Defining a genetic background for bamboo spine and axial spondyloarthritis

被引：0
作者：
Ozkaya, Seyma Colakogu [1 ]
Abacar, Kerem [2 ]
Dilek, Yunus Emre [3 ]
Akcapinar, Guenseli Bayram [3 ]
Atagunduz, Mehmet Pamir [2 ]
Erzik, Can [1 ,4 ]
机构：
[1] Marmara Univ, Inst Hlth Sci, Dept Med Biol & Genet, Istanbul, Turkiye
[2] Marmara Univ, Sch Med, Dept Internal Med, Div Rheumatol, Istanbul, Turkiye
[3] Acibadem Univ, Inst Hlth Sci, Dept Med Biotechnol, Istanbul, Turkiye
[4] Marmara Univ, Sch Med, Dept Med Biol, Basibuyuk Campus, Istanbul, Turkiye
来源：
JOINT BONE SPINE | 2025年 / 92卷 / 03期
关键词：
Axial spondyloarthritis; ERAP1; ERAP2; HLA-B27; Bamboo spine; RETICULUM AMINOPEPTIDASE 2; ANKYLOSING-SPONDYLITIS; RADIOGRAPHIC PROGRESSION; ERAP1; ASSOCIATION; SEVERITY; SYNDESMOPHYTES; PATHOGENESIS; HAPLOTYPES; ARTHRITIS;
D O I：
10.1016/j.jbspin.2025.105842
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Objective: Bamboo spine is the most severe complication of axial spondyloarthritis (AxSpA). This study aims to address whether haplotypes ofendoplasmic reticulum aminopeptidase (ERAP)1 and ERAP2 single nucleotide polymorphisms (SNPs), previously associated with AxSpA, are associated with the development of bamboo spine in an AxSpA cohort. Methods: The study included 192 patients with AxSpA followed in MARS (MARmara Spondyloarthritis) clinic and fulfilling the modified New York criteria. ERAP1 and ERAP2 polymorphisms were determined by real-time PCR on genomic DNA using the TaqMan SNP Genotyping Assay for SNPs rs72773968, rs3734016, rs26653, rs26618, rs27895, rs2287987, rs30187, rs10050860, rs17482078, rs27044, rs2549782, rs2248374. The HLA-B genotypes were assessed using the LABTypeTM SSO method. Results: Male gender (P < 0.001) and HLA-B27 positivity (P < 0.05) were associated with an increased risk of developing a bamboo spine, and peripheral arthritis was significantly less prevalent in AxSpA patients with a bamboo spine (P < 0.05). Of the ten ERAP1 haplotypes, haplotype 3 was significantly more prevalent in AxSpA patients with bamboo spine adjusted for HLA-B27 status (P < 0.05). Haplotype 3 and-6 were significantly more prevalent exclusively in HLA-B27 (+) patients (P < 0.05). Allele frequencies and genotype distributions of single ERAP1 SNPs alone were not significantly different between AxSpA patients with and without bamboo spines. There was no association between bamboo spine development and ERAP2 SNPs. Conclusions: Our results indicate that HLA-B27 positivity, ERAP1 haplotype 3 and-6, and being male confer a significant risk for developing bamboo spine. Whether the association of haplotype 3 and-6 with bamboo spine is confined only to our Turkish patient cohort may deserve attention in other ethnicities. (c) 2025 Socio<acute accent>to<acute accent> Fran o<acute accent>aise de Rhumatologie. Published by Elsevier Masson SAS. All rights are reserved, including those for text and data mining, AI training, and similar technologies.
引用
收藏
页数：7
相关论文
共 48 条
  • [1] Schett G., Lories R.J., D'Agostino M.A., Et al., Enthesitis: from pathophysiology to treatment, Nat Rev Rheumatol, 13, pp. 731-741, (2017)
  • [2] Poddubnyy D., Listing J., Haibel H., Et al., Functional relevance of radiographic spinal progression in axial spondyloarthritis: results from the GErman SPondyloarthritis Inception Cohort, Rheumatology (Oxford), 57, pp. 703-711, (2018)
  • [3] Brophy S., Mackay K., Al-Saidi A., Et al., The natural history of axial spondyloarthritis as defined by radiological progression, J Rheumatol, 29, pp. 1236-1243, (2002)
  • [4] Carette S., Graham D., Little H., Et al., The natural disease course of axial spondyloarthritis, Arthritis Rheum, 26, pp. 186-190, (1983)
  • [5] Atagunduz P., Kiraz S., Akar S., Et al., Clinical and laboratory factors associated with bamboo spine in patients with axial spondyloarthritis: are there clues for bamboo spine?, Clin Exp Rheumatol, 41, pp. 620-627, (2023)
  • [6] Schlosstein L., Terasaki P.I., Bluestone R., Et al., High association of an HL-A antigen, W27, with axial spondyloarthritis, N Engl J Med, 288, pp. 704-706, (1973)
  • [7] Cortes A., Pulit S.L., Leo P.J., Et al., Major histocompatibility complex associations of axial spondyloarthritis are complex and involve further epistasis with ERAP1, Nat Commun, 6, (2015)
  • [8] Smith J.A., Update on axial spondyloarthritis: current concepts in pathogenesis, Curr Allergy Asthma Rep, 15, (2015)
  • [9] Ombrello M.J., Kastner D.L., Remmers E.F., Endoplasmic reticulum-associated amino-peptidase 1 and rheumatic disease: genetics, Curr Opin Rheumatol, 27, pp. 349-356, (2015)
  • [10] Evnouchidou I., Birtley J., Seregin S., Et al., A common single nucleotide polymorphism in endoplasmic reticulum aminopeptidase 2 induces a specificity switch that leads to altered antigen processing, J Immunol, 189, pp. 2383-2392, (2012)
12345