^d,f   Sjöwall, Christopher ^b   Reksten, Tove Ragna ^g   Brun, Johan G ^g,h   Jonsson, Malin V ^g   Johnsen, Svein J ⁱ   Wahren Herlenius, Marie ^d   Omdal, Roald ⁱ   Jonsson, Roland ^g,h   Bowman, Simon ^j   Ng, Wan Fai ^k   Eloranta, Maija Leena ^a   Syvänen, Ann Christine ^a  

^a UPPSALA UNIVERSITY   (Sweden)

^b LINKÖPING UNIVERSITY   (Sweden)

^c LUND UNIVERSITY HOSPITAL   (Sweden)

^d KAROLINSKA INSTITUTE   (Sweden)

^e UNIVERSITY OF GOTHENBURG   (Sweden)

^f ÖREBRO UNIVERSITY HOSPITAL   (Sweden)

^g UNIVERSITY OF BERGEN   (Norway)

^h HAUKELAND UNIVERSITY HOSPITAL   (Norway)

ⁱ STAVANGER UNIVERSITY HOSPITAL   (Norway)

^j UNIVERSITY HOSPITALS BIRMINGHAM NHS FOUNDATION TRUST   (United Kingdom)

^k NEWCASTLE UNIVERSITY   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AUTOANTIBODY; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; LA ANTIBODY; RO ANTIBODY;

ADULT; ARTICLE; AUTOIMMUNITY; CONTROLLED STUDY; FEMALE; GENETIC ASSOCIATION; GENOTYPE; HUMAN; IKBKE GENE; INFLAMMATION; LYMPHOCYTIC INFILTRATION; MAJOR CLINICAL STUDY; MALE; NORWAY; PRIORITY JOURNAL; REPRESSOR GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SJOEGREN SYNDROME; SWEDEN; TNFAIP3 GENE; TNIP1 GENE; UNITED KINGDOM;

ANTIBODIES, ANTINUCLEAR; AUTOANTIGENS; CASE-CONTROL STUDIES; DNA COPY NUMBER VARIATIONS; DNA-BINDING PROTEINS; FEMALE; HUMANS; I-KAPPA B KINASE; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MIDDLE AGED; NF-KAPPA B; NF-KAPPA B P50 SUBUNIT; NUCLEAR PROTEINS; RIBONUCLEOPROTEINS; SJOGREN'S SYNDROME;

EID: 84886733689     PISSN: 03009475     EISSN: 13653083     Source Type: Journal    
DOI: 10.1111/sji.12101     Document Type: Article

References (49)

1. Jonsson R, Bolstad AI, Brokstad KA et al. Sjögren's syndrome - a plethora of clinical and immunological phenotypes with a complex genetic background. Ann N Y Acad Sci 2007;1108:433-47.
2. Theander E, Henriksson G, Ljungberg O et al. Lymphoma and other malignancies in primary Sjögren's syndrome: a cohort study on cancer incidence and lymphoma predictors. Ann Rheum Dis 2006;65:796-803.
3. Theander E, Vasaitis L, Baecklund E et al. Lymphoid organisation in labial salivary gland biopsies is a possible predictor for the development of malignant lymphoma in primary Sjogren's syndrome. Ann Rheum Dis 2011;70:1363-8.
4. Cruz-Tapias P, Rojas-Villarraga A, Maier-Moore S et al. HLA and Sjogren's syndrome susceptibility. A meta-analysis of worldwide studies. Autoimmun Rev 2012;11:281-7.
5. Gottenberg JE, Busson M, Loiseau P et al. In primary Sjogren's syndrome, HLA class II is associated exclusively with autoantibody production and spreading of the autoimmune response. Arthritis Rheum 2003;48:2240-5.
6. Ice JA, Li H, Adrianto I et al. Genetics of Sjogren's syndrome in the genome-wide association era. J Autoimmun 2012;39:57-63.
7. Korman BD, Alba MI, Le JM et al. Variant form of STAT4 is associated with primary Sjögren's syndrome. Genes Immun 2008;9:267-70.
8. Miceli-Richard C, Comets E, Loiseau P et al. Association of an IRF5 gene functional polymorphism with Sjögren's syndrome. Arthritis Rheum 2007;56:3989-94.
9. Nordmark G, Kristjansdottir G, Theander E et al. Additive effects of the major risk alleles of IRF5 and STAT4 in primary Sjögren's syndrome. Genes Immun 2009;10:68-76.
10. Shembade N, Ma A, Harhaj EW. Inhibition of NF-kappaB signaling by A20 through disruption of ubiquitin enzyme complexes. Science 2010;327:1135-9.
11. Ramirez VP, Gurevich I, Aneskievich BJ. Emerging roles for TNIP1 in regulating post-receptor signaling. Cytokine Growth Factor Rev 2012;23:109-18.
12. Sankar S, Chan H, Romanow WJ et al. IKK-i signals through IRF3 and NFkappaB to mediate the production of inflammatory cytokines. Cell Signal 2006;18:982-93.
13. Graham RR, Cotsapas C, Davies L et al. Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. Nat Genet 2008;40:1059-61.
14. Musone SL, Taylor KE, Lu TT et al. Multiple polymorphisms in the TNFAIP3 region are independently associated with systemic lupus erythematosus. Nat Genet 2008;40:1062-4.
15. Musone SL, Taylor KE, Nititham J et al. Sequencing of TNFAIP3 and association of variants with multiple autoimmune diseases. Genes Immun 2011;12:176-82.
16. Dieude P, Guedj M, Wipff J et al. Association of the TNFAIP3 rs5029939 variant with systemic sclerosis in the European Caucasian population. Ann Rheum Dis 2010;69:1958-64.
17. Thomson W, Barton A, Ke X et al. Rheumatoid arthritis association at 6q23. Nat Genet 2007;39:1431-3.
18. Nair RP, Duffin KC, Helms C et al. Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways. Nat Genet 2009;41:199-204.
19. Wellcome Trust Case Control Consortium. Genome-wide association study of 14, 000 cases of seven common diseases and 3, 000 shared controls. Nature 2007;447:661-78.
20. Allanore Y, Saad M, Dieude P et al. Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. PLoS Genet 2011;7:e1002091.
21. Fung EY, Smyth DJ, Howson JM et al. Analysis of 17 autoimmune disease-associated variants in type 1 diabetes identifies 6q23/TNFAIP3 as a susceptibility locus. Genes Immun 2009;10:188-91.
22. Gateva V, Sandling JK, Hom G 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.
23. Sun F, Li P, Chen H et al. Association studies of TNFSF4, TNFAIP3 and FAM167A-BLK polymorphisms with primary Sjogren's syndrome in Han Chinese. J Hum Genet 2013;58:475-9.
24. Nordmark G, Kristjansdottir G, Theander E et al. Association of EBF1, FAM167A(C8orf13)-BLK and TNFSF4 gene variants with primary Sjögren's syndrome. Genes Immun 2011;12:100-9.
25. Dieguez-Gonzalez R, Akar S, Calaza M et al. Genetic variation in the nuclear factor kappaB pathway in relation to susceptibility to rheumatoid arthritis. Ann Rheum Dis 2009;68:579-83.
26. Sandling JK, Garnier S, Sigurdsson S et al. A candidate gene study of the type I interferon pathway implicates IKBKE and IL8 as risk loci for SLE. Eur J Hum Genet 2011;19:479-84.
27. Vitali C, Bombardieri S, Jonsson R et al. Classification criteria for Sjögren's syndrome: a revised version of the European criteria proposed by the American-European consensus group. Ann Rheum Dis 2002;61:554-8.
28. Plenge RM, Seielstad M, Padyukov L et al. TRAF1-C5 as a risk locus for rheumatoid arthritis-a genomewide study. N Engl J Med 2007;357:1199-209.
29. Ng WF, Bowman SJ, Griffiths B et al. United Kingdom Primary Sjogren's Syndrome Registry-a united effort to tackle an orphan rheumatic disease. Rheumatology (Oxford) 2011;50:32-9.
30. Fan JB, Oliphant A, Shen R et al. Highly parallel SNP genotyping. Cold Spring Harb Symp Quant Biol 2003;68:69-78.
31. Howie BN, Donnelly P, Marchini J. A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet 2009;5:e1000529.
32. Purcell S, Neale B, Todd-Brown K et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007;81:559-75.
33. Adrianto I, Wang S, Wiley GB et al. Association of two independent functional risk haplotypes in TNIP1 with systemic lupus erythematosus. Arthritis Rheum 2012;64:3695-705.
34. Kawasaki A, Ito S, Furukawa H et al. Association of TNFAIP3 interacting protein 1, TNIP1 with systemic lupus erythematosus in a Japanese population: a case-control association study. Arthritis Res Ther 2010;12:R174.
35. Wang C, Ahlford A, Jarvinen TM et al. Genes identified in Asian SLE GWASs are also associated with SLE in Caucasian populations. Eur J Hum Genet 2013;21:994-9.
36. Zhong H, Li XL, Li M et al. Replicated associations of TNFAIP3, TNIP1 and ETS1 with systemic lupus erythematosus in a southwestern Chinese population. Arthritis Res Ther 2011;13:R186.
37. Manoussakis MN, Georgopoulou C, Zintzaras E et al. Sjögren's syndrome associated with systemic lupus erythematosus: clinical and laboratory profiles and comparison with primary Sjögren's syndrome. Arthritis Rheum 2004;50:882-91.
38. Lisi S, Sisto M, Lofrumento DD et al. Sjogren's syndrome autoantibodies provoke changes in gene expression profiles of inflammatory cytokines triggering a pathway involving TACE/NF-kappaB. Lab Invest 2012;92:615-24.
39. Gallagher J, Howlin J, McCarthy C et al. Identification of Naf1/ABIN-1 among TNF-alpha-induced expressed genes in human synoviocytes using oligonucleotide microarrays. FEBS Lett 2003;551:8-12.
40. Reksten TR, Johnsen SJ, Jonsson MV et al. Genetic associations to germinal centre formation in primary Sjogren's syndrome. Ann Rheum Dis 2013. doi: 10.1136/annrheumdis-2012-202500. [Epub ahead of print]
41. Cerhan JR, Liu-Mares W, Fredericksen ZS et al. Genetic variation in tumor necrosis factor and the nuclear factor-kappaB canonical pathway and risk of non-Hodgkin's lymphoma. Cancer Epidemiol Biomarkers Prev 2008;17:3161-9.
42. Ungerbäck J, Belenki D, Jawad ul-Hassan A et al. Genetic variation and alterations of genes involved in NFkappaB/TNFAIP3- and NLRP3-inflammasome signaling affect susceptibility and outcome of colorectal cancer. Carcinogenesis 2012;33:2126-34.
43. Zou YF, Wang F, Feng XL et al. Association of NFKB1 -94ins/delATTG promoter polymorphism with susceptibility to autoimmune and inflammatory diseases: a meta-analysis. Tissue Antigens 2011;77:9-17.
44. Salim PH, Jobim M, Bredemeier M et al. Interleukin-10 Gene Promoter and NFKB1 Promoter Insertion/Deletion Polymorphisms in Systemic Sclerosis. Scand J Immunol 2013;77:162-8.
45. Honma K, Tsuzuki S, Nakagawa M et al. TNFAIP3/A20 functions as a novel tumor suppressor gene in several subtypes of non-Hodgkin lymphomas. Blood 2009;114:2467-75.
46. Dong G, Chanudet E, Zeng N et al. A20, ABIN-1/2, and CARD11 mutations and their prognostic value in gastrointestinal diffuse large B-cell lymphoma. Clin Cancer Res 2011;17:1440-51.
47. Balding DJ. A tutorial on statistical methods for population association studies. Nat Rev Genet 2006;7:781-91.
48. Lavoie TN, Stewart CM, Berg KM et al. Expression of interleukin-22 in Sjogren's syndrome: significant correlation with disease parameters. Scand J Immunol 2011;74:377-82.
49. Rusakiewicz S, Nocturne G, Lazure T et al. NCR3/NKp30 contributes to pathogenesis in primary Sjögren's syndrome. Sci Transl Med 2013;5:195-96.