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Spondyloarthropathy, susceptibility to, 2(SPDA2)

MedGen UID:
355791
•Concept ID:
C1866738
•
Disease or Syndrome
Synonym: Spondyloarthropathy 2
 
Monarch Initiative: MONDO:0008468
OMIM®: 183840

Clinical features

From HPO
Abnormal joint morphology
MedGen UID:
893053
•Concept ID:
C0240083
•
Finding
An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.
See: Feature record | Search on this feature
Abnormality of metabolism/homeostasis
MedGen UID:
867398
•Concept ID:
C4021768
•
Finding
See: Feature record | Search on this feature
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Professional guidelines

PubMed

The Interplay Between COVID-19 and Spondyloarthritis or Its Treatment.
Rosenbaum JT, Weisman MH, Hamilton H, Shafer C, Aslanyan E, Howard RA, Ogle K, Reveille JD, Winthrop KL, Choi D
J Rheumatol 2022 Feb;49(2):225-229. Epub 2021 Oct 1 doi: 10.3899/jrheum.210742. PMID: 34599048
An update on the diagnosis and management of psoriatic arthritis.
Weger W
G Ital Dermatol Venereol 2011 Feb;146(1):1-8. PMID: 21317852
Insights into the pathology and treatment of spondyloarthritis: from the bench to the clinic.
Davis JC Jr, Mease PJ
Semin Arthritis Rheum 2008 Oct;38(2):83-100. Epub 2007 Dec 31 doi: 10.1016/j.semarthrit.2007.10.007. PMID: 18166219

Recent clinical studies

Etiology

Efficacy of guselkumab, a selective IL-23 inhibitor, in Preventing Arthritis in a Multicentre Psoriasis At-Risk cohort (PAMPA): protocol of a randomised, double-blind, placebo controlled multicentre trial.
Haberman RH, MacFarlane KA, Catron S, Samuels J, Blank RB, Toprover M, Uddin Z, Hu J, Castillo R, Gong C, Qian K, Piguet V, Tausk F, Yeung J, Neimann AL, Gulliver W, Thiele RG, Merola JF, Ogdie A, Rahman P, Chakravarty SD, Eder L, Ritchlin CT, Scher JU
BMJ Open 2022 Dec 23;12(12):e063650. doi: 10.1136/bmjopen-2022-063650. PMID: 36564123Free PMC Article
The Interplay Between COVID-19 and Spondyloarthritis or Its Treatment.
Rosenbaum JT, Weisman MH, Hamilton H, Shafer C, Aslanyan E, Howard RA, Ogle K, Reveille JD, Winthrop KL, Choi D
J Rheumatol 2022 Feb;49(2):225-229. Epub 2021 Oct 1 doi: 10.3899/jrheum.210742. PMID: 34599048
Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci.
International Genetics of Ankylosing Spondylitis Consortium (IGAS), Cortes A, Hadler J, Pointon JP, Robinson PC, Karaderi T, Leo P, Cremin K, Pryce K, Harris J, Lee S, Joo KB, Shim SC, Weisman M, Ward M, Zhou X, Garchon HJ, Chiocchia G, Nossent J, Lie BA, Førre Ø, Tuomilehto J, Laiho K, Jiang L, Liu Y, Wu X, Bradbury LA, Elewaut D, Burgos-Vargas R, Stebbings S, Appleton L, Farrah C, Lau J, Kenna TJ, Haroon N, Ferreira MA, Yang J, Mulero J, Fernandez-Sueiro JL, Gonzalez-Gay MA, Lopez-Larrea C, Deloukas P, Donnelly P; Australo-Anglo-American Spondyloarthritis Consortium (TASC); Groupe Française d'Etude Génétique des Spondylarthrites (GFEGS); Nord-Trøndelag Health Study (HUNT); Spondyloarthritis Research Consortium of Canada (SPARCC); Wellcome Trust Case Control Consortium 2 (WTCCC2), Bowness P, Gafney K, Gaston H, Gladman DD, Rahman P, Maksymowych WP, Xu H, Crusius JB, van der Horst-Bruinsma IE, Chou CT, Valle-Oñate R, Romero-Sánchez C, Hansen IM, Pimentel-Santos FM, Inman RD, Videm V, Martin J, Breban M, Reveille JD, Evans DM, Kim TH, Wordsworth BP, Brown MA
Nat Genet 2013 Jul;45(7):730-8. Epub 2013 Jun 9 doi: 10.1038/ng.2667. PMID: 23749187Free PMC Article
Genetics of spondyloarthritis--beyond the MHC.
Reveille JD
Nat Rev Rheumatol 2012 Apr 10;8(5):296-304. doi: 10.1038/nrrheum.2012.41. PMID: 22487796
The genetics of spondyloarthropathies.
Breban M, Miceli-Richard C, Zinovieva E, Monnet D, Said-Nahal R
Joint Bone Spine 2006 Jul;73(4):355-62. Epub 2006 Mar 20 doi: 10.1016/j.jbspin.2005.11.010. PMID: 16650794

Diagnosis

Interleukin 1 gene polymorphism and susceptibility to disease.
Khazim K, Azulay EE, Kristal B, Cohen I
Immunol Rev 2018 Jan;281(1):40-56. doi: 10.1111/imr.12620. PMID: 29247999
Reactive Arthritis.
Schmitt SK
Infect Dis Clin North Am 2017 Jun;31(2):265-277. Epub 2017 Mar 11 doi: 10.1016/j.idc.2017.01.002. PMID: 28292540
Genetics of ankylosing spondylitis--insights into pathogenesis.
Brown MA, Kenna T, Wordsworth BP
Nat Rev Rheumatol 2016 Feb;12(2):81-91. Epub 2015 Oct 6 doi: 10.1038/nrrheum.2015.133. PMID: 26439405
Genetics of spondyloarthritis--beyond the MHC.
Reveille JD
Nat Rev Rheumatol 2012 Apr 10;8(5):296-304. doi: 10.1038/nrrheum.2012.41. PMID: 22487796
What is the role of HLA-B27 in spondyloarthropathies?
Chatzikyriakidou A, Voulgari PV, Drosos AA
Autoimmun Rev 2011 Jun;10(8):464-8. Epub 2011 Feb 4 doi: 10.1016/j.autrev.2011.01.011. PMID: 21296192

Therapy

Efficacy of guselkumab, a selective IL-23 inhibitor, in Preventing Arthritis in a Multicentre Psoriasis At-Risk cohort (PAMPA): protocol of a randomised, double-blind, placebo controlled multicentre trial.
Haberman RH, MacFarlane KA, Catron S, Samuels J, Blank RB, Toprover M, Uddin Z, Hu J, Castillo R, Gong C, Qian K, Piguet V, Tausk F, Yeung J, Neimann AL, Gulliver W, Thiele RG, Merola JF, Ogdie A, Rahman P, Chakravarty SD, Eder L, Ritchlin CT, Scher JU
BMJ Open 2022 Dec 23;12(12):e063650. doi: 10.1136/bmjopen-2022-063650. PMID: 36564123Free PMC Article
Interleukin 1 gene polymorphism and susceptibility to disease.
Khazim K, Azulay EE, Kristal B, Cohen I
Immunol Rev 2018 Jan;281(1):40-56. doi: 10.1111/imr.12620. PMID: 29247999
Reactive Arthritis.
Schmitt SK
Infect Dis Clin North Am 2017 Jun;31(2):265-277. Epub 2017 Mar 11 doi: 10.1016/j.idc.2017.01.002. PMID: 28292540
Associations between ERAP1 polymorphisms and susceptibility to ankylosing spondylitis: a meta-analysis.
Lee YH, Song GG
Clin Rheumatol 2016 Aug;35(8):2009-2015. Epub 2016 Apr 25 doi: 10.1007/s10067-016-3287-9. PMID: 27108589
Update on spondyloarthropathies.
Khan MA
Ann Intern Med 2002 Jun 18;136(12):896-907. doi: 10.7326/0003-4819-136-12-200206180-00011. PMID: 12069564

Prognosis

Prevalence of Type 2 and Type 1 Diabetes in Psoriatic Arthritis: An Italian Study.
Ciaffi J, Mele G, Mancarella L, Brusi V, Lisi L, Faranda Cordella J, Lubrano E, D'Angelo S, Meliconi R, Ursini F
J Clin Rheumatol 2022 Mar 1;28(2):e324-e329. doi: 10.1097/RHU.0000000000001706. PMID: 35192591
Reactive Arthritis.
Schmitt SK
Infect Dis Clin North Am 2017 Jun;31(2):265-277. Epub 2017 Mar 11 doi: 10.1016/j.idc.2017.01.002. PMID: 28292540
Genetics of ankylosing spondylitis--insights into pathogenesis.
Brown MA, Kenna T, Wordsworth BP
Nat Rev Rheumatol 2016 Feb;12(2):81-91. Epub 2015 Oct 6 doi: 10.1038/nrrheum.2015.133. PMID: 26439405
Biomarkers and prognostic stratification in psoriatic arthritis.
Bogliolo L, Crepaldi G, Caporali R
Reumatismo 2012 Jun 5;64(2):88-98. doi: 10.4081/reumatismo.2012.88. PMID: 22690385
Genetics of spondyloarthritis--beyond the MHC.
Reveille JD
Nat Rev Rheumatol 2012 Apr 10;8(5):296-304. doi: 10.1038/nrrheum.2012.41. PMID: 22487796

Clinical prediction guides

Efficacy of guselkumab, a selective IL-23 inhibitor, in Preventing Arthritis in a Multicentre Psoriasis At-Risk cohort (PAMPA): protocol of a randomised, double-blind, placebo controlled multicentre trial.
Haberman RH, MacFarlane KA, Catron S, Samuels J, Blank RB, Toprover M, Uddin Z, Hu J, Castillo R, Gong C, Qian K, Piguet V, Tausk F, Yeung J, Neimann AL, Gulliver W, Thiele RG, Merola JF, Ogdie A, Rahman P, Chakravarty SD, Eder L, Ritchlin CT, Scher JU
BMJ Open 2022 Dec 23;12(12):e063650. doi: 10.1136/bmjopen-2022-063650. PMID: 36564123Free PMC Article
Prevalence of Type 2 and Type 1 Diabetes in Psoriatic Arthritis: An Italian Study.
Ciaffi J, Mele G, Mancarella L, Brusi V, Lisi L, Faranda Cordella J, Lubrano E, D'Angelo S, Meliconi R, Ursini F
J Clin Rheumatol 2022 Mar 1;28(2):e324-e329. doi: 10.1097/RHU.0000000000001706. PMID: 35192591
The interplay between HLA-B27 and ERAP1/ERAP2 aminopeptidases: from anti-viral protection to spondyloarthritis.
Vitulano C, Tedeschi V, Paladini F, Sorrentino R, Fiorillo MT
Clin Exp Immunol 2017 Dec;190(3):281-290. Epub 2017 Aug 30 doi: 10.1111/cei.13020. PMID: 28759104Free PMC Article
Genetics of ankylosing spondylitis--insights into pathogenesis.
Brown MA, Kenna T, Wordsworth BP
Nat Rev Rheumatol 2016 Feb;12(2):81-91. Epub 2015 Oct 6 doi: 10.1038/nrrheum.2015.133. PMID: 26439405
The genetics of psoriasis.
Elder JT, Nair RP, Guo SW, Henseler T, Christophers E, Voorhees JJ
Arch Dermatol 1994 Feb;130(2):216-24. PMID: 8304761

Recent systematic reviews

Association between Genetic Polymorphisms in Methylenetetrahydrofolate Reductase and Risk of Autoimmune Diseases: A Systematic Review and Meta-Analysis.
Lu M, Peng K, Song L, Luo L, Liang P, Liang Y
Dis Markers 2022;2022:4568145. Epub 2022 May 31 doi: 10.1155/2022/4568145. PMID: 35686035Free PMC Article
Relationship Between IL1 Gene Polymorphism and Susceptibility to Ankylosing Spondylitis: An Updated and Supplemented Meta-Analysis.
Gao M, Li T, Song Z, Wang X, Zhang X, Liu W
Biochem Genet 2022 Jun;60(3):1025-1038. Epub 2021 Nov 11 doi: 10.1007/s10528-021-10149-5. PMID: 34762200
Association between cytokine gene polymorphisms and ankylosing spondylitis susceptibility: a systematic review and meta-analysis.
Xia Y, Liang Y, Guo S, Yu JG, Tang MS, Xu PH, Qin FD, Wang GP
Postgrad Med J 2018 Sep;94(1115):508-516. Epub 2018 Oct 15 doi: 10.1136/postgradmedj-2018-135665. PMID: 30322951
Genetic association between TAP1 and TAP2 polymorphisms and ankylosing spondylitis: a systematic review and meta-analysis.
Qian Y, Wang G, Xue F, Chen L, Wang Y, Tang L, Yang H
Inflamm Res 2017 Aug;66(8):653-661. Epub 2017 Apr 12 doi: 10.1007/s00011-017-1047-1. PMID: 28405734
The associations between PD-1, CTLA-4 gene polymorphisms and susceptibility to ankylosing spondylitis: a meta-analysis and systemic review.
Chen S, Li Y, Deng C, Li J, Wen X, Wu Z, Hu C, Zhang S, Li P, Zhang X, Zhang F, Li Y
Rheumatol Int 2016 Jan;36(1):33-44. Epub 2015 Aug 1 doi: 10.1007/s00296-015-3327-9. PMID: 26232179

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