Polymorphisms of Human Leukocyte Antigen B*27 on Clinical Phenotype of Spondyloarthritis in Chinese

Overview

Journal J Clin Lab Anal

Publisher Wiley

Specialties Biomedical Engineering
Biotechnology
Pathology

Date 2017 Jun 21

PMID 28632339

Citations 2

Authors

Hai-Jun Ma

Qing-Feng Yin

Yun Liu

Yin Wu

Tie-Chui Zhu

Ming-Hao Guo

Affiliations

Soon will be listed here.

Abstract

Background: In recent years, an ever-increasing number of alleles of human leukocyte antigen B*27 (HLA-B*27) have been identified. This study aimed to establish an updated method for HLA-B*27 subtyping, and to investigate the impact of HLA-B*27 polymorphisms on the clinical phenotype of spondyloarthritis (SpA).

Methods: Overall, 184 SpA patients were recruited for analyzing diversity of HLA-B*27 via an updated high-resolution polymerase chain reaction amplification with sequence specific primers (PCR-SSP).

Results: The prevalence of HLA-B*27 was 94.0%, and four subtypes were identified including HLA-B*2704 (77.5%), B*2705 (20.2%), B*2707 (1.7%), and B*2724 (0.6%). There was an obvious male predominance (P=.05) and markedly elevated C-reaction protein (CRP) in B*27 positive SpA (P<.01). In multivariate linear regression analysis, the elevated CRP was positively associated with HLA-B*27 positivity (regression coefficient B=46.1, P=.0003), grade of sacroiliitis (B=47.5, P=.0032), and male gender (B=20.4, P=.0041). Notably, a male predilection was also found in B*2705 positive SpA while B*2707 was associated with older age, higher positive family history, and higher prevalence of extra-articular features (all P<.05).

Conclusions: In this study, an updated PCR-SSP technique to identify increasing alleles of HLA-B*27 was developed and their different effects on clinical manifestations of SpA were demonstrated. Genotyping of HLA-B*27 would shed light on our understanding of the pathogenesis of SpA.

Citing Articles

Sarcopenia and Variation in the Human Leukocyte Antigen Complex.

Jones G, Pilling L, Kuo C, Kuchel G, Ferrucci L, Melzer D J Gerontol A Biol Sci Med Sci. 2019; 75(2):301-308.

PMID: 30772894 PMC: 7176057. DOI: 10.1093/gerona/glz042.

Polymorphisms of human leukocyte antigen B*27 on clinical phenotype of spondyloarthritis in Chinese.

Ma H, Yin Q, Liu Y, Wu Y, Zhu T, Guo M J Clin Lab Anal. 2017; 32(2).

PMID: 28632339 PMC: 6816982. DOI: 10.1002/jcla.22275.

References

Evans D, Spencer C, Pointon J, Su Z, Harvey D, Kochan G . Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. Nat Genet. 2011; 43(8):761-7. PMC: 3640413. DOI: 10.1038/ng.873. View

Marcilla M, de Castro J . Peptides: the cornerstone of HLA-B27 biology and pathogenetic role in spondyloarthritis. Tissue Antigens. 2008; 71(6):495-506. DOI: 10.1111/j.1399-0039.2008.01051.x. View

van Tubergen A, Weber U . Diagnosis and classification in spondyloarthritis: identifying a chameleon. Nat Rev Rheumatol. 2012; 8(5):253-61. DOI: 10.1038/nrrheum.2012.33. View

Cauli A, Dessole G, Fiorillo M, Vacca A, Mameli A, Bitti P . Increased level of HLA-B27 expression in ankylosing spondylitis patients compared with healthy HLA-B27-positive subjects: a possible further susceptibility factor for the development of disease. Rheumatology (Oxford). 2002; 41(12):1375-9. DOI: 10.1093/rheumatology/41.12.1375. View

BREWERTON D, Hart F, Nicholls A, Caffrey M, James D, Sturrock R . Ankylosing spondylitis and HL-A 27. Lancet. 1973; 1(7809):904-7. DOI: 10.1016/s0140-6736(73)91360-3. View

Rudwaleit M, Haibel H, Baraliakos X, Listing J, Marker-Hermann E, Zeidler H . The early disease stage in axial spondylarthritis: results from the German Spondyloarthritis Inception Cohort. Arthritis Rheum. 2009; 60(3):717-27. DOI: 10.1002/art.24483. View

Brown M, Pile K, Kennedy L, Calin A, Darke C, Bell J . HLA class I associations of ankylosing spondylitis in the white population in the United Kingdom. Ann Rheum Dis. 1996; 55(4):268-70. PMC: 1010149. DOI: 10.1136/ard.55.4.268. View

Seipp M, Erali M, Wies R, Wittwer C . HLA-B27 typing: evaluation of an allele-specific PCR melting assay and two flow cytometric antigen assays. Cytometry B Clin Cytom. 2004; 63(1):10-5. DOI: 10.1002/cyto.b.20039. View

Chatzikyriakidou A, Voulgari P, Drosos A . What is the role of HLA-B27 in spondyloarthropathies?. Autoimmun Rev. 2011; 10(8):464-8. DOI: 10.1016/j.autrev.2011.01.011. View

10.

Liu Y, Jiang L, Cai Q, Danoy P, Barnardo M, Brown M . Predominant association of HLA-B*2704 with ankylosing spondylitis in Chinese Han patients. Tissue Antigens. 2009; 75(1):61-4. DOI: 10.1111/j.1399-0039.2009.01379.x. View

11.

Huang F, Yamaguchi A, Tsuchiya N, Ikawa T, Tamura N, Virtala M . Induction of alternative splicing of HLA-B27 by bacterial invasion. Arthritis Rheum. 1997; 40(4):694-703. DOI: 10.1002/art.1780400414. View

12.

Tran T, Hong S, Edwan J, Colbert R . ERAP1 reduces accumulation of aberrant and disulfide-linked forms of HLA-B27 on the cell surface. Mol Immunol. 2016; 74:10-7. PMC: 5425939. DOI: 10.1016/j.molimm.2016.04.002. View

13.

Sieper J, Rudwaleit M, Baraliakos X, Brandt J, Braun J, Burgos-Vargas R . The Assessment of SpondyloArthritis international Society (ASAS) handbook: a guide to assess spondyloarthritis. Ann Rheum Dis. 2009; 68 Suppl 2:ii1-44. DOI: 10.1136/ard.2008.104018. View

14.

van Tubergen A, Heuft-Dorenbosch L, Schulpen G, Landewe R, Wijers R, van der Heijde D . Radiographic assessment of sacroiliitis by radiologists and rheumatologists: does training improve quality?. Ann Rheum Dis. 2003; 62(6):519-25. PMC: 1754576. DOI: 10.1136/ard.62.6.519. View

15.

Chung H, Machado P, van der Heijde D, DAgostino M, Dougados M . HLA-B27 positive patients differ from HLA-B27 negative patients in clinical presentation and imaging: results from the DESIR cohort of patients with recent onset axial spondyloarthritis. Ann Rheum Dis. 2011; 70(11):1930-6. DOI: 10.1136/ard.2011.152975. View

16.

Feldtkeller E, Khan M, van der Heijde D, van der Linden S, Braun J . Age at disease onset and diagnosis delay in HLA-B27 negative vs. positive patients with ankylosing spondylitis. Rheumatol Int. 2003; 23(2):61-6. DOI: 10.1007/s00296-002-0237-4. View

17.

Casals-Sanchez J, Garcia de Yebenes Prous M, Descalzo Gallego M, Barrio Olmos J, Carmona Ortells L, Hernandez Garcia C . Characteristics of patients with spondyloarthritis followed in rheumatology units in Spain. emAR II study. Reumatol Clin. 2012; 8(3):107-13. DOI: 10.1016/j.reuma.2012.01.006. View

18.

Duangchanchot M, Puapairoj C, Romphruk A, Kongmaroeng C, Leelayuwat C, Romphruk A . HLA-B*27 subtypes in Northern and Northeastern Thais, Karens, and Bamars determined by a high-resolution PCR-SSP technique. Tissue Antigens. 2009; 73(6):590-4. DOI: 10.1111/j.1399-0039.2009.01238.x. View

19.

Nieto A, Fraile A, Vinasco J, Martin J . HLA-B*27 typing by PCR-restriction fragment length polymorphism. Tissue Antigens. 1997; 49(3 Pt 1):283-6. DOI: 10.1111/j.1399-0039.1997.tb02754.x. View

20.

Breban M, Miceli-Richard C, Zinovieva E, Monnet D, Said-Nahal R . The genetics of spondyloarthropathies. Joint Bone Spine. 2006; 73(4):355-62. DOI: 10.1016/j.jbspin.2005.11.010. View