The associations between PD-1, CTLA-4 gene polymorphisms and susceptibility to ankylosing spondylitis: a meta-analysis and systemic review

Rheumatology International

Volumn 36, Issue 1, 2016, Pages 33-44

  Chen, Si ^a   Li, Yuan ^a   Deng, Chuiwen ^a   Li, Jing ^a   Wen, Xiaoting ^a   Wu, Ziyan ^a   Hu, Chaojun ^a   Zhang, Shulan ^a   Li, Ping ^a   Zhang, Xuan ^a   Zhang, Fengchun ^a   Li, Yongzhe ^a  

^a PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

Author keywords

Ankylosing spondylitis; CTLA 4; Meta analysis; PD 1; Polymorphisms

Indexed keywords

CYTOSINE; CYTOTOXIC T LYMPHOCYTE ANTIGEN 4; PROGRAMMED DEATH 1 LIGAND 1; THYMINE; PDCD1 PROTEIN, HUMAN; PROGRAMMED DEATH 1 RECEPTOR;

ALLELISM; ANKYLOSING SPONDYLITIS; ARTICLE; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; MARKER GENE; META ANALYSIS; PRIORITY JOURNAL; RISK ASSESSMENT; SYSTEMATIC REVIEW; ALLELE; GENETIC PREDISPOSITION; GENETICS; SINGLE NUCLEOTIDE POLYMORPHISM;

ALLELES; CTLA-4 ANTIGEN; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROGRAMMED CELL DEATH 1 RECEPTOR; SPONDYLITIS, ANKYLOSING;

EID: 84953837002     PISSN: 01728172     EISSN: 1437160X     Source Type: Journal    
DOI: 10.1007/s00296-015-3327-9     Document Type: Article

References (44)

1. Brown MA, Wordsworth BP, Reveille JD (2002) Genetics of ankylosing spondylitis. Clin Exp Rheumatol 20:S43–S49
2. Ng SC, Liao Z, Yu DT et al (2007) Epidemiology of spondyloarthritis in the People’s Republic of China: review of the literature and commentary. Semin Arthritis Rheum 37:39–47
3. Dean LE, Jones GT, MacDonald AG et al (2014) Global prevalence of ankylosing spondylitis. Rheumatology 53:650–657 (Oxford)
4. Brown MA, Laval SH, Brophy S et al (2000) Recurrence risk modelling of the genetic susceptibility to ankylosing spondylitis. Ann Rheum Dis 59:883–886
5. Brewerton DA, Hart FD, Nicholls A et al (1973) Ankylosing spondylitis and HL-A 27. Lancet 1:904–907
6. Brown MA, Kennedy LG, Darke C et al (1998) The effect of HLA-DR genes on susceptibility to and severity of ankylosing spondylitis. Arthritis Rheum 41:460–465
7. Duan Z, Pan F, Zeng Z et al (2012) Interleukin-23 receptor genetic polymorphisms and ankylosing spondylitis susceptibility: a meta-analysis. Rheumatol Int 32:1209–1214
8. Prokunina L, Castillejo-Lopez C, Oberg F et al (2002) A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans. Nat Genet 32:666–669
9. Nishimura H, Okazaki T, Tanaka Y et al (2001) Autoimmune dilated cardiomyopathy in PD-1 receptor-deficient mice. Science 291:319–322
10. Nishimura H, Honjo T (2001) PD-1: an inhibitory immunoreceptor involved in peripheral tolerance. Trends Immunol 22:265–268
11. Latchman Y, Wood CR, Chernova T et al (2001) PD-L2 is a second ligand for PD-1 and inhibits T cell activation. Nat Immunol 2:261–268
12. Freeman GJ, Long AJ, Iwai Y et al (2000) Engagement of the PD-1 immunoinhibitory receptor by a novel B7 family member leads to negative regulation of lymphocyte activation. J Exp Med 192:1027–1034
13. Ansari MJ, Salama AD, Chitnis T et al (2003) The programmed death-1 (PD-1) pathway regulates autoimmune diabetes in nonobese diabetic (NOD) mice. J Exp Med 198:63–69
14. Salama AD, Chitnis T, Imitola J et al (2003) Critical role of the programmed death-1 (PD-1) pathway in regulation of experimental autoimmune encephalomyelitis. J Exp Med 198:71–78
15. Greenwald RJ, Oosterwegel MA, van der Woude D et al (2002) CTLA-4 regulates cell cycle progression during a primary immune response. Eur J Immunol 32:366–373
16. Lee YH, Harley JB, Nath SK (2005) CTLA-4 polymorphisms and systemic lupus erythematosus (SLE): a meta-analysis. Hum Genet 116:361–367
17. Liu X, Hu LH, Li YR et al (2011) Programmed cell death 1 gene polymorphisms is associated with ankylosing spondylitis in Chinese Han population. Rheumatol Int 31:209–213
18. Qian BP, Wang XQ, Qiu Y et al (2013) An exon polymorphism of programmed cell death 1 gene is associated with both the susceptibility and thoracolumbar kyphosis severity of ankylosing spondylitis in a Chinese Han population. J Orthop Sci 18:514–518
19. Soleimanifar N, Amirzargar AA, Mahmoudi M et al (2011) Study of programmed cell death 1 (PDCD1) gene polymorphims in Iranian patients with ankylosing spondylitis. Inflammation 34:707–712
20. Lee SH, Lee YA, Woo DH et al (2006) Association of the programmed cell death 1 (PDCD1) gene polymorphism with ankylosing spondylitis in the Korean population. Arthritis Res Ther 8:R163
21. Yang Q, Liu Y, Liu D et al (2011) Association of polymorphisms in the programmed cell death 1 (PD-1) and PD-1 ligand genes with ankylosing spondylitis in a Chinese population. Clin Exp Rheumatol 29:13–18
22. Huang CH, Wei JC, Chen CC et al (2014) Associations of the PTPN22 and CTLA-4 genetic polymorphisms with Taiwanese ankylosing spondylitis. Rheumatol Int 34:683–691
23. Azizi E, Massoud A, Amirzargar AA et al (2010) Association of CTLA4 gene polymorphism in Iranian patients with ankylosing spondylitis. J Clin Immunol 30:268–271
24. Lee WY, Chang YH, Lo MK et al (2010) Polymorphisms of cytotoxic T lymphocyte-associated antigen-4 and cytokine genes in Taiwanese patients with ankylosing spondylitis. Tissue Antigens 75:119–126
25. Higgins JP, Thompson SG, Deeks JJ et al (2003) Measuring inconsistency in meta-analyses. BMJ 327:557–560
26. Brittain EH, Fay MP, Follmann DA (2012) A valid formulation of the analysis of noninferiority trials under random effects meta-analysis. Biostatistics 13:637–649
27. Chootrakool H, Shi JQ, Yue R (2011) Meta-analysis and sensitivity analysis for multi-arm trials with selection bias. Stat Med 30:1183–1198
28. Sterne JA, Egger M, Smith GD (2001) Systematic reviews in health care: investigating and dealing with publication and other biases in meta-analysis. BMJ 323:101–105
29. Munafo MR, Clark TG, Flint J (2004) Assessing publication bias in genetic association studies: evidence from a recent meta-analysis. Psychiatry Res 129:39–44
30. Chen X, Zhou X, Li X et al (2014) Effects of Tumor Necrosis Factor Inhibitor on Serum Level of HLA-B27 and PDCD-1 in Patients with Ankylosing Spondylitis. Cell Biochem Biophys 70:1453–1457
31. Bautista-Caro MB, Arroyo-Villa I, Castillo-Gallego C et al (2014) Decreased frequencies of circulating Follicular Helper T Cell counterparts and plasmablasts in Ankylosing Spondylitis patients naive for TNF blockers. PLoS One 9:e107086
32. Xiao F, Zhang HY, Liu YJ et al (2013) Higher frequency of peripheral blood interleukin 21 positive follicular helper T cells in patients with ankylosing spondylitis. J Rheumatol 40:2029–2037
33. Chen MH, Chen WS, Lee HT et al (2011) Inverse correlation of programmed death 1 (PD-1) expression in T cells to the spinal radiologic changes in Taiwanese patients with ankylosing spondylitis. Clin Rheumatol 30:1181–1187
34. Bleil J, Maier R, Hempfing A et al (2014) Histomorphologic and histomorphometric characteristics of zygapophyseal joint remodeling in ankylosing spondylitis. Arthritis Rheumatol 66:1745–1754
35. Huang ZX, Tan JH, Li TW et al (2013) Influence of sinomenine on protein profiles of peripheral blood mononuclear cells from ankylosing spondylitis patients: a pharmacoproteomics study. Chin Med J 126:3645–3650 (Engl)
36. Britanova OV, Staroverov DB, Chkalina AV et al (2011) Single high-dose treatment with glucosaminyl-muramyl dipeptide is ineffective in treating ankylosing spondylitis. Rheumatol Int 31:1101–1103
37. Yang ZX, Liang Y, Zhu Y et al (2007) Increased expression of Toll-like receptor 4 in peripheral blood leucocytes and serum levels of some cytokines in patients with ankylosing spondylitis. Clin Exp Immunol 149:48–55
38. Duftner C, Goldberger C, Falkenbach A et al (2003) Prevalence, clinical relevance and characterization of circulating cytotoxic CD4+ CD28-T cells in ankylosing spondylitis. Arthritis Res Ther 5:R292–R300
39. van der Paardt M, Crusius JB, de Koning MH et al (2003) CARD15 gene mutations are not associated with ankylosing spondylitis. Genes Immun 4:77–78
40. Hickey EJ, Raje RR, Reid VE et al (2001) Diclofenac induced in vivo nephrotoxicity may involve oxidative stress-mediated massive genomic DNA fragmentation and apoptotic cell death. Free Radic Biol Med 31:139–152
41. Huang CH, Wong RH, Wei JC et al (2011) Effects of genetic polymorphisms of programmed cell death 1 and its ligands on the development of ankylosing spondylitis. Rheumatology 50:1809–1813 (Oxford)
42. Lee YH, Bae SC, Kim JH et al (2014) Meta-analysis of genetic polymorphisms in programmed cell death 1: Associations with rheumatoid arthritis, ankylosing spondylitis, and type 1 diabetes susceptibility. Z Rheumatol 74(3):230–239
43. Yang M, Zou Y, Bai Y et al (2014) The programmed cell death 1 gene polymorphisms (PD 1.3 G/A, PD 1.5 C/T and PD 1.9 C/T) and susceptibility to ankylosing spondylitis: a meta-analysis. J Orthop Sci 20(1):55–63
44. Reveille JD, Sims AM, Danoy P et al (2010) Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. Nat Genet 42:123–127