Genetic polymorphisms inside and outside the MHC improve prediction of AS radiographic severity in addition to clinical variables

Rheumatology (United Kingdom)

Volumn 51, Issue 8, 2012, Pages 1471-1478

  Bartolomé, Nerea ^a   Szczypiorska, Magdalena ^a   Sánchez, Alejandra ^b   Sanz, Jesús ^b   Juanola roura, Xavier ^c   Gratacós, Jordi ^d   Zarco montejo, Pedro ^e   Collantes, Eduardo ^f   Martínez, Antonio ^a   Tejedor, Diego ^a   Artieda, Marta ^a   Mulero, Juan ^b  

^a Progenika Biopharma SA   (Spain)

^b HOSPITAL UNIVERSITARIO PUERTA DE HIERRO   (Spain)

^c HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^d HOSPITAL DE SABADELL   (Spain)

^e HOSPITAL UNIVERSITARIO FUNDACIÓN ALCORCÓN   (Spain)

^f HOSPITAL UNIVERSITARIO REINA SOFÍA   (Spain)

Author keywords

Ankylosing spondylitis; Autoimmune diseases; Gene polymorphism

Indexed keywords

BETA 1 ADRENERGIC RECEPTOR; MAJOR HISTOCOMPATIBILITY ANTIGEN; NEL LIKE 1 PRECURSOR PROTEIN; PROTEIN PRECURSOR; UNCLASSIFIED DRUG;

ADULT; AGE; ANKYLOSING SPONDYLITIS; ARTICLE; CROSS-SECTIONAL STUDY; DISEASE SEVERITY; FEMALE; FOLLOW UP; GENDER; HUMAN; MAJOR CLINICAL STUDY; MALE; ONSET AGE; PREDICTIVE VALUE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; COHORT STUDIES; CROSS-SECTIONAL STUDIES; FEMALE; FOLLOW-UP STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LOGISTIC MODELS; MAJOR HISTOCOMPATIBILITY COMPLEX; MALE; MIDDLE AGED; NERVE TISSUE PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; PREDICTIVE VALUE OF TESTS; RECEPTORS, ADRENERGIC, BETA-1; ROC CURVE; SENSITIVITY AND SPECIFICITY; SEVERITY OF ILLNESS INDEX; SPONDYLITIS, ANKYLOSING;

EID: 84865179765     PISSN: 14620324     EISSN: 14620332     Source Type: Journal    
DOI: 10.1093/rheumatology/kes056     Document Type: Article

References (53)

1. Brown MA. Breakthroughs in genetic studies of ankylosing spondylitis. Rheumatology 2008;7:132-7.
2. Khan MA, Ball EJ. Genetic aspects of ankylosing spondylitis. Best Pract Res Clin Rheumatol 2002;16: 675-90.
3. Brionez TF, Reveille JD. The contribution of genes outside the major histocompatibility complex to susceptibility to ankylosing spondylitis. Curr Opin Rheumatol 2008;20: 384-91.
4. Burton PR, Clayton DG, Cardon LR et al. Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet 2007;39:1329-37.
5. Reveille JD, Sims AM, Danoy P et al. Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. Nat Genet 2010;42:123-7.
6. Harvey D, Pointon JJ, Evans DM et al. Investigating the genetic association between ERAP1 and ankylosing spondylitis. Hum Mol Genet 2009;18:4204-12.
7. Maksymowych WP, Inman RD, Gladman DD et al. Association of a specific ERAP1/ARTS1 haplotype with disease susceptibility in ankylosing spondylitis. Arthritis Rheum 2009;60:1317-23.
8. Pazár B, Sáfrány E, Gergely P et al. Association of ARTS1 gene polymorphisms with ankylosing spondylitis in the Hungarian population: the rs27044 variant is associated with HLA-B*2705 subtype in Hungarian patients with ankylosing spondylitis. J Rheumatol 2009;37:379-84.
9. Rueda B, Orozco G, Raya E et al. The IL23R Arg381Gln non-synonymous polymorphism confers susceptibility to ankylosing spondylitis. Ann Rheum Dis 2008;67:1451-4.
10. Sanchez A, Szczypiorska M, Juanola X et al. Association of the intergenic single-nucleotide polymorphism rs10865331 (2p15) with ankylosing spondylitis in a Spanish population. J Rheumatol 2010;37:2345-7.
11. Chatzikyriakidou A, Georgiou I, Voulgari PV, Drosos AA. The role of tumor necrosis factor (TNF)-alpha and TNF receptor polymorphisms in susceptibility to ankylosing spondylitis. Clin Exp Rheumatol 2009;27: 645-8.
12. Brophy S, Hickey S, Menon A et al. Concordance of disease severity among family members with ankylosing spondylitis? J Rheumatol 2004;31:1775-8.
13. Landewé R, Dougados M, Mielants H, van der Tempel H, van der Heijde D. Physical function in ankylosing spondylitis is independently determined by both disease activity and radiographic damage of the spine. Ann Rheum Dis 2009;68:863-7.
14. Sieper J. Can structural damage be prevented in ankylosing spondylitis? Curr Opin Rheumatol 2009;21: 335-9.
15. Baraliakos X, Listing J, Rudwaleit M, Sieper J, Braun J. The relationship between inflammation and new bone formation in patients with ankylosing spondylitis. Arthritis Res Ther 2008;10:R104.
16. Amor B, Santos RS, Nahal R, Listrat V, Dougados M. Predictive factors for the longterm outcome of spondyloarthropathies. J Rheumatol 1994;21:1883-7.
17. Lee W, Reveille JD, Davis JC Jr et al. Are there gender differences in severity of ankylosing spondylitis? Results from the PSOAS cohort. Ann Rheum Dis 2007;66: 633-8.
18. Doran MF, Brophy S, MacKay K, Taylor G, Calin A. Predictors of longterm outcome in ankylosing spondylitis. J Rheumatol 2003;30:316-20.
19. Averns HL, Oxtoby J, Taylor HG et al. Smoking and outcome in ankylosing spondylitis. Scand J Rheumatol 1996;25:138-42.
20. Sousa E, Caetano-Lopes J, Pinto P et al. Ankylosing spondylitis susceptibility and severity-contribution of TNF gene promoter polymorphisms at positions -238 and -308. Ann N Y Acad Sci 2009;1173:581-8.
21. Pimentel-Santos FM, Ligeiro D, Matos M et al. Association of IL23R and ERAP1 genes with ankylosing spondylitis in a Portuguese population. Clin Exp Rheumatol 2009;27: 800-6.
22. Seo JS, Lee SS, Kim SI et al. Influence of VEGF gene polymorphisms on the severity of ankylosing spondylitis. Rheumatology 2005;44:1299-302.
23. Ward MM, Hendrey MR, Malley JD et al. Clinical and immunogenetic prognostic factors for radiographic severity in ankylosing spondylitis. Arthritis Rheum 2009; 61:859-66.
24. Van der Linden S, Valkenburg HA, Cats A. Evaluation of diagnostic criteria for ankylosing spondylitis. A proposal for modification of the New York criteria. Arthritis Rheum 1984;27:361-8.
25. Collantes E, Zarco P, Munoz E et al. Disease pattern of spondyloarthropathies in Spain: description of the first national registry (REGISPONSER) extended report. Rheumatology 2007;46:1309-15.
26. MacKay K, Mack C, Brophy S, Calin A. The Bath Ankylosing Spondylitis Radiology Index (BASRI): a new, validated approach to disease assessment. Arthritis Rheum 1998;41:2263-70.
27. Fan JB, Oliphant A, Shen R et al. Highly parallel SNP genotyping. Cold Spring Harb Symp Quant Biol 2003;68: 69-78.
28. Reich D, Patterson N, De Jager PL et al. A whole-genome admixture scan finds a candidate locus for multiple sclerosis susceptibility. Nat Genet 2005;37:1113-8.
29. Steyerberg EW, Harrell FE Jr, Borsboom GJ et al. Internal validation of predictive models: efficiency of some procedures for logistic regression analysis. J Clin Epidemiol 2001;54:774-81.
30. George SL. Statistical issues in translational cancer research. Clin Cancer Res 2008;14:5954-8.
31. Hanley JA, McNeil BJ. A method of comparing the areas under receiver operating characteristic curves derived from the same cases. Radiology 1983;148:839-43.
32. Nowicki ER, Birkmeyer NJ, Weintraub RW et al. Multivariable prediction of in-hospital mortality associated with aortic and mitral valve surgery in northern New England. Ann Thorac Surg 2004;77:1966-77.
33. Buxens A, Ruiz JR, Arteta D et al. Can we predict top-level sports performance in power vs endurance events? A genetic approach. Scand J Med Sci Sports 2011;21: 570-9.
34. Brophy S, Calin A. Ankylosing spondylitis: interaction between genes, joints, age at onset, and disease expression. J Rheumatol 2001;28:2283-8.
35. Nejentsev S, Howson JM, Walker NM et al. Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A. Nature 2007;450:887-92.
36. de Bakker PI, McVean G, Sabeti PC et al. A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC. Nat Genet 2006;38:1166-72.
37. Lee HS, Lee AT, Criswell LA et al. Several regions in the major histocompatibility complex confer risk for anti-CCP-antibody positive rheumatoid arthritis, independent of the DRB1 locus. Mol Med 2008;14: 293-300.
38. Feng M, Yin B, Shen T et al. TAP1 and TAP2 polymorphisms associated with ankylosing spondylitis in genetically homogenous Chinese Han population. Hum Immunol 2009;70:257-61.
39. Fraile A, Collado MD, Matarán L, Martín J, Nieto A. TAP1 and TAP2 polymorphism in Spanish patients with ankylosing spondylitis. Exp Clin Immunogenet 2000;17: 199-204.
40. Konno Y, Numaga J, Mochizuki M et al. TAP polymorphism is not associated with ankylosing spondylitis and complications with acute anterior uveitis in HLA-B27-positive Japanese. Tissue Antigens 1998;52: 478-83.
41. Moins-Teisserenc H, Semana G, Alizadeh M et al. TAP2 gene polymorphism contributes to genetic susceptibility to multiple sclerosis. Hum Immunol 1995;42:195-202.
42. Qu HQ, Lu Y, Marchand L et al. Genetic control of alternative splicing in the TAP2 gene: possible implication in the genetics of type 1 diabetes. Diabetes 2007;56: 270-5.
43. Zhang X, Zara J, Siu RK, Ting K, Soo C. The role of NELL-1, a growth factor associated with craniosynostosis, in promoting bone regeneration. J Dent Res 2010;89: 865-78.
44. Xue J, Peng J, Yuan M et al. NELL1 promotes high-quality bone regeneration in rat femoral distraction osteogenesis model. Bone 2011;48:485-95.
45. Lu SS, Zhang X, Soo C et al. The osteoinductive properties of Nell-1 in a rat spinal fusion model. Spine J 2007;7: 50-60.
46. Ting K, Vastardis H, Mulliken JB et al. Human NELL-1 expressed in unilateral coronal synostosis. J Bone Miner Res 1999;14:80-9.
47. Franke A, Hampe J, Rosenstiel P et al. Systematic association mapping identifies NELL1 as a novel IBD disease gene. PLoS One 2007;2:e691.
48. Bonnet N, Pierroz DD, Ferrari SL. Adrenergic control of bone remodeling and its implications for the treatment of osteoporosis. J Musculoskelet Neuronal Interact 2008;8: 94-104.
49. Pierroz DD, Bouxsein ML, Rizzoli R, Ferrari SL. Combined treatment with a beta-blocker and intermittent PTH improves bone mass and microarchitecture in ovariectomized mice. Bone 2006;39:260-7.
50. Hamrick MW, Shi X, Zhang W et al. Loss of myostatin (GDF8) function increases osteogenic differentiation of bone marrow-derived mesenchymal stem cells but the osteogenic effect is ablated with unloading. Bone 2007;40: 1544-53.
51. Wanders A, Heijde D, Landewé R et al. Nonsteroidal antiinflammatory drugs reduce radiographic progression in patients with ankylosing spondylitis: a randomized clinical trial. Arthritis Rheum 2005;52:1756-65.
52. Baraliakos X, Listing J, Brandt J et al. Radiographic progression in patients with ankylosing spondylitis after 4yrs of treatment with the anti-TNF-alpha antibody infliximab. Rheumatology 2007;46:1450-3.
53. Braun J, van den Berg R, Baraliakos X et al. 2010 update of the ASAS/EULAR recommendations for the management of ankylosing spondylitis. Ann Rheum Dis 2011;70:896-904.