HLA‐B27 testing: A journey from flow cytometry to molecular subtyping

Chheda, Pratiksha; Warghade, Sandeep; Mathias, Jyothi; Dama, Tavisha; Matkar, Sunmeet; Shah, Nilesh; Bendre, Rajesh

doi:10.1002/jcla.22382

Cited by 9 publications

(3 citation statements)

References 44 publications

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“…The HLA-B gene is amplified, and the PCR product is hybridized with multiple sequence-specific oligonucleotides, allowing the detection of HLA-B27 and providing information on variants. In addition, it is more sensitive than flow cytometry and is a potentially cost-effective method for differentiating HLA-B27 subtypes [30,31]. Recently, based on genome-wide studies (GWAS), weighted genetic risk scores, combining HLA-B27 and other genome-wide susceptibility single nucleotide polymorphisms (SNP) were described as effective for the diagnosis of axSpA, particularly where there was a relatively high pretest probability and were found to be better than HLA-B27 alone [32].…”

Section: Human Leucocyte Antigen-b27 Testing Methodsmentioning

confidence: 99%

Human leucocyte antigen-B27 testing in clinical practice: a global perspective

Ziadé

2023

Current Opinion in Rheumatology

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Purpose of reviewThe association between human leucocyte antigen (HLA)-B27 and spondyloarthritis (SpA) was described half a century ago. New insights about pathophysiologic pathways and their role in bone formation were reported in recent years and will be discussed in this review. Recent findingsThere is a considerable variation in the association between HLA-B27 and SpA across the globe, with the strongest association reported in populations of Northern European and Asian descent and the lowest in the Middle East and Africa. Other genes are also involved in disease susceptibility, highlighting the importance of newly proposed weighted genetic scores to support the diagnosis. On the global level, the interaction between genetic background and gut dysbiosis seems critical for disease predisposition. As for the individual patient, the presence of HLA-B27 can have a significant influence on SpA diagnosis and disease phenotype. More importantly, new studies suggested a role for HLA-B27 in radiographic damage in the sacroiliac joints and the progression of bone formation in the spine. SummaryFindings in recent years have enhanced our understanding of the role of HLA-B27 in the pathophysiology and in disease-related bone formation in SpA, which may pave the way for new therapeutic targets.

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Section: Human Leucocyte Antigen-b27 Testing Methodsmentioning

confidence: 99%

Human leucocyte antigen-B27 testing in clinical practice: a global perspective

Ziadé

2023

Current Opinion in Rheumatology

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“…All patients with recurrent non-granulomatous AAU or recurrent anterior uveitis, which has evolved into chronic anterior uveitis, should undergo HLAB-27 testing, preferably using the polymerase chain reaction method as serological techniques such as flow cytometry are rapid and relatively inexpensive but lack specificity (Chheda et al, 2018).…”

Section: Laboratory Investigationsmentioning

confidence: 99%

Clinical spectrum of HLA-B27-associated ocular inflammation

Pyare,

Majumder

2022

Nep J Oph

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Introduction: HLA-B27-associated anterior uveitis is the most common identifiable cause of anterior uveitis in adults worldwide. It is associated with significant ocular morbidity in young patients due to its typically recurrent attacks of inflammation and vision-threatening ocular complications. Materials and methods: This review was compiled using articles identified by searching on PubMed with all relevant keywords such as HLA B27, HLA B27 uveitis, spondyloarthritis, Ankylosing spondylitis, HLA B27 systemic associations. Results: We summarize the current knowledge on the HLA B27 associated uveitis epidemiology, genetics, clinical profile, systemic associations, laboratory investigations, complications and management. Conclusion: HLA-B27-associated uveitis is a commonly encountered entity in the uveitic clinic. Its management must be in coordination with a rheumatologist. Early and appropriately intense treatment is essential for optimal visual prognosis.

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“…Besides flow cytometry techniques, PCR based methods are widely used in routine clinical HLA‐B*27 testing . Molecular genotyping of HLA‐B*27 is mostly based on sequence‐specific PCR using primers complementary to a sequence in the second or third exon unique to the B*27 ‐allele, as described by Olerup and Dominguez et al, respectively.…”

Section: Introductionmentioning

confidence: 99%

Real‐time PCR based HLA‐B27* screening directly in whole blood

Geiger

Zach

Leiherer

et al. 2019

HLA

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The linkage between the occurrence of human leucocyte antigen B*27 (HLA‐B*27) and ankylosing spondylitis or other related spondyloarthritides is well documented. PCR based methods are widely used for HLA‐B*27 screening. To refine HLA‐B*27 testing we aimed at establishing a real‐time PCR protocol to detect the HLA‐B*27 allele directly in blood samples, without DNA extraction. HLA‐B*27 analysis was performed by two real‐time PCRs using TaqMan primer‐probe assays for B*27 specific amplification of exon 2 or exon 3 of the HLA‐B gene together with a mutant of Taq polymerase for direct blood PCR. Conditions for direct blood PCR were optimized and the reliability of the direct blood PCR protocol was evaluated by re‐genotyping over 200 blood samples from patients who previously underwent routine DNA‐based HLA‐B*27 testing. Heating blood samples at 95°C for 10 minutes significantly improved PCR performance. Results from real‐time PCR based HLA‐B*27 testing directly in blood of over 200 patients were in 100% concordance with results obtained by routine DNA‐based HLA‐B*27 genotyping. In summary, we present a reliable real‐time PCR protocol for HLA‐B*27 screening directly in whole blood supporting fast clarification of the presence of ankylosing spondylitis or other spondyloarthritides in suspected cases.

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HLA‐B27 testing: A journey from flow cytometry to molecular subtyping

Cited by 9 publications

References 44 publications

Human leucocyte antigen-B27 testing in clinical practice: a global perspective

Human leucocyte antigen-B27 testing in clinical practice: a global perspective

Clinical spectrum of HLA-B27-associated ocular inflammation

Real‐time PCR based HLA‐B27* screening directly in whole blood

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HLA‐B27 testing: A journey from flow cytometry to molecular subtyping

Cited by 9 publications

References 44 publications

Human leucocyte antigen-B27 testing in clinical practice: a global perspective

Human leucocyte antigen-B27 testing in clinical practice: a global perspective

Clinical spectrum of HLA-B27-associated ocular inflammation

Real‐time PCR based HLA‐B*27 screening directly in whole blood

Contact Info

Product

Resources

About

Real‐time PCR based HLA‐B27* screening directly in whole blood