HLA-DRB1∗11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis

Proceedings of the National Academy of Sciences of the United States of America

Volumn 112, Issue 52, 2015, Pages 15970-15975

  Ombrello, Michael J ^a   Remmers, Elaine F ^b   Tachmazidou, Ioanna ^c   Grom, Alexei ^d,e   Foell, Dirk ^f   Haas, Johannes Peter ^g   Martini, Alberto ^h,i   Gattorno, Marco ⁱ   Özen, Seza ^j   Prahalad, Sampath ^k   Zeft, Andrew S ^l   Bohnsack, John F ^m   Mellins, Elizabeth D ⁿ   Ilowite, Norman T ^o   Russo, Ricardo ^p   Len, Claudio ^q   Hilario, Maria Odete E ^q   Oliveira, Sheila ^r   Yeung, Rae S M ^s,t   Rosenberg, Alan ^u   Wedderburn, Lucy R ^v,w   Anton, Jordi ^x   Schwarza, Tobias ^y   Hinksb, Anne ^z   Bilginer, Yelda ^j   Park, Jane ⁿ   Cobb, Joanna ^z   Satorius, Colleen L ^b   Han, Buhm ^aa,ab,ac   Baskin, Elizabeth ^a   Signa, Sara ^h   Duerr, Richard H ^ad,ae   Achkar, J P ^l   Kamboh, M Ilyas ^ad   Kaufman, Kenneth M ^d,e   Kottyan, Leah C ^d,e   Pinto, Dalila ^af   Scherer, Stephen W ^ag   Alarcón Riquelme, Marta E ^ah,ai   Docampo, Elisa ^aj,ak   Estivill, Xavier ^ak   Gül, Ahmet ^al   De Bakker, Paul I W ^am   Raychaudhuri, Soumya ^z,aa,ab   Langefeld, Carl D ^an   Thompson, Susan ^d,e   Zeggini, Eleftheria ^c   Thomson, Wendy ^z   Kastner, Daniel L ^b   Woo, Patricia ^w   more..

^a NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^d UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^e CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^f UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^g German Centre for Rheumatology in Children and Adolescents   (Germany)

^h UNIVERSITY OF GENOA   (Italy)

ⁱ G GASLINI INSTITUTE   (Italy)

^j HACETTEPE UNIVERSITY   (Turkey)

^k EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^l LERNER RESEARCH INSTITUTE   (United States)

^m UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

ⁿ STANFORD UNIVERSITY   (United States)

^o CHILDREN S HOSPITAL AT MONTEFIORE   (United States)

^p HOSPITAL DE PEDIATRÍA PROF DR JUAN P GARRAHAN   (Argentina)

^q FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^r FEDERAL UNIVERSITY OF RIO DE JANEIRO   (Brazil)

^s UNIVERSITY OF TORONTO   (Canada)

^t UNIVERSITY OF TORONTO   (Canada)

^u UNIVERSITY OF SASKATCHEWAN   (Canada)

^v UNIVERSITY COLLEGE LONDON   (United Kingdom)

^w UNIVERSITY COLLEGE LONDON   (United Kingdom)

^x UNIVERSITY OF BARCELONA   (Spain)

^y UNIVERSITY OF WÜRZBURG   (Germany)

^z UNIVERSITY OF MANCHESTER   (United Kingdom)

^aa BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^ab BRIGHAM AND WOMEN S HOSPITAL   (United States)

^ac University of Ulsan College of Medicine   (South Korea)

^ad UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^ae UNIVERSITY OF PITTSBURGH   (United States)

^af MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^ag HOSPITAL FOR SICK CHILDREN   (Canada)

^ah OKLAHOMA MEDICAL RESEARCH FOUNDATION   (United States)

^ai UNIVERSITY OF GRANADA   (Spain)

^aj UNIVERSITY OF LIÈGE   (Belgium)

^ak UNIVERSITAT POMPEU FABRA   (Spain)

^al ISTANBUL UNIVERSITY   (Turkey)

^am UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^an WAKE FOREST UNIVERSITY HEALTH SCIENCES   (United States)

more..

Author keywords

Autoinflammation; Human leukocyte antigen; Still's disease; Systemic juvenile idiopathic arthritis

Indexed keywords

GLUTAMIC ACID; HLA DRB1 ANTIGEN; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 2; HLA ANTIGEN CLASS 2;

ARTICLE; CHROMOSOME 6; CONTROLLED STUDY; GENE CLUSTER; GENE LINKAGE DISEQUILIBRIUM; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HAPLOTYPE; HLA TYPING; HUMAN; MAJOR CLINICAL STUDY; META ANALYSIS; MULTICENTER STUDY; PRIORITY JOURNAL; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMIC JUVENILE IDIOPATHIC ARTHRITIS; CHILD; CLINICAL TRIAL; GENE FREQUENCY; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; JUVENILE RHEUMATOID ARTHRITIS; META ANALYSIS (TOPIC); ODDS RATIO;

ARTHRITIS, JUVENILE; CHILD; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HISTOCOMPATIBILITY ANTIGENS CLASS II; HLA-DRB1 CHAINS; HUMANS; LINKAGE DISEQUILIBRIUM; META-ANALYSIS AS TOPIC; ODDS RATIO; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS;

EID: 84952685055     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1520779112     Document Type: Article

References (27)

1. Petty RE, et al.; International League of Associations for Rheumatology (2004) International League of Associations for Rheumatology classification of juvenile idiopathic arthritis: Second revision, Edmonton, 2001. J Rheumatol 31(2):390-392.
2. Woo P (2006) Systemic juvenile idiopathic arthritis: Diagnosis, management, and outcome. Nat Clin Pract Rheumatol 2(1):28-34.
3. Martini A (2012) Systemic juvenile idiopathic arthritis. Autoimmun Rev 12(1):56-59.
4. Schulert GS, Grom AA (2015) Pathogenesis of macrophage activation syndrome and potential for cytokine-directed therapies. Annu Rev Med 66:145-159.
5. Behrens EM, Beukelman T, Paessler M, Cron RQ (2007) Occult macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis. J Rheumatol 34(5):1133-1138.
6. Gattorno M, et al. (2008) The pattern of response to anti-interleukin-1 treatment distinguishes two subsets of patients with systemic-onset juvenile idiopathic arthritis. Arthritis Rheum 58(5):1505-1515.
7. Ruperto N, et al.; Paediatric Rheumatology International Trials Organization; Pediatric Rheumatology Collaborative Study Group (2008) Abatacept in children with juvenile idiopathic arthritis: a randomised, double-blind, placebo-controlled withdrawal trial. Lancet 372(9636):383-391.
8. Record JL, Beukelman T, Cron RQ (2011) Combination therapy of abatacept and anakinra in children with refractory systemic juvenile idiopathic arthritis: A retrospective case series. J Rheumatol 38(1):180-181.
9. Schneider R, De Benedetti F (2011) Systemic juvenile idiopathic arthritis. Textbook of Pediatric Rheumatology, eds Cassidy JT, Petty RE, Laxer RM, Lindsley CB (Saunders, Philadelphia), pp 236-248.
10. Thierry S, Fautrel B, Lemelle I, Guillemin F (2014) Prevalence and incidence of juvenile idiopathic arthritis: A systematic review. Joint Bone Spine 81(2):112-117.
11. Bedford PA, Ansell BM, Hall PJ, Woo P (1992) Increased frequency of DR4 in systemic onset juvenile chronic arthritis. Clin Exp Rheumatol 10(2):189-193.
12. Date Y, et al. (1999) Identification of a genetic risk factor for systemic juvenile rheumatoid arthritis in the 5'-flanking region of the TNFalpha gene and HLA genes. Arthritis Rheum 42(12):2577-2582.
13. Desaymard C, et al. (1996) Major histocompatibility complex markers and disease heterogeneity in one hundred eight patients with systemic onset juvenile chronic arthritis. Rev Rhum Engl Ed 63(1):9-16.
14. Hollenbach JA, et al. (2010) Juvenile idiopathic arthritis and HLA class I and class II interactions and age-at-onset effects. Arthritis Rheum 62(6):1781-1791.
15. Miller ML, et al. (1985) HLA gene frequencies in children and adults with systemic onset juvenile rheumatoid arthritis. Arthritis Rheum 28(2):146-150.
16. Thomson W, et al.; British Paediatric Rheumatology Study Group (2002) Juvenile idiopathic arthritis classified by the ILAR criteria: HLA associations in UK patients. Rheumatology (Oxford) 41(10):1183-1189.
17. Mellins ED, Macaubas C, Grom AA (2011) Pathogenesis of systemic juvenile idiopathic arthritis: Some answers, more questions. Nat Rev Rheumatol 7(7):416-426.
18. Rigante D, Cantarini L (2014) The systemic-onset variant of juvenile idiopathic arthritis needs to be recorded as an autoinflammatory syndrome: Comment on the review by Nigrovic. Arthritis Rheumatol 66(9):2645.
19. Prahalad S, et al. (2012) Hierarchy of risk of childhood-onset rheumatoid arthritis conferred by HLA-DRB1 alleles encoding the shared epitope. Arthritis Rheum 64(3):925-930.
20. Jones EY, Fugger L, Strominger JL, Siebold C (2006) MHC class II proteins and disease: A structural perspective. Nat Rev Immunol 6(4):271-282.
21. Raziuddin S, Bahabri S, Al-Dalaan A, Siraj AK, Al-Sedairy S (1998) A mixed Th1/Th2 cell cytokine response predominates in systemic onset juvenile rheumatoid arthritis: Immunoregulatory IL-10 function. Clin Immunol Immunopathol 86(2):192-198.
22. Omoyinmi E, et al. (2012) Th1 and Th17 cell subpopulations are enriched in the peripheral blood of patients with systemic juvenile idiopathic arthritis. Rheumatology (Oxford) 51(10):1881-1886.
23. Haylett RS, Koch N, Rink L (2009) MHC class II molecules activate NFAT and the ERK group of MAPK through distinct signaling pathways in B cells. Eur J Immunol 39(7):1947-1955.
24. Liu X, et al. (2011) Intracellular MHC class II molecules promote TLR-triggered innate immune responses by maintaining activation of the kinase Btk. Nat Immunol 12(5):416-424.
25. Andreae S, Buisson S, Triebel F (2003) MHC class II signal transduction in human dendritic cells induced by a natural ligand, the LAG-3 protein (CD223). Blood 102(6):2130-2137.
26. Kissner TL, et al. (2011) Activation of MyD88 signaling upon staphylococcal enterotoxin binding to MHC class II molecules. PLoS One 6(1):e15985.
27. Trede NS, Geha RS, Chatila T (1991) Transcriptional activation of IL-1 beta and tumor necrosis factor-alpha genes by MHC class II ligands. J Immunol 146(7):2310-2315.