Association between genetic variants in the tumour necrosis factor/lymphotoxin α/lymphotoxin β locus and primary Sjögren's syndrome in Scandinavian samples

Annals of the Rheumatic Diseases

Volumn 71, Issue 6, 2012, Pages 981-988

  Bolstad, Anne Isine ^a   Le Hellard, Stephanie ^a,b   Kristjansdottir, Gudlaug ^c   Vasaitis, Lilian ^c   Kvarnström, Marika ^d   Sjöwall, Christopher ^e   Johnsen, Svein Joar Auglænd ^f   Eriksson, Per ^e   Omdal, Roald ^f   Brun, Johan G ^a   Wahren Herlenius, Marie ^d   Theander, Elke ^g   Syvänen, Ann Christine ^c   Rönnblom, Lars ^c   Nordmark, Gunnel ^c   Jonsson, Roland ^a  

^a UNIVERSITY OF BERGEN   (Norway)

^b HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^c UPPSALA UNIVERSITY   (Sweden)

^d KAROLINSKA INSTITUTE   (Sweden)

^e LINKÖPING UNIVERSITY   (Sweden)

^f STAVANGER UNIVERSITY HOSPITAL   (Norway)

^g LUND UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

LA ANTIBODY; LYMPHOTOXIN; LYMPHOTOXIN BETA; RO ANTIBODY; TUMOR NECROSIS FACTOR;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE CONTROL STUDY; CAUCASIAN; COHORT ANALYSIS; CONTROLLED STUDY; FEMALE; GENE; GENE CLUSTER; GENE LOCUS; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC MARKER; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; LYMPHOTOXIN ALPHA GENE; LYMPHOTOXIN BETA GENE; MAJOR CLINICAL STUDY; MALE; MOLECULAR PATHOLOGY; NORWAY; PRIORITY JOURNAL; SCANDINAVIA; SINGLE NUCLEOTIDE POLYMORPHISM; SJOEGREN SYNDROME; SWEDEN; TUMOR NECROSIS FACTOR GENE;

ADULT; AGED; COHORT STUDIES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HAPLOTYPES; HUMANS; LINKAGE DISEQUILIBRIUM; LYMPHOTOXIN-ALPHA; LYMPHOTOXIN-BETA; MALE; MIDDLE AGED; NORWAY; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; SALIVARY GLANDS; SJOGREN'S SYNDROME; SWEDEN; TUMOR NECROSIS FACTOR-ALPHA;

EID: 84860918960     PISSN: 00034967     EISSN: 14682060     Source Type: Journal    
DOI: 10.1136/annrheumdis-2011-200446     Document Type: Article

References (51)

1. Bowman SJ, Ibrahim GH, Holmes G, et al. Estimating the prevalence among Caucasian women of primary Sjögren's syndrome in two general practices in Birmingham, UK. Scand J Rheumatol 2004;33:39-43. (Pubitemid 38328081)
2. 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. (Pubitemid 34539104)
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 Sjögren's syndrome. Ann Rheum Dis 2011;70:1363-8.
4. Gordon TP, Bolstad AI, Rischmueller M, et al. Autoantibodies in primary Sjögren's syndrome: new insights into mechanisms of autoantibody diversification and disease pathogenesis. Autoimmunity 2001;34:123-32. (Pubitemid 34149800)
5. Bolstad AI, Wassmuth R, Haga HJ, et al. HLA markers and clinical characteristics in Caucasians with primary Sjögren's syndrome. J Rheumatol 2001;28:1554-62. (Pubitemid 32660627)
6. Bolstad AI, Jonsson R. Genetic aspects of Sjögren's syndrome. Arthritis Res 2002;4:353-9. (Pubitemid 35364003)
7. Jonsson R, Bolstad AI, Brokstad KA, et al. Sjögren's syndrome - a plethora of clinical and immunological phenotypes with a complex genetic background. Ann NY Acad Sci 2007;1108:433-47. (Pubitemid 47528757)
8. Reveille JD, Macleod MJ, Whittington K, et al. Specific amino acid residues in the second hypervariable region of HLA-DQA1 and DQB1 chain genes promote the Ro (SS-A)/La (SS-B) autoantibody responses. J Immunol 1991;146:3871-6.
9. Bolstad AI, Wargelius A, Nakken B, et al. Fas and Fas ligand gene polymorphisms in primary Sjögren's syndrome. J Rheumatol 2000;27:2397-405.
10. Harangi M, Kaminski WE, Fleck M, et al. Homozygosity for the 168His variant of the minor histocompatibility antigen HA-1 is associated with reduced risk of primary Sjögren's syndrome. Eur J Immunol 2005;35:305-17. (Pubitemid 40136467)
11. Nakken B, Jonsson R, Bolstad AI. Polymorphisms of the Ro52 gene associated with anti-Ro 52-kd autoantibodies in patients with primary Sjögren's syndrome. Arthritis Rheum 2001;44:638-46.
12. 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. (Pubitemid 350262326)
13. 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. (Pubitemid 351584194)
14. 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.
15. Hjelmervik TO, Petersen K, Jonassen I, et al. Gene expression profiling of minor salivary glands clearly distinguishes primary Sjögren's syndrome patients from healthy control subjects. Arthritis Rheum 2005;52:1534-44. (Pubitemid 40663945)
16. Emamian ES, Leon JM, Lessard CJ, et al. Peripheral blood gene expression profiling in Sjögren's syndrome. Genes Immun 2009;10:285-96.
17. Gottenberg JE, Cagnard N, Lucchesi C, et al. Activation of IFN pathways and plasmacytoid dendritic cell recruitment in target organs of primary Sjögren's syndrome. Proc Natl Acad Sci U S A 2006;103:2770-5.
18. Gatumu MK, Skarstein K, Papandile A, et al. Blockade of lymphotoxin-beta receptor signaling reduces aspects of Sjögren's syndrome in salivary glands of non-obese diabetic mice. Arthritis Res Ther 2009;11:R24.
19. O'Rourke KP, O'Donoghue G, Adams C, et al. High levels of lymphotoxin-beta (LT-beta) gene expression in rheumatoid arthritis synovium: clinical and cytokine correlations. Rheumatol Int 2008;28:979-86. (Pubitemid 351989825)
20. Rennert PD, Browning JL, Mebius R, et al. Surface lymphotoxin alpha/beta complex is required for the development of peripheral lymphoid organs. J Exp Med 1996;184:1999-2006. (Pubitemid 26404489)
21. Vondenhoff MF, Greuter M, Goverse G, et al. LTbetaR signaling induces cytokine expression and up-regulates lymphangiogenic factors in lymph node anlagen. J Immunol 2009;182:5439-45.
22. Mebius RE. Organogenesis of lymphoid tissues. Nat Rev Immunol 2003;3:292-303. (Pubitemid 37328682)
23. Browning JL, Ngam-ek A, Lawton P, et al. Lymphotoxin beta, a novel member of the TNF family that forms a heteromeric complex with lymphotoxin on the cell surface. Cell 1993;72:847-56. (Pubitemid 23110227)
24. Browning JL, Miatkowski K, Griffiths DA, et al. Preparation and characterization of soluble recombinant heterotrimeric complexes of human lymphotoxins alpha and beta. J Biol Chem 1996;271:8618-26. (Pubitemid 26123276)
25. Bossen C, Ingold K, Tardivel A, et al. Interactions of tumor necrosis factor (TNF) and TNF receptor family members in the mouse and human. J Biol Chem 2006;281:13964-71. (Pubitemid 43848322)
26. Browning JL. Inhibition of the lymphotoxin pathway as a therapy for autoimmune disease. Immunol Rev 2008;223:202-20. (Pubitemid 351986178)
27. Young J, Yu X, Wolslegel K, et al. Lymphotoxin-alphabeta heterotrimers are cleaved by metalloproteinases and contribute to synovitis in rheumatoid arthritis. Cytokine 2010;51:78-86.
28. Rhead B, Karolchik D, Kuhn RM, et al. The UCSC Genome Browser database: update 2010. Nucleic Acids Res 2010;38:D613-19.
29. de Bakker PI, McVean G, Sabeti PC, et al. A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC. Nat Genet 2006;38:1166-72. (Pubitemid 44470362)
30. Abraham LJ, Kroeger KM. Impact of the -308 TNF promoter polymorphism on the transcriptional regulation of the TNF gene: relevance to disease. J Leukoc Biol 1999;66:562-6. (Pubitemid 29489880)
31. Mira JP, Cariou A, Grall F, et al. Association of TNF2, a TNF-alpha promoter polymorphism, with septic shock susceptibility and mortality: a multicenter study. JAMA 1999;282:561-8. (Pubitemid 29380293)
32. Wang B, Wang J, Zheng Y, et al. A study of TNF-alpha-238 and -308 polymorphisms with different outcomes of persistent hepatitis B virus infection in China. Pathology 2010;42:674-80.
33. Abdou AM, Gao X, Cozen W, et al. Human leukocyte antigen (HLA) A1-B8-DR3 (8.1) haplotype, tumor necrosis factor (TNF) G-308A, and risk of non-Hodgkin lymphoma. Leukemia 2010;24:1055-8.
34. Wang SS, Cozen W, Cerhan JR, et al. Immune mechanisms in non-Hodgkin lymphoma: joint effects of the TNF G308A and IL10 T3575A polymorphisms with non- Hodgkin lymphoma risk factors. Cancer Res 2007;67:5042-54. (Pubitemid 46910215)
35. Fernberg P, Chang ET, Duvefelt K, et al. Genetic variation in chromosomal translocation breakpoint and immune function genes and risk of non-Hodgkin lymphoma. Cancer Causes Control 2010;21:759-69.
36. Skibola CF, Bracci PM, Nieters A, et al. Tumor necrosis factor (TNF) and lymphotoxin-alpha (LTA) polymorphisms and risk of non-Hodgkin lymphoma in the InterLymph Consortium. Am J Epidemiol 2010;171:267-76.
37. Rothman N, Skibola CF, Wang SS, et al. Genetic variation in TNF and IL10 and risk of non-Hodgkin lymphoma: a report from the InterLymph Consortium. Lancet Oncol 2006;7:27-38. (Pubitemid 43025390)
38. 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. (Pubitemid 43799181)
39. Chae YS, Kim JG, Sohn SK, et al. Lymphotoxin alfa and receptor-interacting protein kinase 1 gene polymorphisms may correlate with prognosis in patients with diffuse large B cell lymphoma treated with R-CHOP. Cancer Chemother Pharmacol 2010;65:571-7.
40. Mekinian A, Tamouza R, Pavy S, et al. Functional study of TNF-a promoter polymorphisms: literature review and meta-analysis. Eur Cytokine Netw 2011;22:88-102.
41. Kidas E, Möricke A, Beier R, et al. Genetic polymorphisms of the lymphotoxin alpha gene are associated with increased risk for lethal infections during induction therapy for childhood acute leukemia: a case-control study. Int J Hematol 2009;89:584-91.
42. Ozaki K, Ohnishi Y, Iida A, et al. Functional SNPs in the lymphotoxin-alpha gene that are associated with susceptibility to myocardial infarction. Nat Genet 2002;32:650-4. (Pubitemid 35435179)
43. Schreyer SA, Vick CM, LeBoeuf RC. Loss of lymphotoxin-alpha but not tumor necrosis factor-alpha reduces atherosclerosis in mice. J Biol Chem 2002;277:12364-8. (Pubitemid 34952808)
44. Mulcahy H, O'Rourke KP, Adams C, et al. LST1 and NCR3 expression in autoimmune inflammation and in response to IFN-gamma, LPS and microbial infection. Immunogenetics 2006;57:893-903. (Pubitemid 43185424)
45. Vandiedonck C, Taylor MS, Lockstone HE, et al. Pervasive haplotypic variation in the spliceo-transcriptome of the human major histocompatibility complex. Genome Res 2011;21:1042-54.
46. Fernando MM, Stevens CR, Walsh EC, et al. Defining the role of the MHC in autoimmunity: a review and pooled analysis. PLoS Genet 2008;4:e1000024.
47. McHugh NJ, Owen P, Cox B, et al. MHC class II, tumour necrosis factor alpha, and lymphotoxin alpha gene haplotype associations with serological subsets of systemic lupus erythematosus. Ann Rheum Dis 2006;65:488-94.
48. Noble JA, Valdes AM, Lane JA, et al. Linkage disequilibrium with predisposing DR3 haplotypes accounts for apparent effects of tumor necrosis factor and lymphotoxin-alpha polymorphisms on type 1 diabetes susceptibility. Hum Immunol 2006;67:999-1004. (Pubitemid 44894643)
49. Hindorff LA, Sethupathy P, Junkins HA, et al. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci U S A 2009;106:9362-7.
50. Sirota M, Schaub MA, Batzoglou S, et al. Autoimmune disease classification by inverse association with SNP alleles. PLoS Genet 2009;5:e1000792.
51. Schaub MA, Kaplow IM, Sirota M, et al. A classifier-based approach to identify genetic similarities between diseases. Bioinformatics 2009;25:i21-9.