Genetics, genomics, and proteomics of Sjögren’s syndrome

Sjogren's Syndrome: Diagnosis and Therapeutics

Volumn , Issue , 2012, Pages 11-31

  Lessard, Christopher J ^a   Ice, John A ^a   Maier Moore, Jacen ^a   Montgomery, Courtney G ^a   Scofield, Hal ^a   Moser, Kathy L ^a  

^a OKLAHOMA MEDICAL RESEARCH FOUNDATION   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84948067849     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-0-85729-947-5_2     Document Type: Chapter

References (65)

1. Besana C, Salmaggi C, Pellegrino C, et al. Chronic bilateral dacryo-adenitis in identical twins: a possible incomplete form of Sjogren syndrome. Eur J Pediatr. 1991;150:652-5.
2. Bolstad AI, Haga HJ, Wassmuth R, et al. Monozygotic twins with primary Sjogren’s syndrome. J Rheumatol. 2000;27:2264-6.
3. Houghton KM, Cabral DA, Petty RE, et al. Primary Sjogren’s syndrome in dizygotic adolescent twins: one case with lymphocytic interstitial pneumonia. J Rheumatol. 2005;32:1603-6.
4. Scofield RH, Kurien BT, Reichlin M. Immunologically restricted and inhibitory anti-Ro/SSA in monozygotic twins. Lupus. 1997;6:395-8.
5. Cobb BL, Lessard CJ, Harley JB, et al. Genes and Sjogren’s syndrome. Rheum Dis Clin North Am. 2008;34:847-68. vii.
6. Fox RP. Head and neck findings in systemic lupus erythematosus: Sjogren’s syndrome and the eye, ear, and larynx. Philadelphia: Lippencott, Williams, & Wilkins; 2008.
7. Baranzini SE. The genetics of autoimmune diseases: a networked perspective. Curr Opin Immunol. 2009;21:596-605.
8. Deapen D, Escalante A, Weinrib L, et al. A revised estimate of twin concordance in systemic lupus erythematosus. Arthritis Rheum. 1992;35:311-8.
9. Silman AJ, MacGregor AJ, Thomson W, et al. Twin concordance rates for rheumatoid arthritis: results from a nationwide study. Br J Rheumatol. 1993;32:903-7.
10. Graham RR, Ortmann WA, Langefeld CD, et al. Visualizing human leukocyte antigen class II risk haplotypes in human systemic lupus erythematosus. Am J Hum Genet. 2002;71:543-53.
11. Korman BD, Alba MI, Le JM, et al. Variant form of STAT4 is associated with primary Sjogren’s syndrome. Genes Immun. 2008;9:267-70.
12. Feero WG, Guttmacher AE, Collins FS. Genomic medicine - an updated primer. N Engl J Med. 2010;362:2001-11.
13. Durbin RM, Abecasis GR, Altshuler DL, et al. A map of human genome variation from population-scale sequencing. Nature. 2010;467:1061-73.
14. The International HapMap Consortium. The International HapMap Project. Nature. 2003;426:789-96.
15. Miceli-Richard C, Comets E, Loiseau P, et al. Association of an IRF5 gene functional polymorphism with Sjogren’s syndrome. Arthritis Rheum. 2007;56:3989-94.
16. Nordmark G, Kristjansdottir G, Theander E, et al. Additive effects of the major risk alleles of IRF5 and STAT4 in primary Sjogren’s syndrome. Genes Immun. 2009;10:68-76.
17. Nordmark G, Kristjansdottir G, Theander E, et al. Association of EBF1, FAM167A(C8orf13)- BLK and TNFSF4 gene variants with primary Sjogren’s syndrome. Genes Immun. 2011; 12(2):100-9.
18. Takaoka A, Yanai H, Kondo S, et al. Integral role of IRF-5 in the gene induction programme activated by Toll-like receptors. Nature. 2005;434:243-9.
19. Taniguchi T, Ogasawara K, Takaoka A, et al. IRF family of transcription factors as regulators of host defense. Annu Rev Immunol. 2001;19:623-55.
20. Demirci FY, Manzi S, Ramsey-Goldman R, et al. Association of a common interferon regulatory factor 5 (IRF5) variant with increased risk of systemic lupus erythematosus (SLE). Ann Hum Genet. 2007;71:308-11.
21. Graham RR, Kozyrev SV, Baechler EC, et al. A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus. Nat Genet. 2006;38:550-5.
22. Kelly JA, Kelley JM, Kaufman KM, et al. Interferon regulatory factor-5 is genetically associated with systemic lupus erythematosus in African Americans. Genes Immun. 2008;9: 187-94.
23. Kozyrev SV, Lewen S, Reddy PM, et al. Structural insertion/deletion variation in IRF5 is associated with a risk haplotype and defines the precise IRF5 isoforms expressed in systemic lupus erythematosus. Arthritis Rheum. 2007;56:1234-41.
24. Reddy MV, Velazquez-Cruz R, Baca V, et al. Genetic association of IRF5 with SLE in Mexicans: higher frequency of the risk haplotype and its homozygozity than Europeans. Hum Genet. 2007;121:721-7.
25. Shin HD, Sung YK, Choi CB, et al. Replication of the genetic effects of IFN regulatory factor 5 (IRF5) on systemic lupus erythematosus in a Korean population. Arthritis Res Ther. 2007;9:R32.
26. Sigurdsson S, Nordmark G, Goring HH, et al. Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus. Am J Hum Genet. 2005;76:528-37.
27. Remmers EF, Plenge RM, Lee AT, et al. STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. N Engl J Med. 2007;357:977-86.
28. Morinobu A, Gadina M, Strober W, et al. STAT4 serine phosphorylation is critical for IL-12- induced IFN-gamma production but not for cell proliferation. Proc Natl Acad Sci USA. 2002;99:12281-6.
29. Nishikomori R, Usui T, Wu CY, et al. Activated STAT4 has an essential role in Th1 differentiation and proliferation that is independent of its role in the maintenance of IL-12R beta 2 chain expression and signaling. J Immunol. 2002;169:4388-98.
30. Gottenberg JE, Cagnard N, Lucchesi C, et al. Activation of IFN pathways and plasmacytoid dendritic cell recruitment in target organs of primary Sjogren’s syndrome. Proc Natl Acad Sci USA. 2006;103:2770-5.
31. Lefkowitz DL, Lefkowitz SS. Macrophage-neutrophil interaction: a paradigm for chronic inflammation revisited. Immunol Cell Biol. 2001;79:502-6.
32. Fox RI, Carstens SA, Fong S, et al. Use of monoclonal antibodies to analyze peripheral blood and salivary gland lymphocyte subsets in Sjogren’s syndrome. Arthritis Rheum. 1982;25:419-26.
33. Fox RI, Kang HI, Ando D, et al. Cytokine mRNA expression in salivary gland biopsies of Sjogren’s syndrome. J Immunol. 1994;152:5532-9.
34. McGeehan GM, Becherer JD, Bast Jr RC, et al. Regulation of tumour necrosis factor-alpha processing by a metalloproteinase inhibitor. Nature. 1994;370:558-61.
35. Moutsopoulos HM, Hooks JJ, Chan CC, et al. HLA-DR expression by labial minor salivary gland tissues in Sjogren’s syndrome. Ann Rheum Dis. 1986;45:677-83.
36. Perez P, Goicovich E, Alliende C, et al. Differential expression of matrix metalloproteinases in labial salivary glands of patients with primary Sjogren’s syndrome. Arthritis Rheum. 2000;43:2807-17.
37. Wu AJ, Lafrenie RM, Park C, et al. Modulation of MMP-2 (gelatinase A) and MMP-9 (gelatinase B) by interferon-gamma in a human salivary gland cell line. J Cell Physiol. 1997;171: 117-24.
38. Ogawa N, Dang H, Lazaridis K, et al. Analysis of transforming growth factor beta and other cytokines in autoimmune exocrinopathy (Sjogren’s syndrome). J Interferon Cytokine Res. 1995;15:759-67.
39. The MHC sequencing consortium. Complete sequence and gene map of a human major histocompatibility complex. Nature. 1999;401:921-3.
40. Merriman TR, Todd JA. Genetics of autoimmune disease. Curr Opin Immunol. 1995;7: 786-92.
41. Nepom GT. MHC and autoimmune diseases. Immunol Ser. 1993;59:143-64.
42. Bolstad AI, Jonsson R. Genetic aspects of Sjogren’s syndrome. Arthritis Res. 2002;4:353-9.
43. Harley JB, Reichlin M, Arnett FC, et al. Gene interaction at HLA-DQ enhances autoantibody production in primary Sjogren’s syndrome. Science. 1986;232:1145-7.
44. Gottenberg JE, Busson M, Loiseau P, et al. Association of transforming growth factor beta1 and tumor necrosis factor alpha polymorphisms with anti-SSB/La antibody secretion in patients with primary Sjogren’s syndrome. Arthritis Rheum. 2004;50:570-80.
45. Ito T, Wang YH, Duramad O, et al. OX40 ligand shuts down IL-10-producing regulatory T cells. Proc Natl Acad Sci USA. 2006;103:13138-43.
46. Ramos-Casals M, Font J. Primary Sjogren’s syndrome: current and emergent aetiopathogenic concepts. Rheumatology (Oxford). 2005;44:1354-67.
47. Larsson A, Bredberg A, Henriksson G, et al. Immunohistochemistry of the B-cell component in lower lip salivary glands of Sjogren’s syndrome and healthy subjects. Scand J Immunol. 2005;61:98-107.
48. Tengner P, Halse AK, Haga HJ, et al. Detection of anti-Ro/SSA and anti-La/SSB autoantibody- producing cells in salivary glands from patients with Sjogren’s syndrome. Arthritis Rheum. 1998;41:2238-48.
49. Groom J, Kalled SL, Cutler AH, et al. Association of BAFF/BLyS overexpression and altered B cell differentiation with Sjogren’s syndrome. J Clin Invest. 2002;109:59-68.
50. Mariette X, Roux S, Zhang J, et al. The level of BLyS (BAFF) correlates with the titre of autoantibodies in human Sjogren’s syndrome. Ann Rheum Dis. 2003;62:168-71.
51. Pers JO, Daridon C, Devauchelle V, et al. BAFF overexpression is associated with autoantibody production in autoimmune diseases. Ann N Y Acad Sci. 2005;1050:34-9.
52. Schneider P, MacKay F, Steiner V, et al. BAFF, a novel ligand of the tumor necrosis factor family, stimulates B cell growth. J Exp Med. 1999;189:1747-56.
53. Mackay F, Browning JL. BAFF: a fundamental survival factor for B cells. Nat Rev Immunol. 2002;2:465-75.
54. Daridon C, Pers JO, Devauchelle V, et al. Identification of transitional type II B cells in the salivary glands of patients with Sjogren’s syndrome. Arthritis Rheum. 2006;54:2280-8.
55. Nossent JC, Lester S, Zahra D, et al. Polymorphism in the 5’ regulatory region of the B-lymphocyte activating factor gene is associated with the Ro/La autoantibody response and serum BAFF levels in primary Sjogren’s syndrome. Rheumatology (Oxford). 2008;47: 1311-6.
56. Hjelmervik TO, Petersen K, Jonassen I, et al. Gene expression profiling of minor salivary glands clearly distinguishes primary Sjogren’s syndrome patients from healthy control subjects. Arthritis Rheum. 2005;52:1534-44.
57. Perez P, Anaya JM, Aguilera S, et al. Gene expression and chromosomal location for susceptibility to Sjogren’s syndrome. J Autoimmun. 2009;33:99-108.
58. Emamian ES, Leon JM, Lessard CJ, et al. Peripheral blood gene expression profiling in Sjogren’s syndrome. Genes Immun. 2009;10:285-96.
59. Baechler EC, Gregersen PK, Behrens TW. The emerging role of interferon in human systemic lupus erythematosus. Curr Opin Immunol. 2004;16:801-7.
60. Sozzani S, Bosisio D, Scarsi M, et al. Type I interferons in systemic autoimmunity. Autoimmunity. 2010;43:196-203.
61. Fleissig Y, Deutsch O, Reichenberg E, et al. Different proteomic protein patterns in saliva of Sjogren’s syndrome patients. Oral Dis. 2009;15:61-8.
62. Hu S, Wang J, Meijer J, et al. Salivary proteomic and genomic biomarkers for primary Sjogren’s syndrome. Arthritis Rheum. 2007;56:3588-600.
63. Giusti L, Baldini C, Bazzichi L, et al. Proteome analysis of whole saliva: a new tool for rheumatic diseases - the example of Sjogren’s syndrome. Proteomics. 2007;7:1634-43.
64. Ryu OH, Atkinson JC, Hoehn GT, et al. Identification of parotid salivary biomarkers in Sjogren’s syndrome by surface-enhanced laser desorption/ionization time-of-flight mass spectrometry and two-dimensional difference gel electrophoresis. Rheumatology (Oxford). 2006;45:1077-86.
65. Hjelmervik TO, Jonsson R, Bolstad AI. The minor salivary gland proteome in Sjogren’s syndrome. Oral Dis. 2009;15:342-53.