Evidence map›Paper›PMID 41900928›Full record

ArticleLife (Basel, Switzerland)2026

The Role of HLA-B Typing in Behçet's Disease and Spondyloarthritis: Genetic and Clinical Insights.

Elena Bischoff, Stoyanka Vladeva, Fabian Bischoff, Nikola Kirilov

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Article in Life (Basel, Switzerland), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1citing papers in PubMed
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1 · What the graph read from it

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3 · Its place in the literature

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1 citing paper in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

4 authors.

Elena BischoffDepartment of Health Care, Faculty of Medicine, Trakia University, 6000 Stara Zagora, Bulgaria.
Stoyanka VladevaDepartment of Health Care, Faculty of Medicine, Trakia University, 6000 Stara Zagora, Bulgaria.
Fabian BischoffRheumatology Practice Stara Zagora, 6000 Stara Zagora, Bulgaria.
Nikola KirilovDepartment of Orthopedics and Traumatology, University Hospital UMBAL Dr. Georgi Stranski, Medical University of Pleven, 5803 Pleven, Bulgaria.ORCID 0000-0001-7668-2448

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundBehçet's disease (BD) is a systemic inflammatory disorder marked by recurrent mucocutaneous and ocular manifestations, predominantly affecting populations along the historic Silk Road. Genetic susceptibility, especially involving HLA-B*51, is well established. Spondyloarthritis (SpA) shares immunogenetic and clinical overlaps with BD, notably through associations with HLA class I alleles, particularly HLA-B*27. However, extended HLA-B allele profiling in these conditions remains limited. This study aimed to investigate the extended distribution of HLA-B alleles in patients presenting with clinical features suggestive of BD or SpA and to compare their clinical and laboratory profiles.

methodsIn a prospective observational study at a Bulgarian rheumatology center, 120 patients with suspected BD or SpA were enrolled between January 2023 and June 2025. Diagnoses were confirmed using International Criteria for Behçet's Disease (ICBD) and ASAS criteria for SpA. Comprehensive clinical evaluations, laboratory assessments including HLA-B typing by Sanger sequencing, and inflammatory markers were collected and analyzed.

resultsOf the cohort, 15 patients (12.5%) were diagnosed with BD and 30 (25%) with SpA. HLA-B*51 was predominantly associated with BD, while HLA-B*27 and its heterozygous combinations were prevalent in SpA patients. Suspected BD patients exhibited significantly higher levels of inflammatory markers (CRP, ESR) and characteristic clinical features such as oral/genital ulcers and uveitis compared to non-BD patients. Suspected SpA patients showed longer disease duration, increased NSAID use and higher prevalence of enthesitis, psoriasis and peripheral arthritis compared to non-SpA patients.

conclusionsThis study confirms the strong associations of HLA-B*51 with Behçet's disease and HLA-B*27 with spondyloarthritis while revealing additional heterozygous and less common alleles that suggest a broader genetic influence. These findings highlight the genetic diversity and clinical heterogeneity of BD and SpA, supporting the use of extended HLA typing to improve the diagnosis and understanding of these diseases.

Indexed as

Behçet’s diseaseclinical featuresgenetic susceptibilityHLA typingspondyloarthritis

Identifiers

PMID41900928
PMCPMC13027714

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