Whole blood transcriptional profiling in ankylosing spondylitis identifies novel candidate genes that might contribute to the inflammatory and tissue-destructive disease aspects

Arthritis Research and Therapy

Volumn 13, Issue 2, 2011, Pages

  Pimentel Santos, Fernando M ^a,b,c   Ligeiro, Dário ^d   Matos, Mafalda ^b   Mourão, Ana F ^a,c   Costa, José ^e   Santos, Helena ^f   Barcelos, Anabela ^g   Godinho, Fátima ^h   Pinto, Patricia ⁱ   Cruz, Margarida ^j   Fonseca, João E ^k,l   Guedes Pinto, Henrique ^k   Branco, Jaime C ^j,l   Brown, Matthew A ^m   Thomas, Gethin P ^m  

^a NOVA MEDICAL SCHOOL   (Portugal)

^b UNIVERSITY OF TRÁS OS MONTES AND ALTO DOURO   (Portugal)

^c HOSPITAL EGAS MONIZ   (Portugal)

^d Ministerio da Saude Portuguese   (Portugal)

^e Centro Hospitalar do Alto Minho EPE   (Portugal)

^f INSTITUTO PORTUGUÊS DE REUMATOLOGIA   (Portugal)

^g Hospital Infante D Pedro EPE   (Portugal)

^h HOSPITAL GARCIA DE ORTA   (Portugal)

ⁱ CENTRO HOSPITALAR DE VILA NOVA DE GAIA ESPINHO   (Portugal)

^j Centro Hospitalar das Caldas da Rainha   (Portugal)

^k INSTITUTO DE MEDICINA MOLECULAR   (Portugal)

^l HOSPITAL DE SANTA MARIA   (Portugal)

^m UNIVERSITY OF QUEENSLAND   (Australia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALLOGRAFT INFLAMMATORY FACTOR 1; BETA7 INTEGRIN; CALGRANULIN A; CHEMOKINE RECEPTOR CX3CR1; COMPLEMENTARY DNA; DNA METHYLTRANSFERASE 1; E1A ASSOCIATED P300 PROTEIN; HIGH MOBILITY GROUP B2 PROTEIN; KRUPPEL LIKE FACTOR 5; MINICHROMOSOME MAINTENANCE PROTEIN 3; OSTEONECTIN; PROTEIN TYROSINE PHOSPHATASE; PROTEIN TYROSINE PHOSPHATASE 1B; XERODERMA PIGMENTOSUM GROUP C PROTEIN;

ANKYLOSING SPONDYLITIS; ARTICLE; ATG3 GENE; BCL11B GENE; BLOOD ANALYSIS; BONE METABOLISM; CARTILAGE; CCDC72 GENE; CHMP5 GENE; CIP29 GENE; CLEC4D GENE; CLSTN1 GENE; CMTM2 GENE; COHORT ANALYSIS; CONTROLLED STUDY; DGKQ GENE; DISEASE COURSE; DNA MICROARRAY; DOCK10 GENE; GENE; GENE EXPRESSION PROFILING; GENETIC ASSOCIATION; GMFG GENE; GNG11 GENE; GZMM GENE; HUMAN; IL27RA GENE; LSM3 GENE; MAJOR CLINICAL STUDY; MAPK8IP3 GENE; MICROARRAY ANALYSIS; MRPS18C GENE; MYL6 GENE; NDUFB3 GENE; NDUFS4 GENE; NGFRAP1 GENE; PDCD10 GENE; POLYMERASE CHAIN REACTION; PPP2R1A GENE; PPP2R3C GENE; PSMA4 GENE; RECEPTOR DOWN REGULATION; RECEPTOR UPREGULATION; SBK1 GENE; SF3B14 GENE; SHFM1 GENE; SYF2 GENE; UBL5 GENE; UQCRB GENE; VAMP5 GENE; ZMAT2 GENE; ADULT; CLUSTER ANALYSIS; FEMALE; GENETICS; INFLAMMATION; MALE; MIDDLE AGED; PATHOLOGY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ADULT; CLUSTER ANALYSIS; FEMALE; GENE EXPRESSION PROFILING; GENOME-WIDE ASSOCIATION STUDY; HUMANS; INFLAMMATION; MALE; MIDDLE AGED; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SPONDYLITIS, ANKYLOSING; YOUNG ADULT;

EID: 79953668485     PISSN: 14786354     EISSN: 14786362     Source Type: Journal    
DOI: 10.1186/ar3309     Document Type: Article

References (49)

1. Schett G. Bone formation versus bone resorption in ankylosing spondylitis. Adv Exp Med Biol 2009, 649:114-121. full_text, 19731624.
2. Brown MA, Kennedy LG, MacGregor AJ, Darke C, Duncan E, Shatford JL, Taylor A, Calin A, Wordsworth P. Susceptibility to ankylosing spondylitis in twins: the role of genes, HLA, and the environment. Arthritis Rheum 1997, 40:1823-1828. 10.1002/art.1780401015, 9336417.
3. Hamersma J, Cardon LR, Bradbury L, Brophy S, van der Horst-Bruinsma I, Calin A, Brown MA. Is disease severity in ankylosing spondylitis genetically determined?. Arthritis Rheum 2001, 44:1396-1400. 10.1002/1529-0131(200106)44:6<1396::AID-ART233>3.0.CO;2-A, 11407700.
4. Brophy S, Hickey S, Menon A, Taylor G, Bradbury L, Hamersma J, Calin A. Concordance of disease severity among family members with ankylosing spondylitis?. J Rheumatol 2004, 31:1775-1778.
5. Burton PR, Clayton DG, Cardon LR, Craddock N, Deloukas P, Duncanson A, Kwiatkowski DP, McCarthy MI, Ouwehand WH, Samani NJ, Todd JA, Donnelly P, Barrett JC, Davison D, Easton D, Evans DM, Leung HT, Marchini JL, Morris AP, Spencer CC, Tobin MD, Attwood AP, Boorman JP, Cant B, Everson U, Hussey JM, Jolley JD, Knight AS, et al. Wellcome Trust Case Control Consortium, Australo-Anglo-American Spondylitis Consortium (TASC) Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet 2007, 39:1329-1337. 10.1038/ng.2007.17, 2680141, 17952073, Wellcome Trust Case Control Consortium, Australo-Anglo-American Spondylitis Consortium (TASC).
6. Brionez TF, Reveille JD. The contribution of genes outside the major histocompatibility complex to susceptibility to ankylosing spondylitis. Curr Opin Rheumatol 2008, 20:384-391. 10.1097/BOR.0b013e32830460fe, 18525349.
7. Debey S, Schoenbeck U, Hellmich M, Gathof BS, Pillai R, Zander T, Schultze JL. Comparison of different isolation techniques prior gene expression profiling of blood derived cells: impact on physiological responses, on overall expression and the role of different cell types. Pharmacogenomics J 2004, 4:193-207. 10.1038/sj.tpj.6500240, 15037859.
8. van der Linden S, Valkenburg HA, Cats A. Evaluation of diagnostic criteria for ankylosing spondylitis. A proposal for modification of the New York criteria. Arthritis Rheum 1984, 27:361-368. 10.1002/art.1780270401, 6231933.
9. Kruhøffer M, Dyrskjøt L, Voss T, Lindberg RL, Wyrich R, Thykjaer T, Orntoft TF. Isolation of microarray-grade total RNA, microRNA, and DNA from a single PAXgene blood RNA tube. J Mol Diagn 2007, 9:452-458. 1975097, 17690207.
10. Lin SM, Du P, Huber W, Kibbe WA. Model-based variance-stabilizing transformation for Illumina microarray data. Nucleic Acids Res 2008, 36:e11. 10.1093/nar/gkm1075, 2241869, 18178591.
11. Workman C, Jensen LJ, Jarmer H, Berka R, Gautier L, Nielser HB, Saxild HH, Nielsen C, Brunak S, Knudsen S. A new non-linear normalization method for reducing variability in DNA microarray experiments. Genome Biol 2002, 3:research0048. 10.1186/gb-2002-3-9-research0048, 126873, 12225587.
12. Du P, Kibbe WA, Lin SM. lumi: a pipeline for processing Illumina microarray. Bioinformatics 2008, 24:1547-1548. 10.1093/bioinformatics/btn224, 18467348.
13. Simon R, Lam A, Li MC, Ngan M, Menenzes S, Zhao Y. Analysis of Gene Expression Data Using BRB-Array Tools. Cancer Inform 2007, 3:11-17. 2675854, 19455231.
14. Steg A, Wang W, Blanquicett C, Grunda JM, Eltoum IA, Wang K, Buchsbaum DJ, Vickers SM, Russo S, Diasio RB, Frost AR, LoBuglio AF, Grizzle WE, Johnson MR. Multiple gene expression analyses in paraffin-embedded tissues by TaqMan low-density array: application to hedgehog and Wnt pathway analysis in ovarian endometrioid adenocarcinoma. J Mol Diagn 2006, 8:76-83. 10.2353/jmoldx.2006.040402, 1867577, 16436637.
15. Abruzzo LV, Lee KY, Fuller A, Silverman A, Keating MJ, Medeiros LJ, Coombes KR. Validation of oligonucleotide microarray data using microfluidic low-density arrays: a new statistical method to normalize real-time RT-PCR data. Biotechniques 2005, 38:785-792. 10.2144/05385MT01, 15945375.
16. Gu J, Märker-Hermann E, Baeten D, Tsai WC, Gladman D, Xiong M, Deister H, Kuipers JG, Huang F, Song YW, Maksymowych W, Kalsi J, Bannai M, Seta N, Rihl M, Crofford LJ, Veys E, De Keyser F, Yu DT. A 588-gene microarray analysis of the peripheral blood mononuclear cells of spondyloarthropathy patients. Rheumatology 2002, 41:759-766. 10.1093/rheumatology/41.7.759, 12096225.
17. Gu J, Rihl M, Märker-Hermann E, Baeten D, Kuipers JG, Song YW, Maksymowych WP, Burgos-Vargas R, Veys EM, De Keyser F, Deister H, Xiong M, Huang F, Tsai WC, Yu DT. Clues to pathogenesis of spondyloarthropathy derived from synovial fluid mononuclear cell gene expression profiles. J Rheumatol 2002, 29:2159-2164.
18. Laukens D, Peeters H, Cruyssen BV, Boonefaes T, Elewaut D, De Keyser F, Mielants H, Cuvelier C, Veys EM, Knecht K, Van Hummelen P, Remaut E, Steidler L, De Vos M, Rottiers P. Altered gut transcriptome in spondyloarthropathy. Ann Rheum Dis 2006, 65:1293-1300. 10.1136/ard.2005.047738, 1798320, 16476712.
19. Smith JA, Barnes MD, Hong D, DeLay ML, Inman RD, Colbert RA. Gene expression analysis of macrophages derived from ankylosing spondylitis patients reveals interferon-gamma dysregulation. Arthritis Rheum 2008, 58:1640-1649. 10.1002/art.23512, 2888278, 18512784.
20. Duan R, Leo P, Bradbury L, Brown MA, Thomas G. Gene expression profiling reveals a downregulation in immune-associated genes in patients with AS. Ann Rheum Dis 2010, 69:1724-1729. 10.1136/ard.2009.111690, 19643760.
21. Gu J, Wei YL, Wei JC, Huang F, Jan MS, Centola M, Frank MB, Yu D. Identification of RGS1 as a candidate biomarker for undifferentiated spondylarthritis by genome-wide expression profiling and real-time polymerase chain reaction. Arthritis Rheum 2009, 60:3269-3279. 10.1002/art.24968, 2936922, 19877080.
22. Sharma SM, Choi D, Planck SR, Harrington CA, Austin CR, Lewis JA, Diebel TN, Martin TM, Smith JR, Rosenbaum JT. Insights into the pathogenesis of axial spondyloarthropathy based on gene expression profiles. Arthritis Res Ther 2009, 11:R168. 10.1186/ar2855, 3003511, 19900269.
23. Assassi S, Reveille JD, Arnett FC, Weisman MH, Ward MM, Agarwal SK, Gourh P, Bhula J, Sharif R, Sampat K, Mayes MD, Tan FK. Whole-blood gene expression profiling in ankylosing spondylitis shows upregulation of Toll-like receptor 4 and 5. J Rheumatol 2010, 38:87-98. 10.3899/jrheum.100469, 20952467.
24. Vartanian K, Slottke R, Johnstone T, Casale A, Planck SR, Choi D, Smith JR, Rosenbaum JT, Harrington CA. Gene expression profiling of whole blood: comparison of target preparation methods for accurate and reproducible microarray analysis. BMC Genomics 2009, 10:2. 10.1186/1471-2164-10-2, 2649161, 19123946.
25. Paul WE, Ohara J. B-cell stimulatory factor-1/interleukin 4. Annu Rev Immunol 1987, 5:429-459. 10.1146/annurev.iy.05.040187.002241, 3297106.
26. Lu X, Malumbres R, Shields B, Jiang X, Sarosiek KA, Natkunam Y, Tiganis T, Lossos IS. PTP1B is a negative regulator of interleukin 4-induced STAT6 signaling. Blood 2008, 112:4098-4108. 10.1182/blood-2008-03-148726, 2582009, 18716132.
27. Yelo E, Bernardo MV, Gimeno L, Alcaraz-García MJ, Majado MJ, Parrado A. Dock10, a novel CZH protein selectively induced by interleukin-4 in human B lymphocytes. Mol Immunol 2008, 45:3411-3418. 10.1016/j.molimm.2008.04.003, 18499258.
28. O'Garra A, Umland S, De France T, Christiansen J. 'B-cell factors' are pleiotropic. Immunol Today 1988, 9:45-54.
29. Jelinek DF, Lipsky PE. Inhibitory influence of IL-4 on human B cell responsiveness. J Immunol 1988, 141:164-173.
30. Rousset F, Malefijt RW, Slierendregt B, Aubry JP, Bonnefoy JY, Defrance T, Banchereau J, de Vries JE. Regulation of Fc receptor for IgE (CD23) and class II MHC antigen expression on Burkitt's lymphoma cell lines by human IL-4 and IFN-gamma. J Immunol 1988, 140:2625-2632.
31. Baek HJ, Zhang L, Jarvis LB, Gaston JS. Increased IL-4+ CD8+ T cells in peripheral blood and autoreactive CD8+ T cell lines of patients with inflammatory arthritis. Rheumatology 2008, 47:795-803. 10.1093/rheumatology/ken089, 18390584.
32. Jarvis LB, Matyszak MK, Duggleby RC, Goodall JC, Hall FC, Gaston JS. Autoreactive human peripheral blood CD8+ T cells with a regulatory phenotype and function. Eur J Immunol 2005, 35:2896-2908. 10.1002/eji.200526162, 16180249.
33. Zhang L, Jarvis LB, Baek HJ, Gaston JS. Regulatory IL4+CD8+ T cells in patients with ankylosing spondylitis and healthy controls. Ann Rheum Dis 2009, 68:1345-1351. 10.1136/ard.2008.088120, 18647857.
34. Graham LM, Brown GD. The Dectin-2 family of C-type lectins in immunity and homeostasis. Cytokine 2009, 48:148-155. 10.1016/j.cyto.2009.07.010, 2756403, 19665392.
35. Ruutu M, Yadav B, Thomas G, Steck R, Strutton G, Tran A, Velasco J, Deglia Esposti M, Zinkernagel M, Brown M, Thomas R. Fungal beta-glucan triggers spondyloarthropathy and Crohn's disease in SKG mice. Arthritis Rheum 2010, 62 Suppl 10:1446.
36. Hausser HJ, Decking R, Brenner RE. Testican-1, an inhibitor of pro-MMP-2 activation, is expressed in cartilage. Osteoarthritis Cartilage 2004, 12:870-877. 10.1016/j.joca.2004.07.008, 15501402.
37. Gruber HE, Sage EH, Norton HJ, Funk S, Ingram J, Hanley EN. Targeted deletion of the SPARC gene accelerates disc degeneration in the aging mouse. J Histochem Cytochem 2005, 53:1131-1138. 10.1369/jhc.5A6687.2005, 15879573.
38. Ghosh AK, Yuan W, Mori Y, Chen S, Varga J. Antagonistic regulation of type I collagen gene expression by interferon-gamma and transforming growth factor-beta. Integration at the level of p300/CBP transcriptional coactivators. J Biol Chem 2001, 276:11041-11048. 10.1074/jbc.M004709200, 11134049.
39. Ahmad R, Qureshi HY, El Mabrouk M, Sylvester J, Ahmad M, Zafarullah M. Inhibition of interleukin 1-induced matrix metalloproteinase 13 expression in human chondrocytes by interferon gamma. Ann Rheum Dis 2007, 66:782-789. 10.1136/ard.2006.060269, 1954643, 17179173.
40. Heikkinen PT, Nummela M, Leivonen SK, Westermarck J, Hill CS, Kähäri VM, Jaakkola PM. Hypoxia-activated Smad3-specific dephosphorylation by PP2A. J Biol Chem 2010, 285:3740-3749. 10.1074/jbc.M109.042978, 2823515, 19951945.
41. Cheng CC, Uchiyama Y, Hiyama A, Gajghate S, Shapiro IM, Risbud MV. PI3K/AKT regulates aggrecan gene expression by modulating Sox9 expression and activity in nucleus pulposus cells of the intervertebral disc. J Cell Physiol 2009, 221:668-676. 10.1002/jcp.21904, 3042319, 19711351.
42. Velasco J, Zarrabeitia MT, Prieto JR, Perez-Castrillon JL, Perez-Aguilar MD, Perez-Nuñez MI, Sañudo C, Hernandez-Elena J, Calvo I, Ortiz F, Gonzalez-Macias J, Riancho JA. Wnt pathway genes in osteoporosis and osteoarthritis: differential expression and genetic association study. Osteoporos Int 2010, 21:109-118. 10.1007/s00198-009-0931-0, 19373426.
43. Gagarina V, Gabay O, Dvir-Ginzberg M, Lee EJ, Brady JK, Quon MJ, Hall DJ. SirT1 enhances survival of human osteoarthritic chondrocytes by repressing protein tyrosine phosphatase 1B and activating the insulin-like growth factor receptor pathway. Arthritis Rheum 2010, 62:1383-1392.
44. Zhang Q, Wang HY, Marzec M, Raghunath PN, Nagasawa T, Wasik MA. STAT3- and DNA methyltransferase 1-mediated epigenetic silencing of SHP-1 tyrosine phosphatase tumor suppressor gene in malignant T lymphocytes. Proc Natl Acad Sci USA 2005, 102:6948-6953. 10.1073/pnas.0501959102, 1100783, 15870198.
45. Davidson SI, Liu Y, Danoy PA, Wu X, Thomas GP, Jiang L, Sun L, Wang N, Han J, Han H, , Brown MA, Xu H. Australo-Anglo-American Spondyloarthritis Consortium; Visscher PM Association of STAT3 and TNFRSF1a with ankylosing spondylitis in Han Chinese. Ann Rheum Dis 2011, 70:289-292. 10.1136/ard.2010.133322, 21068102, Australo-Anglo-American Spondyloarthritis Consortium; Visscher PM.
46. Quinton LJ, Mizgerd JP. NF-κB and STAT3 signaling hubs for lung innate immunity. Cell Tissue Res 2011, 343:153-165. 10.1007/s00441-010-1044-y, 20872151.
47. Nanki T, Imai T, Nagasaka K, Urasaki Y, Nonomura Y, Taniguchi K, Hayashida K, Hasegawa J, Yoshie O, Miyasaka N. Migration of CX3CR1-positive T cells producing type 1 cytokines and cytotoxic molecules into the synovium of patients with rheumatoid arthritis. Arthritis Rheum 2002, 46:2878-2883. 10.1002/art.10622, 12428227.
48. Rivera-Nieves J, Olson T, Bamias G, Bruce A, Solga M, Knight RF, Cominelli F, Ley K. L-selectin, α4β1, and α4β7 integrins participate in CD4+ T cell recruitment to chronically inflamed small intestine.Expand+. J Immunol 2005, 174:2343-2352.
49. Gorfu G, Rivera-Nieves J, Hoang S, Abbott DW, Arbenz-Smith K, Azar DW, Pizarro TT, Cominelli F, McDuffie M, Ley K. Beta7 integrin deficiency suppresses B cell homing and attenuates chronic ileitis in SAMP1/YitFc mice. J Immunol 2010, 185:5561-5568. 10.4049/jimmunol.0903938, 20926792.