PDCD1 Single Nucleotide Polymorphisms in Iranian Patients With Juvenile Idiopathic Arthritis
-
Mahdi Mahmoudi
,
Alireza Rezaiemanesh
,
Sara Harsini
,
Arash Salmaninejad
,
Shiva Poursani
,
Tayyeb Bahrami
,
Vahid Ziaee
,
Nima Rezaei
Abstract
Juvenile idiopathic arthritis (JIA) is a clinically heterogeneous cluster of complex diseases, in which both the genetic and environmental factors seem to play a role in the development of the disease. The current study aims to assess the association of programmed cell death 1 (PDCD1, also called PD-1) gene variants with JIA vulnerability in Iranian population. In this case-control association study, we investigated a group of 50 Iranian patients with JIA in comparison with 202 healthy controls and evaluated the frequency of alleles, genotypes, and haplotypes of PDCD1 single-nucleotide polymorphisms (SNPs), comprising PD-1.1 G/A, PD-1.3 G/A and PD-1.9 C/T, using PCR-RFLP method. Both the allelic and genotype frequencies of PD-1.1, PD-1.3 and PD-1.9 were similar in two groups of patients and controls. Moreover, no significant difference was observed between the two groups of patients and controls for GGC (PD-1.1 G, PD-1.3 G, PD-1.9 C), GAC (PD-1.1 G, PD-1.3 A, PD-1.9 C), and AGT (PD-1.1 A, PD-1.3 G, PD-1.9 T) haplotypes. Our results did not show any association between PDCD1 SNPs and the development of JIA in Iranian population.
Fife MS, Gutierrez A, Ogilvie EM, Stock CJ, Samuel JM, Thomson W, et al. Novel IL10 gene family associations with systemic juvenile idiopathic arthritis. Arthritis Res Ther 2006;8:R148.
Freeman GJ, Long AJ, Iwai Y, Bourque K, Chernova T, Nishimura H, et al. Engagement of the PD-1 immunoinhibitory receptor by a novel B7 family member leads to negative regulation of lymphocyte activation. J Exp Med 2000;192:1027-34.
Kong EKP, Prokunina‐Olsson L, Wong WHS, Lau CS, Chan TM, Alarcón‐Riquelme M, et al. A new haplotype of PDCD1 is associated with rheumatoid arthritis in Hong Kong Chinese. Arthritis Rheum 2005;52:1058-62.
Keir ME, Butte MJ, Freeman GJ, Sharpe AH. PD-1 and its ligands in tolerance and immunity. Annu Rev Immunol 2008;26:677-704.
Bennett F, Luxenberg D, Ling V, Wang I-M, Marquette K, Lowe D, et al. Program death-1 engagement upon TCR activation has distinct effects on costimulation and cytokine-driven proliferation: attenuation of ICOS, IL-4, and IL-21, but not CD28, IL-7, and IL-15 responses. J Immunol 2003;170:711-8.
Prokunina L, Castillejo-López C, Öberg F, Gunnarsson I, Berg L, Magnusson V, et al. A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans. Nat Genet 2002;32:666-9.
Prokunina L, Padyukov L, Bennet A, De Faire U, Wiman B, Prince J, et al. Association of the PD‐1.3 A allele of the PDCD1 gene in patients with rheumatoid arthritis negative for rheumatoid factor and the shared epitope. Arthritis Rheum 2004;50:1770-3.
Lin SC, Yen JH, Tsai JJ, Tsai WC, Ou TT, Liu HW, et al. Association of a programmed death 1 gene polymorphism with the development of rheumatoid arthritis, but not systemic lupus erythematosus. Arthritis Rheum 2004;50:770-5.
Petty RE, Southwood TR, Manners P, Baum J, Glass DN, Goldenberg J, et al. International League of Associations for Rheumatology classification of juvenile idiopathic arthritis: second revision, Edmonton, 2001. J Rheumatol 2004;31:390.
BA, Crabtree J, Khan A. Methods for DNA isolation. Part III. Protocols for recombinant DNA isolation, cloning, and sequencing [Internet edition] Norman, OK: University of Oklahoma. 1995:2488-98.
Köchl S, Niederstätter H, Parson W. DNA extraction and quantitation of forensic samples using the phenol-chloroform method and real-time PCR. Methods Mol Biol 2005;297:13-30.
Yong Y, Lin H. SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci. Cell Res 2005;15:97-8.
Balding DJ. A tutorial on statistical methods for population association studies. Nature Rev Genet 2006;7(10):781-91.
Benjamini Y, Hochberg Y. Controlling the false discovery rate: a practical and powerful approach to multiple testing. J R Stat Soc Series B Stat Methodol 1995:289-300.
Velázquez-Cruz R, Orozco L, Espinosa-Rosales F, Carreno-Manjarrez R, Solís-Vallejo E, Lopez-Lara ND, et al. Association of PDCD1 polymorphisms with childhood-onset systemic lupus erythematosus. Eur J Hum Genet 2007;15:336-41.
Rezaei A, Ziaee V, Sharabian FT, Harsini S, Mahmoudi M, Soltani S, et al. Lack of association between interleukin-10, transforming growth factor-beta gene polymorphisms
and juvenile-onset systemic lupus erythematosus. Clin Rheumatol 2015;34:1059-64.
71 . Ziaee V, Tahghighi F, Moradinejad MH, Harsini S, Mahmoudi M, Rezaei A, et al. Interleukin-6, interleukin-1 gene cluster and interleukin-1 receptor polymorphisms in Iranian patients with juvenile systemic lupus erythematosus. Eur Cytokine Netw 2014;25:35-40.
Mahmoudi M, Tahghighi F, Ziaee V, Harsini S, Rezaei A, Soltani S, et al. Interleukin-4 single nucleotide polymorphisms in juvenile systemic lupus erythematosus. Int J Immunogenet 2014;41:512-7.
Baca V, Velazquez-Cruz R, Salas-Martinez G, Espinosa-Rosales F, Saldana-Alvarez Y, Orozco L. Association analysis of the PTPN22 gene in childhood-onset systemic lupus erythematosus in Mexican population. Genes Immun 2006;7:693-5.
Liao CH, Yao TC, Chung HT, See LC, Kuo ML, Huang JL. Polymorphisms in the promoter region of RANTES and the regulatory region of monocyte chemoattractant protein-1 among Chinese children with systemic lupus erythematosus. J Rheumatol 2004;31:2062-7.
Maddah M, Harsini S, Rezaei A, Sadr M, Zoghi S, Moradinejad MH, et al. Association of Interleukin-2, but not Interferon-Gamma, single nucleotide polymorphisms with juvenile idiopathic arthritis. Allergol Immunopathol (Madr) 2016;44:303-6.
Ziaee V, Rezaei A, Harsini S, Maddah M, Zoghi S, Sadr M, et al. Polymorphisms of genes encoding interleukin-4 and its receptor in Iranian patients with juvenile idiopathic arthritis. Clin Rheumatol 2016;35:1943-8.
Tahghighi F, Ziaee V, Moradinejad MH, Rezaei A, Harsini S, Soltani S, et al. Tumor necrosis factor-alpha single nucleotide polymorphisms in juvenile systemic lupus erythematosus. Hum Immunol 2015;76:533-6.
Mahmoudi M, Rezaiemanesh A, Salmaninejad A, Harsini S, Poursani S, Bahrami T, et al. PDCD1 single nucleotide genes polymorphisms confer susceptibility to juvenile-onset systemic lupus erythematosus. Autoimmunity 2015;48:488-93.
Harsini S, Ziaee V, Tahghighi F, Mahmoudi M, Rezaei A, Soltani S, et al. Association of interleukin-2 and interferon-gamma single nucleotide polymorphisms with Juvenile systemic lupus erythematosus. Allergol Immunopathol (Madr) 2016;44:422-6
Liu C, Jiang J, Gao L, Hu X, Wang F, Shen Y, et al. A Promoter Region Polymorphism in PDCD-1 Gene Is Associated with Risk of Rheumatoid Arthritis in the Han Chinese Population of Southeastern China. Int J Genom 2014;2014:247637.
Raptopoulou AP, Bertsias G, Makrygiannakis D, Verginis P, Kritikos I, Tzardi M, et al. The programmed death 1/programmed death ligand 1 inhibitory pathway is up-regulated in rheumatoid synovium and regulates peripheral T cell responses in human and murine arthritis. Arthritis rheum 2010;62:1870-80.
Hatachi S, Iwai Y, Kawano S, Morinobu S, Kobayashi M, Koshiba M, et al. CD4+ PD-1+ T cells accumulate as unique anergic cells in rheumatoid arthritis synovial fluid. J Rheumatol 2003;30:1410-9.
Okazaki T, Honjo T. PD-1 and PD-1 ligands: from discovery to clinical application. Int Immunol 2007;19:813-24.
Prokunina L, Castillejo-Lopez C, Oberg F, Gunnarsson I, Berg L, Magnusson V, et al. A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans. Nat Genet 2002;32:666-9.
Iwamoto T, Ikari K, Inoue E, Toyama Y, Hara M, Yamanaka H, et al. Failure to confirm association between PDCD1 polymorphisms and rheumatoid arthritis in a Japanese population. J Hum Genet 2007;52:557-60.
Kong EK, Prokunina-Olsson L, Wong WH, Lau CS, Chan TM, Alarcon-Riquelme M, et al. A new haplotype of PDCD1 is associated with rheumatoid arthritis in Hong Kong Chinese. Arthritis Rheum 2005;52:1058-62.
Prokunina L, Padyukov L, Bennet A, de Faire U, Wiman B, Prince J, et al. Association of the PD-1.3A allele of the PDCD1 gene in patients with rheumatoid arthritis negative for rheumatoid factor and the shared epitope. Arthritis Rheumatism 2004;50:1770-3.
Tahoori MT, Pourfathollah AA, Akhlaghi M, Daneshmandi S, Nicknam MH, Soleimanifar N. Association of programmed cell death-1 (PDCD-1) gene polymorphisms with rheumatoid arthritis in Iranian patients. Clin Exp Rheumatol 2011;29:763-7
| Files | ||
| Issue | Vol 55, No 11 (2017) | |
| Section | Original Article(s) | |
| Keywords | ||
| PD-1 Single nucleotide polymorphism Juvenile idiopathic arthritis Children Autoimmunity | ||
| Rights and permissions | |
|
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
