CONTRIBUTION OF NON-HLA GENES TO JUVENILE IDIOPATHIC ARTHRITIS SUSCEPTIBILITY

Cover Page
  • Authors: Savost'yanov K.V.1, Alexeeva E.I.2, Chistiakov D.A.3
  • Affiliations:
    1. Scientific Centre of Children Health, Moscow
    2. Scientific Centre of Children Health, Moscow I.M. Sechenov First Moscow State Medical University
    3. Scientific Centre of Children Health, Moscow N.I. Pirogov Russian National Research Medical University, Moscow
  • Issue: Vol 69, No 9-10 (2014)
  • Pages: 83-94
  • Section: PEDIATRICS: CURRENT ISSUES
  • URL: https://vestnikramn.spr-journal.ru/jour/article/view/393
  • DOI: https://doi.org/10.15690/vramn.v69i9-10.1136

Abstract


Juvenile idiopathic arthritis (JIA) is the most common chronic rheumatologic disease in children. JIA is a group of disorders that share the clinical manifestation of chronic joint inflammation. The Human Leukocyte Antigen region (HLA) seems to be a major susceptibility locus for JIA that is estimated to account for 17% of familial segregation of the disease. Genome-wide association studies (GWAS), case-control studies and meta-analyses of the post-GWAS era revealed over 20 non-HLA loci conferring susceptibility to JIA. At least a half of those are shared between JIA and rheumatoid arthritis, an adult rheumatic disease, thereby suggesting for similarity of pathogenic mechanisms of both diseases. New findings also suggest for a likely role of epigenetic alterations in the pathogenesis of JIA that should be investigated in the future.


K. V. Savost'yanov

Scientific Centre of Children Health, Moscow

Author for correspondence.
Email: 7443333@gmail.com

Russian Federation кандидат биологических наук, заведующий лабораторией молекулярной генетики и клеточной биологии Лабораторного отдела Научного центра здоровья детей Адрес: 119991, Москва, Ломоносовский пр-т, д. 2, стр. 1, тел.: +7 (495) 744-33-33

E. I. Alexeeva

Scientific Centre of Children Health, Moscow
I.M. Sechenov First Moscow State Medical University

Email: alekatya@ya.ru

Russian Federation доктор медицинских наук, профессор, заведующая ревматологическим отделением Научного центра здоровья детей, декан педиатрического факультета Первого МГМУ им. И.М. Сеченова Адрес: 119991, Москва, Ломоносовский пр-т, д. 2, стр. 1 тел.: +7 (499) 134-02-97

D. A. Chistiakov

Scientific Centre of Children Health, Moscow
N.I. Pirogov Russian National Research Medical University, Moscow

Email: dimitry.chistiakov@lycos.com

Russian Federation доктор биологических наук, профессор, главный научный сотрудник лабо- ратории молекулярной генетики и клеточной биологии Лабораторного отдела Научного центра здоровья детей, ведущий научный сотрудник РНИМУ им. Н.И. Пирогова Адрес: 117997, Москва, ул. Островитянова, д. 1, тел.: +7 (499) 134-09-19

  1. Espinosa M., Gottlieb B.S. Pediatr. Rev. 2012; 33: 303–313.
  2. Petty R.E., Southwood T.R., Manners P., Baum J., Glass D.N., Golden-berg J., He X., Maldonado-Cocco J., Orozco-Alcala J., Prieur A.M., Suarez-Almazor M.E., Woo P. J. Rheumatol. 2004; 31: 390–392.
  3. Adib N., Silman A., Thomson W. Rheumatology (Oxford). 2005; 44: 995–1001.
  4. Prahalad S., O’Brien E., Fraser A.M., Kerber R.A., Mineau G.P., Pratt D., Donaldson D., Bamshad M.J., Bohnsack J. Arthritis Rheum. 2004; 50: 4022–4027.
  5. Nagy K.H., Lukacs, K., Sipos P., Hermann R., Madacsy L. and Soltesz G. Pediatr. Diabetes. 2010; 11: 579–582.
  6. Stagi S., Giani T., Simonini G. and Falcini F. Rheumatology (Oxford). 2005; 44: 517–520.
  7. Prahalad S. Curr. Probl. Pediatr. Adolesc. Health Care. 2006; 36: 83–90.
  8. Prahalad S. and Glass D.N. Pediatr. Rheumatol. Online J. 2008; 6: 11.
  9. Hamilton M.L., Gladman D.D., Shore A., Laxer R.M. and Silver-man E.D. Ann. Rheum. Dis. 1990; 49: 694–697.
  10. Scholz S. and Albert E.D. Clin. Exp. Rheumatol. 1993; 11 (Suppl. 9): 37–41.
  11. Hinks A., Ke X., Barton A., Eyre S., Bowes J., Worthington J., Thompson S.D., Langefeld C.D., Glass D.N. and Thomson W. Arthritis Rheum. 2009; 60: 251–257.
  12. Thompson S.D., Sudman M., Ramos P.S., Marion M.C., Ryan M., Tsoras M., Weiler T., Wagner, M., Keddache M., Haas J.P., Mueller C., Prahalad S., Bohnsack J., Wise C.A., Punaro M., Zhang D., Rosé C.D., Comeau M.E., Divers J., Glass D.N. and Langefeld C.D. Arthritis Rheum. 2010; 62: 3265–3276.
  13. Lee Y.H., Bae S.C. and Song G.G. Inflamm. Res. 2012; 61: 411– 415.
  14. Arechiga A.F., Habib T., He Y., Zhang X., Zhang, Z.Y., Funk A. and Buckner J.H. J. Immunol. 2009; 182: 3343–3347.
  15. Burn G.L., Svensson L., Sanchez-Blanco C., Saini M. and Cope A.P. FEBS Lett. 2011; 585: 3689–3698.
  16. Prahalad S., Hansen S., Whiting A., Guthery S.L., Clifford B., McNally B., Zeft A.S., Bohnsack J.F. and Jorde L.B. Arthritis Rheum. 2009; 60: 2124–2130.
  17. Butter F., Davison L., Viturawong T., Scheibe M., Vermeulen M., Todd J.A. and Mann M. PLoS Genet. 2012; 8: 1002982.
  18. Chistiakov D.A., Chistiakova E.I., Voronova N.V., Turakulov R.I. and Savost’anov K.V. Scand. J. Immunol. 2011; 74: 496–501.
  19. Chistiakov D.A., Voronova N.V. and Chistiakov P.A. Immunol Lett. 2008; 118: 1–5.
  20. Bleesing J., Prada A., Siegel D.M., Villanueva J., Olson J., Ilowite N.T., Brunner H.I., Griffin T., Graham T.B., Sherry D.D., Passo M.H., Ramanan A.V., Filipovich A. and Grom A.A. Arthritis Rheum. 2007; 56: 965–971.
  21. Stelmaszczyk-Emmel A., Jackowska T., Rutkowska-Sak L., Marusak-Banacka M. and Wąsik M. Rheumatol. Int. 2012; 32: 1147– 1154.
  22. Hinks A., Barton A., Shephard N., Eyre S., Bowes J., Cargill M., Wang E., Ke X., Kennedy G.C., John S., Worthington J. and Thomson W. Arthritis Rheum. 2009; 60: 258–263.
  23. Daha N.A., Lie B.A., Trouw L.A., Stoeken G., Schonkeren J.J., Ding B., Kvien T.K., Schilham M.W., Padyukov L., Huizinga T.W. and Toes R. Ann. Rheum. Dis. 2012; 71: 567–571.
  24. Ramos P.S., Criswell L.A., Moser K.L., Comeau M.E., Williams A.H., Pajewski N.M., Chung S.A., Graham R.R., Zidovetzki R., Kelly J.A., Kaufman K.M., Jacob C.O., Vyse T.J., Tsao B.P., Kimberly R.P., Gaffney P.M., Alarcón-Riquelme M.E., Harley J.B. and Langefeld C.D. PLoS Genet. 2011; 7: 1002406.
  25. Thompson S.D., Marion M.C., Sudman M., Ryan M., Tsoras M., Howard T.D., Barnes M.G., Ramos P.S., Thomson W., Hinks A., Haas J.P., Prahalad S., Bohnsack J.F., Wise C.A., Punaro M., Rosé C.D., Pajewski N.M., Spigarelli M., Keddache M., Wagner M., Langefeld C.D. and Glass D.N. Arthritis Rheum. 2012; 64: 2781– 2791.
  26. Wang X., Hao J., Metzger D.L., Ao Z., Chen L., Ou D., Verchere C.B., Mui A. and Warnock G.A. PLoS One. 2012; 7: 28232.
  27. Argasinska J., Rana A.A., Gilchrist M.J., Lachani K., Young A. and Smith J.C. Int. J. Dev. Biol. 2009; 53: 37–43.
  28. Chang T.T., Kuchroo V.K. and Sharpe A.H. Curr. Dir. Autoimmun. 2002; 5: 113–130.
  29. Smolewska E., Stańczyk J., Brózik H., Biernacka-Zielińska M., Cebula B., Robak T. and Smolewski P. Ann. Rheum. Dis. 2008; 67: 762–768.
  30. Morbach H., Wiegering V., Richl P., Schwarz T., Suffa N., Eich-horn E.M., Eyrich M. and Girschick H.J. Arthritis Rheum. 2011; 63: 3458–3466.
  31. Hinks A., Eyre S., Ke X., Barton A., Martin P., Flynn E. and Pack-ham H. Ann. Rheum. Dis. 2010; 69: 1049–1053.
  32. Albers H.M., Kurreeman F.A., Houwing-Duistermaat J.J., Brink-man D.M., Kamphuis S.S., Girschick H.J., Wouters C., Van Ros-sum M.A., Verduijn W., Toes R.E., Huizinga T.W., Schilham M.W. and Cate R. Ann. Rheum. Dis. 2008; 67: 1578–1580.
  33. Behrens E.M., Finkel T.H., Bradfield J.P., Kim C.E., Linton L., Casalunovo T., Frackelton E.C., Santa E., Otieno F.G., Glessner J.T., Chiavacci R.M., Grant S.F. and Hakonarson H. Arthritis Rheum. 2008; 58: 2206–2207.
  34. Wajant H. and Scheurich P. FEBS Lett. 2011; 278: 862–876.
  35. Brunner J., Prelog M., Riedl M., Giner T., Hofer J., Würzner R. and Zimmerhackl L.B. Rheumatol. Int. 2012; 32: 1815–1818.
  36. Kurreeman F.A., Padyukov L., Marques R.B., Schrodi S.J., Seddighzadeh M., Stoeken-Rijsbergen G., Allaart C.F., Verduyn W., Houwing-Duistermaat J., Alfredsson L., Begovich A.B., Klareskog L., Huizinga T.W. and Toes R.E. PLoS Med. 2007; 4: 278.
  37. Kim S.W., Kim E.S., Moon C.M., Kim T.I., Kim W.H. and Cheon J.H. Dig. Dis. Sci. 2012; 57: 2600–2607.
  38. Kariuki S.N., Kirou K.A., MacDermott E.J., Barillas-Arias L., Crow M.K. and Niewold T.B. J. Immun. 2009; 182: 34–38.
  39. Lee Y.H., Bae S.C., Choi S.J., Ji J.D. and Song G.G. Inf. Res. 2012; 61: 635–641.
  40. Elsby L.M., Orozco G., Denton J., Worthington J., Ray D.W. and Donn R.P. Clin. Exp. Rheumatol. 2010; 28: 708–714.
  41. Scherer H.U., van der Linden M.P., Kurreeman F.A., Stoeken-Rijsbergen G., Cessie S.L., Huizinga T.W., van der Helm-van Mil A.H. and Toes R.E. Ann. Rheum. Dis. 2010; 69: 567–570.
  42. Ma J., Ding Y., Fang X., Wang R. and Sun Z. J. Immunol. 2012; 188: 5337–5347.
  43. Spolsk R. and Leonard W.J. Annu. Rev. Immunol. 2008; 26: 57–79.
  44. Liu R., Wu Q., Su D., Che N., Chen H., Geng L., Chen J., Chen W., Li X. and Sun L. Arthritis Res. Ther. 2012; 14: 255.
  45. Hollis-Moffatt J.E., Chen-Xu M., Topless R., Dalbeth N., Gow P.J., Harrison A.A., Highton J., Jones P.B., Nissen M., Smith M.D., van Rij A., Jones G.T., Stamp L.K. and Merriman T.R. Arthritis Res. Ther. 2010; 12: 116.
  46. Hinks A., Eyre S., Ke X., Barton A., Martin P., Flynn E., Pack-ham J., Worthington J. and Thomson W. Genes. Immun. 2010; 11: 194–198.
  47. Luo Z., Lin C., Guest E., Garrett A.S., Mohaghegh N., Swanson S., Marshall S., Florens L., Washburn M.P. and Shilatifard A. Mol. Cell Biol. 2012; 32: 2608–2617.
  48. Hinks A., Cobb J., Sudman M., Eyre S., Martin P., Flynn E., Pack-ham J., Barton A., Worthington J., Langefeld C.D., Glass D.N., Thompson S.D. and Thomson W. Ann. Rheum. Dis. 2012; 71: 1117–1121.
  49. You-Ten K.E., Muise E.S., Itié A., Michaliszyn E., Wagner J., Jothy S., Lapp W.S. and Tremblay M.L. J. Exp. Med. 1997; 186:683–693.
  50. Heinonen K.M., Nestel F.P., Newell E.W., Charette G., Seemayer T.A., Tremblay M.L. and Lapp W.S. Blood. 2004; 103: 3457– 3464.
  51. Doody K.M., Bussières-Marmen S., Li A., Paquet M., Hender-son J.E. and Tremblay M.L. Arthritis Rheum. 2012; 64: 752–761.
  52. Chistiakov D.A. and Chistiakova E.I. Int. J. Diabetes Mellit. 2010; 2: 114–118.
  53. van Vliet C., Bukczynska P.E., Puryer M.A., Sadek C.M., Shields B.J., Tremblay M.L. and Tiganis T. Nat. Immunol. 2005; 6: 253–260.
  54. Long S.A., Cerosaletti K., Wan J.Y., Ho J.C., Tatum M., Wei S., Shilling H.G. and Buckner J.H. Genes Immun. 2011; 12: 116–125.
  55. Scharl M., Mwinyi J., Fischbeck A., Leucht K., Eloranta J.J., Arikkat J., Pesch T., Kellermeier S., Mair A., Kullak-Ublick G.A., Truninger K., Noreen F., Regula J., Gaj P., Pittet V., Mueller C., Hofmann C., Fried M., McCole D.F. and Rogler G. Inflamm. Bowel Dis. 2012; 18: 900–912.
  56. Glas J., Wagner J., Seiderer J., Olszak T., Wetzke M., Beigel F., Tillack C., Stallhofer J., Friedrich M., Steib C., Göke B., Ochsenkühn T., Karbalai N., Diegelmann J., Czamara D. and Brand S. PLoS One. 2012; 7: 33682.
  57. Venkatesan S., Petrovic A., Van Ryk D.I., Locati M., Weissman D. and Murphy P.M. J. Biol. Chem. 2002; 277: 2287–2301.
  58. Lee Y.H., Bae S.C. and Song G.G. Mod. Rheumatol. 2013; 23: 304–310.
  59. Prahalad S., Bohnsack J.F., Jorde L.B., Whiting A., Clifford B., Dunn D., Weiss R., Moroldo M., Thompson S.D., Glass D.N. and Bamshad M.J. Genes. Immun. 2006; 7: 468–475.
  60. Lindner E., Nordang G.B., Melum E., Flatо B., Selvaag A.M., Thorsby E., Kvien T.K., Fоrre O.T. and Lie B.A. BMC. Med. Genet. 2007; 8: 33.
  61. Scheibel I., Veit T., Neves A.G., Souza L., Prezzi S., Machado S., Kohem C., Icarelli M., Xavier R., Brenol J.C. and Chies J.A. Scand. J. Rheumatol. 2008; 37: 13–17.
  62. Hinks A., Martin P., Flynn E., Eyre S., Packham J., Barton A., Worthington J. and Thomson W. Gen. Immun. 2010; 11: 584–589.
  63. Issekutz A.C., Quinn P.J., Lang B., Ramsey S., Huber A.M., Rowter D., Karkada M. and Issekutz T.B. Arthritis Rheum. 2011; 63: 3467–3476.
  64. Gattorno M., Prigione I., Morandi F., Gregorio A., Chiesa S., Ferlito F., Favre A., Uccelli A., Gambini C., Martini A. and Pistoia V. Arthritis Res. Ther. 2005; 7: 256–267.
  65. Kubota Y., Sano M., Goda S., Suzuki N. and Nishiwaki K. Development. 2006; 133: 263–273.
  66. Burgner D., Davila S., Breunis W.B., Ng S.B., Li Y., Bonnard C., Ling L., Wright V.J., Thalamuthu A., Odam M., Shimizu C., Burns J.C., Levin M., Kuijpers T.W., Hibberd M.L. PLoS Genet. 2009; 5: 1000319.
  67. Scola M.P., ImagawaT., Boivin G.P., Giannini E.H., Glass D.N., Hirsch R., Ling L., Wright V.J., Thalamuthu A., Odam M., Shimizu C., Burns J.C., Levin M., Kuijpers T.W. and Hibberd M.L. Arthritis Rheum. 2001; 44: 794–801.
  68. DeBusk L.M., Chen Y., Nishishita T., Chen J., Thomas J.W. and Lin P.C. Arthritis Rheum. 2003; 48: 2461–2471.
  69. Hinks A., Martin P., Flynn E., Eyre S., Packham J., Barton A., Worthington J., Thomson W. Ann. Rheum. Dis. 2010; 69: 2169– 2172.
  70. Dubé N., Cheng A. and Tremblay M.L. Proc. Natl. Acad. Sci. USA. 2004; 101: 1834–1839.
  71. Barrett J.C., Clayton D.G., Concannon P., Akolkar B., Cooper J.D., Erlich H.A., Julier C., Morahan G., Nerup J., Nierras C., Plagnol V., Pociot F., Schuilenburg H., Smyth D.J., Stevens H., Todd J.A., Walker N.M. and Rich S.S. Nat. Genet. 2009; 41: 703–707.
  72. Takaki S., Moruta H., Tezuka Y. and Takatsu K. J. Exp. Med. 2002; 195: 151–160.
  73. Gudbjartsson D.F., Bjorndottir D.F., Halapi E., Helgadottir A., Sulem P., Jonsdottir G.M., Thorleifsson G., Helgadottir H., Stein-thorsdottir V., Stefansson H., Williams C., Hui J., Beilby J., War-rington N.M., James A., Palmer L.J., Koppelman G.H., Heinzmann A., Krueger M., Boezen H.M., Wheatley A., Altmuller J., Shin H.D., Uh S.T., Cheong H.S., Jonsdottir B., Gislason D., Park, C.S., Rasmussen L.M., Porsbjerg C., Hansen J.W., Backer V., Werge T., Janson C., Jönsson U.B., Ng M.C., Chan J., So, W.Y., Ma R., Shah S.H., Granger C.B., Quyyumi A.A., Levey A.I., Vaccarino V., Reilly M.P., Rader D.J., Williams M.J., van Rij A.M., Jones G.T., Trabetti E., Malerba G., Pignatti P.F., Boner A., Pescollderungg L., Girelli D., Olivieri O., Martinelli N., Ludviksson B.R., Ludviksdottir D., Eyjolfsson G.I., Arnar D., Thorgeirsson G., Deichmann K., Thompson P.J., Wjst M., Hall I.P., Postma D.S., Gislason T., Gulcher J., Kong A., Jonsdottir I., Thorsteinsdottir U. and Stefansson K. Nat. Genet. 2009; 41: 342–347.
  74. Rotival M., Zeller T., Wild P.S., Maouche S., Szymczak S., Schillert A., Castagné R., Deiseroth A., Proust C., Brocheton J., Godefroy T., Perret C., Germain M., Eleftheriadis M., Sinning C.R., Schnabel R.B., Lubos E., Lackner K.J., Rossmann H., Münzel T., Rendon A., Erdmann J., Deloukas P., Hengstenberg C., Diemert P., Montalescot G., Ouwehand W.H., Samani N.J., Schunkert H., Tregouet D.A., Ziegler A., Goodall A.H., Cambien F., Tiret L. and Blankenberg S. PLoS Genet. 2011; 7: 1002367.
  75. Myles A., Tuteja A. and Aggarwal A. Rheumatology (Oxford). 2012; 51: 1785–1789.
  76. Hunter P.J., Nistala K., Jina N., Eddaoudi A., Thomson W., Hu-bank M. and Wedderburn L.R. Arthritis Rheum. 2010; 62: 896–907.
  77. Moncrieffe H., Hinks A., Ursu S., Kassoumeri L., Etheridge A., Hubank M., Martin P., Weiler T., Glass D.N., Thompson S.D., Thomson W. and Wedderburn L.R. Pharm. Genomics. 2010; 20: 665–676.
  78. Richardson B., Scheinbart L., Strahler J., Gross L., Hanash S. and Johnson M. Arthritis Rheum. 1990; 33: 1665–1673.
  79. Nile C.J., Read R.C., Akil M., Duff G.W. and Wilson A.G. Arthritis Rheum. 2008; 58: 2686–2693.
  80. Ellis J.A., Munro J.E., Chavez R.A., Gordon L., Joo J.E., Akikusa J.D., Allen R.C., Ponsonby A.L., Craig, J.M. and Saffery R. Clin. Epigenetics. 2012; 4: 20.

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