Juvenile idiopathic arthritis subtype- and sex-specific associations with genetic variants in the PSMA6/PSMC6/PSMA3 gene cluster

Pediatrics and Neonatology

Volumn 55, Issue 5, 2014, Pages 393-403

  Sjakste, Tatjana ^a   Paramonova, Natalia ^a   Rumba Rozenfelde, Ingrida ^a   Trapina, Ilva ^b   Sugoka, Olga ^a   Sjakste, Nikolajs ^a,b  

^a UNIVERSITY OF LATVIA   (Latvia)

^b LATVIAN INSTITUTE OF ORGANIC SYNTHESIS   (Latvia)

Author keywords

genotype sex interaction; juvenile idiopathic arthritis; plasma proteasome; polymorphism; PSMA3; PSMA6; PSMC6

Indexed keywords

DNA; MICRORNA; PROTEASOME; TRANSCRIPTION FACTOR;

ADOLESCENT; ALLELE; ARTHRITIS; ARTICLE; CASE CONTROL STUDY; CHILD; COHORT ANALYSIS; CONTROLLED STUDY; DNA EXTRACTION; ENZYME BLOOD LEVEL; FEMALE; GENE CLUSTER; GENE LOCUS; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; JUVENILE RHEUMATOID ARTHRITIS; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; POLYARTHRITIS; PSMA3 GENE; PSMA6 GENE; PSMB5 GENE; PSMC6 GENE; SEX DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM; BLOOD; CLASSIFICATION; ENZYMOLOGY; GENETIC PREDISPOSITION; GENETICS; MULTIGENE FAMILY; ODDS RATIO;

ARTHRITIS, JUVENILE; CHILD; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MULTIGENE FAMILY; ODDS RATIO; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEASOME ENDOPEPTIDASE COMPLEX;

EID: 84908030844     PISSN: 18759572     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pedneo.2014.01.007     Document Type: Article

References (40)

1. A. Ravelli, and A. Martini Juvenile idiopathic arthritis Lancet 369 2007 767 778
2. R.E. Petty, T.R. Southwood, P. Manners, J. Baum, D.N. Glass, and J. Goldenberg International League of Associations for Rheumatology classification of juvenile idiopathic arthritis: second revision, Edmonton, 2001 J Rheumatol 31 2004 390 392
3. S. Prahalad, and D.N. Glass A comprehensive review of the genetics of juvenile idiopathic arthritis Pediatr Rheumatol Online J 6 2008 11
4. S.D. Thompson, M.G. Barnes, T.A. Griffin, A.A. Grom, and D.N. Glass Heterogeneity in juvenile idiopathic arthritis: impact of molecular profiling based on DNA polymorphism and gene expression patterns Arthritis Rheum 62 2010 2611 2615
5. S. Sivakumaran, F. Agakov, E. Theodoratou, J.G. Prendergast, L. Zgaga, and T. Manolio Abundant pleiotropy in human complex diseases and traits Am J Hum Genet 89 2011 607 618
6. P.M. Kloetzel Antigen processing by the proteasome Nat Rev Mol Cell Biol 2 2001 179 187
7. Y. Sutoh, M. Kondo, Y. Ohta, T. Ota, U. Tomaru, and M.F. Flajnik Comparative genomic analysis of the proteasome β5t subunit gene: implications for the origin and evolution of thymoproteasomes Immunogenetics 64 2012 49 58
8. K. Egerer, U. Kuckelkorn, P.E. Rudolph, J.C. Rückert, T. Dörner, and G.R. Burmester Circulating proteasomes are markers of cell damage and immunologic activity in autoimmune diseases J Rheumatol 29 2002 2045 2052
9. L. Henry, L. Le Gallic, G. Garcin, O. Coux, N. Jumez, and P. Roger Proteolytic activity and expression of the 20S proteasome are increased in psoriasis lesional skin Br J Dermatol 165 2011 311 320
10. E. Feist, T. Dörner, U. Kuckelkorn, G. Schmidtke, B. Micheel, and F. Hiepe Proteasome alpha-type subunit C9 is a primary target of autoantibodies in sera of patients with myositis and systemic lupus erythematosus J Exp Med 184 1996 1313 1318
11. E. Feist, U. Kuckelkorn, T. Dörner, H. Dönitz, S. Scheffler, and F. Hiepe Autoantibodies in primary Sjögren's syndrome are directed against proteasomal subunits of the alpha and beta type Arthritis Rheum 42 1999 697 702
12. A. Voigt, K. Bartel, K. Egerer, C. Trimpert, E. Feist, and C. Gericke Humoral anti-proteasomal autoimmunity in dilated cardiomyopathy Basic Res Cardiol 105 2010 9 18
13. J. Arribas, M. Luz Rodríguez, R. Alvarez-Do Forno, and J.G. Castaño Autoantibodies against the multicatalytic proteinase in patients with systemic lupus erythematosus J Exp Med 173 1991 423 427
14. I. Colmegna, B. Sainz Jr., G. Citera, J.A. Maldonado-Cocco, R.F. Garry, and L.R. Espinoza Anti-20S proteasome antibodies in psoriatic arthritis J Rheumatol 35 2008 674 676
15. N. Fissolo, M. Kraus, M. Reich, M. Ayturan, H. Overkleeft, and C. Driessen Dual inhibition of proteasomal and lysosomal proteolysis ameliorates autoimmune central nervous system inflammation Eur J Immunol 38 2008 2401 2411
16. A.S. Ahmed, J. Li, M. Ahmed, L. Hua, T. Yakovleva, and M.H. Ossipov Attenuation of pain and inflammation in adjuvant-induced arthritis by the proteasome inhibitor MG132 Arthritis Rheum 62 2010 2160 2169
17. R. Arya, E. Hare, I. Del Rincon, C.P. Jenkinson, R. Duggirala, and L. Almasy Effects of covariates and interactions on a genome-wide association analysis of rheumatoid arthritis BMC Proc 3 2009 S84
18. D. Burgner, S. Davila, W.B. Breunis, S.B. Ng, Y. Li, and C. Bonnard A genome-wide association study identifies novel and functionally related susceptibility loci for Kawasaki disease PLoS Genet 5 2009 e1000319
19. D.A. Chistyakov, K.V. Savost'anov, R.I. Turakulov, and V.V. Nosikov Genetic determinants of Graves disease Mol Genet Metab 71 2000 66 69
20. F. Cornélis, S. Fauré, M. Martinez, J.F. Prud'homme, P. Fritz, and C. Dib New susceptibility locus for rheumatoid arthritis suggested by a genome-wide linkage study Proc Natl Acad Sci U S A 95 1998 10746 10750
21. P.E. Stuart, R.P. Nair, E. Ellinghaus, J. Ding, T. Tejasvi, and J.E. Gudjonsson Genome-wide association analysis identifies three psoriasis susceptibility loci Nat Genet 42 2010 1000 1004
22. Y. Tomer, and T.F. Davies The genetic susceptibility to Graves' disease Baillieres Clin Endocrinol Metab 11 1997 431 450
23. T. Sjakste, J. Eglite, A. Sochnevs, M. Marga, V. Pirags, and Y. Collan Microsatellite genotyping of chromosome 14q13.2-14q13 in the vicinity of proteasomal gene PSMA6 and association with Graves' disease in the Latvian population Immunogenetics 56 2004 238 243
24. T. Sjakste, I. Trapina, I. Rumba-Rozenfelde, R. Lunin, and N. Sugoka O,Sjakste Identification of a novel candidate locus for juvenile idiopathic arthritis at 14q13.2 in the Latvian population by association analysis with microsatellite markers DNA Cell Biol 29 2010 543 551
25. T. Lavabre-Bertrand, L. Henry, S. Carillo, I. Guiraud, A. Ouali, and D. Dutaud Plasma proteasome level is a potential marker in patients with solid tumors and hemopoietic malignancies Cancer 92 2001 2493 2500
26. P.E. Stoebner, T. Lavabre-Bertrand, L. Henry, I. Guiraud, S. Carillo, and M. Dandurand High plasma proteasome levels are detected in patients with metastatic malignant melanoma Br J Dermatol 152 2005 948 953
27. A. Minagar, W. Ma, X. Zhang, X. Wang, K. Zhang, and J.S. Alexander Plasma ubiquitin-proteasome system profile in patients with multiple sclerosis: correlation with clinical features, neuroimaging, and treatment with interferon-beta-1b Neurol Res 34 2012 611 618
28. Q. Wang, M. Maillard, U. Schibler, M. Burnier, and F. Gachon Cardiac hypertrophy, low blood pressure, and low aldosterone levels in mice devoid of the three circadian PAR bZip transcription factors DBP, HLF, and TEF Am J Physiol Regul Integr Comp Physiol 299 2010 R1013 R1019
29. V. Male, I. Nisoli, D.M. Gascoyne, and H.J. Brady E4BP4: an unexpected player in the immune response Trends Immunol 33 2012 98 102
30. F. Elefteriou, J.D. Ahn, S. Takeda, M. Starbuck, X. Yang, and X. Liu Leptin regulation of bone resorption by the sympathetic nervous system and CART Nature 434 2005 514 520
31. M. Dozmorov, W. Wu, K. Chakrabarty, J.L. Booth, R.E. Hurst, and K.M. Coggeshall Gene expression profiling of human alveolar macrophages infected by B. anthracis spores demonstrates TNF-alpha and NF-kappab are key components of the innate immune response to the pathogen BMC Infect Dis 9 2009 152
32. N.I. Arbouzova, E.A. Bach, and M.P. Zeidler Ken & barbie selectively regulates the expression of a subset of Jak/STAT pathway target genes Curr Biol 16 2006 80 88
33. K. Furukawa, T. Iioka, M. Morishita, A. Yamaguchi, H. Shindo, and H. Namba Functional domains of paired-like homeoprotein Cart1 and the relationship between dimerization and transcription activity Genes Cells 7 2002 1135 1147
34. G.N. Gill Decoding the LIM development code Trans Am Clin Climatol Assoc 114 2003 179 189
35. K. Phillips, and B. Luisi The virtuoso of versatility: POU proteins that flex to fit J Mol Biol 302 2000 1023 1039
36. H. She, and Z. Mao Regulation of myocyte enhancer factor-2 transcription factors by neurotoxins Neurotoxicology 32 2011 563 566
37. A. Uzumcu, B. Karaman, G. Toksoy, Z.O. Uyguner, S. Candan, and H. Eris Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome Eur J Med Genet 52 2009 315 320
38. B. Ho, G. Olson, S. Figel, I. Gelman, W.G. Cance, and V.M. Golubovskaya Nanog increases focal adhesion kinase (FAK) promoter activity and expression and directly binds to FAK protein to be phosphorylated J Biol Chem 287 2012 18656 18673
39. C.V. Clower, D. Chatterjee, Z. Wang, L.C. Cantley, M.G. Vander Heiden, and A.R. Krainer The alternative splicing repressors hnRNP A1/A2 and PTB influence pyruvate kinase isoform expression and cell metabolism Proc Natl Acad Sci U S A 107 2010 1894 1899
40. G. Michlewski, S. Guil, and J.F. Cáceres Stimulation of pri-miR-18a processing by hnRNP A1 Adv Exp Med Biol 700 2010 28 35