1
|
Zhong L, Wang W, Li J, Ma M, Gou L, Wang
C, Yu Z, Zhang T, Dong Y, Wei Q and Song H: The association of MEFV
gene mutations with the disease risk and severity of systemic
juvenile idiopathic arthritis. Pediatr Rheumatol Online J.
18(38)2020.PubMed/NCBI View Article : Google Scholar
|
2
|
Bašić J, Vojinović J, Jevtović-Stoimenov
T, Despotović M, Cvetković T, Lazarević D, Sušić G, Milošević V,
Cvetković M and Pavlović D: The association of CAT-262C/T
polymorphism with catalase activity and treatment response in
juvenile idiopathic arthritis. Rheumatol Int. 39:551–559.
2019.PubMed/NCBI View Article : Google Scholar
|
3
|
Simon TA, Harikrishnan GP, Kawabata H,
Singhal S, Brunner HI and Lovell DJ: Prevalence of co-existing
autoimmune disease in juvenile idiopathic arthritis: A
cross-sectional study. Pediatr Rheumatol Online J.
18(43)2020.PubMed/NCBI View Article : Google Scholar
|
4
|
Nigrovic PA, Martínez-Bonet M and Thompson
SD: Implications of juvenile idiopathic arthritis genetic risk
variants for disease pathogenesis and classification. Curr Opin
Rheumatol. 31:401–410. 2019.PubMed/NCBI View Article : Google Scholar
|
5
|
Smerdel A, Lie BA, Ploski R, Koeleman BP,
Førre Ø, Thorsby E and Undlien DE: A gene in the telomeric HLA
complex distinct from HLA-A is involved in predisposition to
juvenile idiopathic arthritis (JIA). Arthritis Rheum. 46:1614–1619.
2002.PubMed/NCBI View Article : Google Scholar
|
6
|
Silvestri AD, Capittini C, Poddighe D,
Marseglia GL, Mascaretti L, Bevilacqua E, Scotti V, Rebuffi C, Pasi
A, Martinetti M and Tinelli C: HLA-DRB1 alleles and juvenile
idiopathic arthritis: Diagnostic clues emerging from a
meta-analysis. Autoimmun Rev. 16:1230–1236. 2017.PubMed/NCBI View Article : Google Scholar
|
7
|
Pazár B, Gergely P, Nagy ZB, Gombos T,
Pozsonyi E, Rajczy K, Balogh Z, Sevcic K, Orbán I, Szodoray P and
Poór G: Role of HLA-DRB1 and PTPN22 genes in susceptibility to
juvenile idiopathic arthritis in Hungarian patients. Clin Exp
Rheumatol. 26:1146–1152. 2008.PubMed/NCBI
|
8
|
Wang Y, Chen LH, Li F, Bao M, Zeng J,
Xiang J, Luo H, Li J and Tang L: TLR4 rs41426344 increases
susceptibility of rheumatoid arthritis (RA) and juvenile idiopathic
arthritis (JIA) in a central south Chinese Han population. Pediatr
Rheumatol Online J. 15(12)2017.PubMed/NCBI View Article : Google Scholar
|
9
|
Sprchez M, Samaca G, Iancu M, Bolba C and
Miu N: Relation of interleukin-6, TNF-alpha and interleukin-1alpha
with disease activity and severity in juvenile idiopathic arthritis
patients. Clin Lab. 58:253–260. 2012.PubMed/NCBI
|
10
|
Tang L, Wang Y, Zheng S, Bao M, Zhang Q
and Li J: PTPN22 polymorphisms, but not R620W, were associated with
the genetic susceptibility of systemic lupus erythematosus and
rheumatoid arthritis in a Chinese Han population. Hum Immunol.
77:692–698. 2016.PubMed/NCBI View Article : Google Scholar
|
11
|
Tang L, Wang Y and Chen BF: A variant
within intron 1 of the PTPN22 gene decreases the genetic
susceptibility of ankylosing spondylitis in a central south Chinese
Han population. Scand J Rheumatol. 43:380–384. 2014.PubMed/NCBI View Article : Google Scholar
|
12
|
Ramirez M, Quintana G, Diaz-Gallo LM,
Caminos J, Garces M, Cepeda L, Rondon F, Restrepo JF, Egea E,
Garavito G, et al: The PTPN22 C1858T variant as a risk factor for
rheumatoid arthritis and systemic lupus erythematosus but not for
systemic sclerosis in the Colombian population. Clin Exp Rheumatol.
30:520–524. 2012.PubMed/NCBI
|
13
|
Goulielmos GN, Chiaroni-Clarke RC,
Dimopoulou DG, Zervou MI, Trachana M, Pratsidou-Gertsi P,
Garyfallos A and Ellis JA: Association of juvenile idiopathic
arthritis with PTPN22 rs2476601 is specific to females in a Greek
population. Pediatr Rheumatol Online J. 14(25)2016.PubMed/NCBI View Article : Google Scholar
|
14
|
Hinks A, Barton A, John S, Hawkins C,
Griffiths CE, Donn R, Thomson W, Silman A and Worthington J:
Association between the PTPN22 gene and rheumatoid arthritis and
juvenile idiopathic arthritis in a UK population: Further support
that PTPN22 is an autoimmunity gene. Arthritis Rheum. 52:1694–1699.
2005.PubMed/NCBI View Article : Google Scholar
|
15
|
Fan ZD, Wang FF, Huang H, Huang N, Ma HH,
Guo YH, Zhang YY, Qian XQ and Yu HG: STAT4 rs7574865 G/T and PTPN22
rs2488457 G/C polymorphisms influence the risk of developing
juvenile idiopathic arthritis in Han Chinese patients. PLoS One.
10(e0117389)2015.PubMed/NCBI View Article : Google Scholar
|
16
|
Hinks A, Eyre S, Ke X, Barton A, Martin P,
Flynn E and Packham J: Childhood Arthritis Prospective Study
(CAPS); UKRAG Consortium; BSPAR Study Group. et al: Overlap of
disease susceptibility loci for rheumatoid arthritis and juvenile
idiopathic arthritis. Ann Rheum Dis. 69:1049–1053. 2010.PubMed/NCBI View Article : Google Scholar
|
17
|
Zhang J: Paradoxical roles of
interferon-gamma in autoimmune disease. Exp Rev Clin Immunol.
3:35–38. 2007.PubMed/NCBI View Article : Google Scholar
|
18
|
Eames HL, Corbin AL and Udalova IA:
Interferon regulatory factor 5 in human autoimmunity and murine
models of autoimmune disease. Transl Res. 167:167–182.
2016.PubMed/NCBI View Article : Google Scholar
|
19
|
Matta B and Barnes BJ: Coordination
between innate immune cells, type I IFNs and IRF5 drives SLE
pathogenesis. Cytokine. 132(154731)2020.PubMed/NCBI View Article : Google Scholar
|
20
|
Chang Y, Xu S and Ding K: Tyrosine kinase
2 (TYK2) allosteric inhibitors to treat autoimmune diseases. J Med
Chem. 62:8951–8952. 2019.PubMed/NCBI View Article : Google Scholar
|
21
|
Tang L, Wan P, Wang Y, Pan B, Wang Y and
Chen B: Genetic association and interaction between the IRF5 and
TYK2 genes and systemic lupus erythematosus in the Han Chinese
population. Inflamm Res. 64:817–824. 2015.PubMed/NCBI View Article : Google Scholar
|
22
|
Peng Y, Chen B, Sheng X and Qian Y:
Polymorphisms in IRF5 and TYK2 genes are associated with rheumatoid
arthritis in a Chinese Han population. Med Sci Monit.
27(e928455)2021.PubMed/NCBI View Article : Google Scholar
|
23
|
Tang L, Chen B, Ma B and Nie S:
Association between IRF5 polymorphisms and autoimmune diseases: A
meta-analysis. Genet Mol Res. 13:4473–4485. 2014.PubMed/NCBI View Article : Google Scholar
|
24
|
ILAR 2001. Abstracts of the 20th congress
of the international league of associations for rheumatology.
Edmonton, Alberta, Canada. August 26-30, 2001. J Rheumatol Suppl.
63:1–120. 2001.PubMed/NCBI
|
25
|
Berntson L, Fasth A, Andersson-Gäre B,
Kristinsson J, Lahdenne P, Marhaug G, Nielsen S, Pelkonen P and
Svensson E: Nordic Study Group. Construct validity of ILAR and
EULAR criteria in juvenile idiopathic arthritis: A population based
incidence study from the Nordic countries. International league of
associations for rheumatology. European league against rheumatism.
J Rheumatol. 28:2737–2743. 2002.PubMed/NCBI
|
26
|
Shi YY and He L: SHEsis, a powerful
software platform for analyses of linkage disequilibrium, haplotype
construction, and genetic association at polymorphism loci. Cell
Res. 15:97–98. 2005.PubMed/NCBI View Article : Google Scholar
|
27
|
Hahn LW, Ritchie MD and Moore JH:
Multifactor dimensionality reduction software for detecting
gene-gene and gene-environment interactions. Bioinformatics.
19:376–382. 2003.PubMed/NCBI View Article : Google Scholar
|
28
|
Kang H: Sample size determination and
power analysis using the G*Power software. J Educ Eval Health Prof.
18(17)2021.PubMed/NCBI View Article : Google Scholar
|
29
|
Bottini N and Peterson EJ: Tyrosine
phosphatase PTPN22: Multifunctional regulator of immune signaling,
development, and disease. Ann Rev Immunol. 32:83–119.
2014.PubMed/NCBI View Article : Google Scholar
|
30
|
Lee YH, Rho YH, Choi SJ, Ji JD, Song GG,
Nath SK and Harley JB: The PTPN22 C1858T functional polymorphism
and autoimmune diseases-a meta-analysis. Rheumatology (Oxford).
46:49–56. 2007.PubMed/NCBI View Article : Google Scholar
|
31
|
Gregersen PK, Lee HS, Batliwalla F and
Begovivh AB: PTPN22: Setting thresholds for autoimmunity. Semin
Immunol. 18:214–223. 2006.PubMed/NCBI View Article : Google Scholar
|
32
|
Carlton V, Hu X, Chokkalingam AP, Schrodi
SJ, Brandon R, Alexander HC, Chang M, Catanese JJ, Leong DU, Ardlie
KG, et al: PTPN22 genetic variation: Evidence for multiple variants
associated with rheumatoid arthritis. Am J Hum Genet. 77:567–581.
2005.PubMed/NCBI View
Article : Google Scholar
|
33
|
Jagiello P, Aries P, Arning L, Wagenleiter
SEN, Csernok E, Hellmich B, Gross WL and Epplen JT: The PTPN22 620W
allele is a risk factor for Wegener's granulomatosis. Arthritis
Rheum. 52:4039–4043. 2005.PubMed/NCBI View Article : Google Scholar
|
34
|
Onengut-Gumuscu S, Ewens KG, Spielman RS
and Concannon P: A functional polymorphism (1858C/T) in the PTPN22
gene is linked and associated with type I diabetes in multiplex
families. Genes Immun. 5:678–680. 2004.PubMed/NCBI View Article : Google Scholar
|
35
|
Skórka A, Bednarczuk T, Bar-Andziak E,
Nauman J and Ploski R: Lymphoid tyrosine phosphatase (PTPN22/LYP)
variant and Graves' disease in a Polish population: Association and
gene dose-dependent correlation with age of onset. Clin Endocrinol
(Oxf). 62:679–682. 2005.PubMed/NCBI View Article : Google Scholar
|
36
|
Wu H, Wan S, Qu M, Ren B, Liu L and Shen
H: The relationship between PTPN22 R620W polymorphisms and the
susceptibility to autoimmune thyroid diseases: An updated
meta-analysis. Immunol Invest. 2:438–451. 2022.PubMed/NCBI View Article : Google Scholar
|
37
|
Thompson SD, Sudman M, Ramos PS, Marion
MC, Ryan M, Tsoras M, Weiler T, Wagner M, Keddache M, Haas JP, et
al: The susceptibility loci juvenile idiopathic arthritis shares
with other autoimmune diseases extend to PTPN2, COG6, and ANGPT1.
Arthritis Rheum. 62:3265–3276. 2010.PubMed/NCBI View Article : Google Scholar
|
38
|
Viken MK, Amundsen SS, Kvien TK, Boberg
KM, Gilboe IM, Lilleby V, Sollid LM, Førre OT, Thorsby E, Smerdel A
and Lie BA: Association analysis of the 1858C/T polymorphism in the
PTPN22 gene in juvenile idiopathic arthritis and other autoimmune
diseases. Genes Immun. 6:271–273. 2005.PubMed/NCBI View Article : Google Scholar
|
39
|
Cinek O, Hradsky O, Ahmedov G, Slavcev A,
Kolouskova S, Kulich M and Sumnik Z: No independent role of the
-1123 G>C and +2740 A>G variants in the association of PTPN22
with type 1 diabetes and juvenile idiopathic arthritis in two
Caucasian populations. Diabetes Res Clin Pract. 76:297–303.
2007.PubMed/NCBI View Article : Google Scholar
|
40
|
Seldin MF, Shigeta R, Laiho K, Li H, Saila
H, Savolainen A, Leirisalo-Repo M, Aho K, Tuomilehto-Wolf E,
Kaarela K, et al: Finnish case-control and family studies support
PTPN22 R620 W polymorphism as a risk factor in rheumatoid
arthritis, but suggest only minimal or no effect in juvenile
idiopathic arthritis. Genes Immun. 6:720–722. 2005.PubMed/NCBI View Article : Google Scholar
|
41
|
Di Y, Zhong S, Wu L, Li Y and Sun N: The
association between PTPN22 Genetic polymorphism and juvenile
idiopathic arthritis (JIA) susceptibility: An updated
meta-analysis. Iran J Public Health. 44:1169–1175. 2015.PubMed/NCBI
|
42
|
Lee YH, Bae SC and Song GG: The
association between the functional PTPN22 1858 C/T and MIF 173 C/G
polymorphisms and juvenile idiopathic arthritis: A meta-analysis.
Inflamm Res. 61:411–415. 2012.PubMed/NCBI View Article : Google Scholar
|
43
|
Hinks A, Worthington J and Thomson W: The
association of PTPN22 with rheumatoid arthritis and juvenile
idiopathic arthritis. Rheumatology (Oxford). 45:365–368.
2006.PubMed/NCBI View Article : Google Scholar
|
44
|
Baralle D and Baralle M: Splicing in
action: Assessing disease causing sequence changes. J Med Genet.
42:737–748. 2005.PubMed/NCBI View Article : Google Scholar
|
45
|
Buratti E, Baralle M and Baralle FE:
Defective splicing, disease and therapy: Searching for master
checkpoints in exon definition. Nucleic Acids Res. 34:3494–3510.
2006.PubMed/NCBI View Article : Google Scholar
|
46
|
Schoenemeyer A, Barnes BJ, Mancl ME, Latz
E, Goutagny N, Pitha PM, Fitzgerald KA and Golenbock DT: The
interferon regulatory factor, IRF5, is a central mediator of
toll-like receptor 7 signaling. J Biol Chem. 280:17005–17012.
2005.PubMed/NCBI View Article : Google Scholar
|
47
|
Takaoka A, Yanai H, Kondo S, Duncan G,
Negishi H, Mizutani T, Kano SI, Honda K, Ohba Y, Mak TW and
Taniguchi T: Integral role of IRF-5 in the gene induction programme
activated by toll-like receptors. Nature. 434:243–249.
2005.PubMed/NCBI View Article : Google Scholar
|
48
|
Miceli-Richard C, Comets E, Loiseau P,
Puechal X, Hachulla E and Mariette X: Association of an IRF5 gene
functional polymorphism with Sjgren's syndrome. Arthritis Rheum.
56:3989–3994. 2007.PubMed/NCBI View Article : Google Scholar
|
49
|
Tada Y, Kondo S, Aoki S, Koarada S, Inoue
H, Suematsu R, Ohta A, Mak TW and Nagasawa K: Interferon regulatory
factor 5 is critical for the development of lupus in MRL/lpr mice.
Arthritis Rheum. 63:738–748. 2011.PubMed/NCBI View Article : Google Scholar
|
50
|
Graham DS, Manku H, Wagner S, Reid J,
Timms K, Gutin A, Lanchbury JS and Vyse TJ: Association of IRF5 in
UK SLE families identifies a variant involved in polyadenylation.
Hum Mol Genet. 16:579–591. 2007.PubMed/NCBI View Article : Google Scholar
|
51
|
Kristjansdottir G, Sandling JK, Bonetti A,
Roos IM, Milani L, Wang C, Gustafsdottir SM, Sigurdsson S, Lundmark
A, Tienari PJ, et al: Interferon regulatory factor 5 (IRF5) gene
variants are associated with multiple sclerosis in three distinct
populations. J Med Genet. 45:362–369. 2008.PubMed/NCBI View Article : Google Scholar
|
52
|
Reykande SE, Rezaei A, Sadr M, Shabani M,
Varzaneh FN, Ziaee V and Rezaei N: Association of interferon
regulatory factor 5 (IRF5) gene polymorphisms with juvenile
idiopathic arthritis. Clin Rheum. 37:2661–2665. 2018.PubMed/NCBI View Article : Google Scholar
|
53
|
Fedorov ES, Krylov MY, Salugina SO,
Samarkina EY and Latypova AN: STAT4 rs7574865 G/T and IRF5
rs2004640 G/T polymorphisms as markers of predisposition to
juvenile idiopathic arthritis. What can genetics give to understand
its heterogeneity? Modern Rheumatol J. 13:55–60. 2019.
|
54
|
Schindler C, Levy DE and Decker T:
JAK-STAT signaling: From interferons to cytokines. J Biol Chem.
282:20059–20063. 2007.PubMed/NCBI View Article : Google Scholar
|
55
|
Kisseleva T, Bhattacharya S, Braunstein J
and Schindler CW: Signaling through the JAK/STAT pathway, recent
advances and future challenges. Gene. 285:1–24. 2002.PubMed/NCBI View Article : Google Scholar
|
56
|
Chong WP, Ip WK, Wong WHS, Lau CS, Chan TM
and Lau YL: Association of interleukin-10 promoter polymorphisms
with systemic lupus erythematosus. Genes Immun. 5:484–492.
2004.PubMed/NCBI View Article : Google Scholar
|
57
|
Shaw MH, Boyartchuk V, Wang S,
Karaghiosoff M, Ragimbeau J, Pellegrini S, Muller M, Dietrich WF
and Yap GS: A natural mutation in the Tyk2 pseudokinase domain
underlies altered susceptibility of B10.Q/J mice to infection and
autoimmunity. Proc Natl Acad Sci USA. 100:11594–11599.
2003.PubMed/NCBI View Article : Google Scholar
|
58
|
Kyogoku C, Morinobu A, Nishimura K,
Sugiyama D, Hashimoto H, Tokano Y, Mimori T, Terao C, Matsuda F,
Kuno T and Kumagai S: Lack of association between tyrosine kinase 2
(TYK2) gene polymorphisms and susceptibility to SLE in a Japanese
population. Mod Rheumatol. 19:401–406. 2009.PubMed/NCBI View Article : Google Scholar
|
59
|
Mohamadhosseini A, Mansouri R, Javinani A,
Ganjouei AA, Akhlaghi M, Aslani S, Hamzeh E, Jamshidi A, Ahmadzadeh
N and Mahmoudi M: Single nucleotide polymorphism of TYK2 gene and
susceptibility to rheumatoid arthritis in iranian population.
Avicenna J Med Biotechnol. 11:187–191. 2019.PubMed/NCBI
|
60
|
Graham D, Akil M and Vyse TJ: Association
of polymorphisms across the tyrosine kinase gene, TYK2 in UK SLE
families. Rheumatology (Oxford). 46:927–930. 2007.PubMed/NCBI View Article : Google Scholar
|
61
|
Li P, Chang YK, Shek KW and Lau YL: Lack
of association of TYK2 gene polymorphisms in Chinese patients with
systemic lupus erythematosus. J Rheumatol. 38:177–178.
2011.PubMed/NCBI View Article : Google Scholar
|
62
|
Zervou M, Dimopoulou DG, Eliopoulos E,
Trachana M, Pratsidou-Gkertsi P, Andreou A, Sidiropoulos P,
Spandidos DA, Garyfallos A and Goulielmos GN: Τhe genetics of
juvenile idiopathic arthritis: Searching for new susceptibility
loci. Mol Med Rep. 16:8793–8798. 2017.PubMed/NCBI View Article : Google Scholar
|