Article
Multidisciplinary Sciences
James T. Rosenbaum, Michael H. Weisman, Hedley Hamilton, Cassie Shafer, Elin Aslanyan, Richard A. Howard, Kimberly Ogle, John D. Reveille, Kevin L. Winthrop, Dongseok Choi
Summary: HLA-B27 positive patients with axial spondyloarthritis (AxSpA) tend to have lower disease activity compared to HLA-B27 negative patients, as indicated by higher BASDAI scores. HLA-B27 positive patients with mild back pain are more likely to be diagnosed with AxSpA, suggesting a cognitive bias introduced by the HLA-B27 test.
SCIENTIFIC REPORTS
(2021)
Review
Clinical Neurology
Naiwen Hu, Dongxia Liu, Na Zhao, Xia Wang, Yanyan Bai, Hongsheng Sun
Summary: The study found significant associations between TNF-238, -308, -857, -1031, and -863 minor alleles and AS susceptibility in the HLA-B27 positive population. However, no association was found between TNF polymorphisms and AS in the HLA-B27-positive patients group and the HLA-B27-positive healthy controls group. Other gene SNPs may play a role in AS susceptibility in the HLA-B27-positive population.
EUROPEAN SPINE JOURNAL
(2021)
Article
Genetics & Heredity
Jessika Nordin, Mats Pettersson, Lina Hultin Rosenberg, Argyri Mathioudaki, Asa Karlsson, Eva Muren, Karolina Tandre, Lars Ronnblom, Alf Kastbom, Jan Cedergren, Per Eriksson, Peter Soderkvist, Kerstin Lindblad-Toh, Jennifer R. S. Meadows
Summary: This study investigated the role of MHC in ankylosing spondylitis through typing 17 genes, identifying 25 HLA protein-coding variants associated with the disease. Novel protective associations were found in a HLA-B*27 positive population, and unique risk variants were identified in different sexes, highlighting the impact of population composition on disease associations.
FRONTIERS IN GENETICS
(2021)
Article
Biochemistry & Molecular Biology
Javier Fernandez-Torres, Yessica Zamudio-Cuevas, Nathalie Montano-Armendariz, Ivan Alejandro Lujan-Juarez, Roberto Sanchez-Sanchez, Karina Martinez-Flores
Summary: The study found that variants of the ERAP1 gene may interact with smoking to increase the risk of AS in patients, especially those carrying the B27 allele.
MOLECULAR BIOLOGY REPORTS
(2022)
Article
Rheumatology
Juergen Braun, Joachim Sieper
Summary: The human lymphocyte antigen B27 (HLA B27) is a member of the HLA class I family of genes in the major histocompatibility complex. It is associated with ankylosing spondylitis (AS) and plays a role in the immune system's defense against microbes. HLA B27 accounts for less than 30% of the genetic load and can be found in 60-90% of axSpA patients worldwide. Its prevalence in the population is linked to the prevalence of the disease.
Article
Rheumatology
M. Baniaamam, S. C. Heslinga, T. C. Konings, M. L. Handoko, O. Kamp, V. P. van Halm, I. E. van der Horst-Bruinsma, M. T. Nurmohamed
Summary: This study found a significantly increased aortic root index in HLA-B27 positive AS patients compared to HLA-B27 negative patients, especially in male patients. However, there was no difference in the prevalence of aortic valve regurgitation between the two groups. Echocardiographic monitoring in elderly male HLA-B27 positive AS patients may be considered due to the progressive nature of aortic valve regurgitation.
RHEUMATOLOGY INTERNATIONAL
(2022)
Article
Rheumatology
Marta Arevalo Salaet, Clementina Lopez-Medina, Mireia Moreno, Victoria Navarro-Compan, Joan Calvet Fontova, Maria Llop, Maxime Dougados, Jordi Gratacos
Summary: This study analyzed the influence of HLA-B27 in the phenotypical expression of pSpA. The results showed that HLA-B27-positive patients had an earlier disease onset and higher axial involvement, tarsitis, and uveitis, but no association with other EMM, fibromyalgia, or peripheral structural damage was observed.
Article
Rheumatology
Zhixiu Li, Mohammad Kazim Khan, Sjef M. van der Linden, Bjorn Winkens, Peter M. Villiger, Heinz Baumberger, Hermine van Zandwijk, Muhammad Asim Khan, Matthew A. Brown
Summary: This study found that patients with ankylosing spondylitis (AS) have a higher mortality rate compared to the general population, and healthy individuals carrying the HLA-B27 gene also have a similar risk. Additionally, female patients have a lower life expectancy. However, in the overall European population, the presence of the HLA-B27 gene does not affect survival or the risk of death from cardiovascular disease.
ANNALS OF THE RHEUMATIC DISEASES
(2023)
Article
Rheumatology
Henriette M. Y. de Jong, Janneke J. H. de Winter, Irene E. van der Horst-Bruinsma, Dirk-Jan van Schaardenburg, Floris A. van Gaalen, Astrid M. van Tubergen, Angelique E. A. M. Weel, Robert B. M. Landewe, Dominique L. P. Baeten, Marleen G. H. van de Sande
Summary: Features associated with SpA or imaging abnormalities were found in up to 32% of seemingly healthy FDRs, with an equal distribution between HLA-B27-positive and -negative FDRs. Progression to clinical axial SpA within 1 year of follow-up was mainly observed in HLA-B27-positive FDRs.
ARTHRITIS CARE & RESEARCH
(2022)
Article
Cell Biology
Chin-Man Wang, Ming-Kun Liu, Yeong-Jian Jan Wu, Jing-Chi Lin, Jian-Wen Zheng, Jianming Wu, Ji-Yih Chen
Summary: The study examined the impact of ERAP1 allelic variants and their interaction with HLA-B27 on ankylosing spondylitis susceptibility. It discovered multiple ERAP1 SNVs and allelic variants in Taiwanese individuals, and found that ERAP1 variants significantly contribute to the development of AS in a HLA-B27-dependent manner.
Article
Rheumatology
Rodrigo Garcia-Salinas, Santiago Ruta, Jessica Torres Chichande, Sebastian Magri
Summary: This study aimed to evaluate the frequency of HLA-B27 in Argentinean patients with axial spondyloarthritis and analyze its performance as a diagnostic biomarker. The results showed that HLA-B27-positive patients had an earlier age of onset, higher BASFI, and more extra-articular SpA features. However, HLA-B27 had low sensitivity but good specificity for the diagnosis of SpA.
JCR-JOURNAL OF CLINICAL RHEUMATOLOGY
(2022)
Article
Multidisciplinary Sciences
Xinbo Yang, Lee I. I. Garner, Ivan V. V. Zvyagin, Michael A. A. Paley, Ekaterina A. A. Komech, Kevin M. M. Jude, Xiang Zhao, Ricardo A. A. Fernandes, Lynn M. M. Hassman, Grace L. L. Paley, Christina S. S. Savvides, Simon Brackenridge, Max N. N. Quastel, M. M. Chudakov, Paul Bowness, Wayne M. M. Yokoyama, Andrew J. J. McMichael, Geraldine M. M. Gillespie, K. Christopher Garcia
Summary: The human leucocyte antigen B*27 (HLA-B*27) is strongly associated with inflammatory diseases of the spine and pelvis and the eye. The mechanism by which HLA-B*27 facilitates disease remains unknown, but it may involve the presentation of pathogenic peptides to CD8(+) T cells. In this study, orphan T cell receptors (TCRs) expressing a disease-associated public beta-chain variable region-complementary-determining region 3 beta (BV9-CDR3 beta) motif were isolated from blood and synovial fluid T cells from individuals with ankylosing spondylitis (AS) and from the eye in individuals with acute anterior uveitis (AAU). These TCRs showed consistent alpha-chain variable region (AV21) chain pairing and were clonally expanded in the joint and eye. Using peptide libraries, self-peptides and microbial peptides that activated the AS- and AAU-derived TCRs were identified. Structural analysis revealed that TCR cross-reactivity for peptide-MHC was rooted in a shared binding motif present in both self-antigens and microbial antigens that engages the BV9-CDR3 beta TCRs. These findings suggest that both microbial antigens and self-antigens could play a pathogenic role in HLA-B*27-associated disease.
Review
Immunology
Zi-Yi Song, Duo Yuan, Sheng-Xiao Zhang
Summary: Ankylosing spondylitis is a chronic condition that affects the spine and sacroiliac joints, with multifactorial etiology and pathogenesis that remain elusive. Gut microbiota as an environmental factor plays a critical role in the pathogenesis of AS through various mechanisms.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Rheumatology
Adelmo Segota, Tea Schnurrer-Luke-Vrbanic, Viviana Avancini-Dobrovic, Filip Miric
Summary: The aim of this study was to compare four forms of axial spondyloarthritis (axSpA): non-radiographic axial spondyloarthritis (nr-axSpA), ankylosing spondylitis (AS), non-radiographic axial psoriatic arthritis (nr-axPsA) and radiographic axial psoriatic arthritis (r-axPsA). The study analyzed gender differences, human leukocyte antigen (HLA) typing, laboratory values, radiographic and magnetic resonance scans of 137 patients. The key findings included newly detected HLA typing beyond HLA-27 positivity, which could serve as possible biomarkers for early detection of axSpA.
RHEUMATOLOGY INTERNATIONAL
(2023)
Article
Medical Laboratory Technology
Yongwei Jiang, Qian Liu, Xiaomu Kong, Meimei Zhao, Yi Liu, Peng Gao, Guoxiong Deng, Yongtong Cao, Liang Ma
Summary: In addition to HLA-B*27, other HLA class I and II alleles also contribute to the predisposition and characteristics of ankylosing spondylitis among Chinese Han patients. HLA-B*27-positive patients exhibit symptoms of AS at an earlier age. Certain alleles of HLA-I and HLA-II affect the age of onset of ankylosing spondylitis in the HLA-B*27(-) group.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2023)
