Allelic and haplotypic HLA analysis in patients with psoriatic arthritis: Low frequency of common alleles
Abstract
Introduction. Psoriatic arthritis is a complex disease, and human leukocyte antigens (HLA) are key to its development. Latin America and, specifically, Colombia, has scarce data about patients with psoriatic arthritis.
Objectives. To describe the genotypic, allelic and haplotypic frequency of HLA alleles in psoriatic arthritis and associate them with clinical variables.
Materials and methods. We conducted a retrospective study involving adult patients with psoriatic arthritis, evaluated according to CASPAR criteria, between 2012 and 2023. We included healthy donors whose HLA-A, B, C, and DR were genotyped by PCR/SSO in a Luminex 100/200 xMAP™ device. We performed an HLA comparative analysis between healthy donors and psoriatic arthritis patients.
Results. We included 401 healthy controls and 37 patients with psoriatic arthritis, in which we identified 46 genotypes, 75 alleles, and 32 haplotypes. The most frequent HLA were HLA-A*24 (37.1%), HLA-B*35 (20.8%), HLA-C*3 and HLA-C*7 (19.9% each), and HLADR* 4 (30%). Compared to healthy donors, the patient’s genotypic frequency was lower for HLA-A*02, HLA-A*11, HLA-B*35, HLA-DR*01, HLA-DR*07, HLA-DR*13, and HLA-DR*15 (p < 0.05), which means that even though HLA-B*35 was frequent in psoriatic arthritis, it's frequency was lower when compared to that of healthy controls. The frequency of HLA-A*24 and HLA-B*44 was different in cutaneous involvement (p < 0.05), HLA-B*40 and HLA-B*35 in joint involvement (p < 0.05), and HLA-A*26 and HLA-C*16 in extra-articular manifestations (p < 0.05). The allelic frequency of HLA-A*26:01 and HLA-C*16:01 in extra-articular manifestations was also significant. The frequency of HLA-Cw*6 was 6.7% and the allele HLA-B*27 was absent.
Conclusions. The HLA analysis in psoriatic arthritis showed a low frequency of HLA-C*06 and absence of HLA-B*27, different from the information reported for Caucasian population. These results also revealed other alleles of interest. Found differences could be related to the important racial mixing of our population.
Downloads
References
Greb JE, Goldminz AM, Elder JT, Lebwohl MG, Gladman DD, Wu JJ, et al. Psoriasis. Nat Rev Dis Primers. 2016;2:16082. https://doi.org/10.1038/nrdp.2016.82
Chen J, Yuan F, Fan X, Wang Y. Psoriatic arthritis: A systematic review of non-HLA genetic studies and important signaling pathways. Int J Rheum Dis. 2020;23:1288-96. https://doi.org/10.1111/1756-185X.13879
FitzGerald O, Ogdie A, Chandran V, Coates LC, Kavanaugh A, Tillett W, et al. Psoriatic arthritis. Nat Rev Dis Primers. 2021;7:59. https://doi.org/10.1038/s41572-021-00293-y
Maximilian R, Garbe C, Petersen J, Augustin M, Kirsten N, Biermann MHC, et al. Epidemiology, comorbidity and risk factors for psoriatic arthritis: A health insurance claims database analysis. Acta Derm Venereol. 2021;101:adv00566. https://doi.org/10.2340/00015555-3879
Coates LC, Savage L, Waxman R, Moverley AR, Worthington S, Helliwell PS. Comparison of screening questionnaires to identify psoriatic arthritis in a primary-care population: A cross-sectional study. Br J Dermatol. 2016;175:542-8. https://doi.org/10.1111/bjd.14604
Faustini F, Simon D, Oliveira I, Kleyer A, Haschka J, Englbrecht M, et al. Subclinical joint inflammation in patients with psoriasis without concomitant psoriatic arthritis: A crosssectional and longitudinal analysis. Ann Rheum Dis. 2016;75:2068-74. https://doi.org/10.1136/annrheumdis-2015-208821
Menon B, Gullick NJ, Walter GJ, Rajasekhar M, Garrood T, Evans HG, et al. Interleukin-17+CD8+ T cells are enriched in the joints of patients with psoriatic arthritis and correlate with disease activity and joint damage progression. Arthritis Rheumatol. 2014;66:1272-81. https://doi.org/10.1002/art.38376
Bowes J, Orozco G, Flynn E, Ho P, Brier R, Marzo-Ortega H, et al. Confirmation of TNIP1 and IL23A as susceptibility loci for psoriatic arthritis. Ann Rheum Dis. 2011;70:1641-4. https://doi.org/10.1136/ard.2011.150102
FitzGerald O, Haroon M, Giles JT, Winchester R. Concepts of pathogenesis in psoriatic arthritis: Genotype determines clinical phenotype. Arthritis Res Ther. 2015;17:115. https://doi.org/10.1186/s13075-015-0640-3
Huang Y-W, Tsai T-F. HLA-Cw1 and psoriasis. Am J Clin Dermatol. 2021;22:339-47. https://doi.org/10.1007/s40257-020-00585-1
Gottlieb A, Merola JF. Psoriatic arthritis for dermatologists. J Dermatolog Treat. 2020;31:662-79. https://doi.org/10.1080/09546634.2019.1605142
O’Rielly DD, Jani M, Rahman P, Elder JT. The genetics of psoriasis and psoriatic arthritis. J Rheumatol. 2019;95:46-50. https://doi.org/10.3899/jrheum.190119
Veale DJ, Fearon U. The pathogenesis of psoriatic arthritis. Lancet. 2018;391:2273-84. https://doi.org/10.1016/S0140-6736(18)30830-4
Taylor W, Gladman D, Helliwell P, Marchesoni A, Mease P, Mielants H. Classification criteria for psoriatic arthritis: Development of new criteria from a large international study. Arthritis Rheum. 2006;54:2665-73. https://doi.org/10.1002/art.21972
Choo SY. The HLA system: genetics, immunology, clinical testing, and clinical implications. Yonsei Med. J 2007;48:11. https://doi.org/10.3349/ymj.2007.48.1.11
Zalesak M, Danisovic L, Harsanyi S. Psoriasis and psoriatic arthritis—associated genes, cytokines, and human leukocyte antigens. Medicina (B. Aires). 2024;60:815. https://doi.org/10.3390/medicina60050815
Bowes J, Budu-Aggrey A, Huffmeier U, Uebe S, Steel K, Hebert HL, et al. Dense genotyping of immune-related susceptibility loci reveals new insights into the genetics of psoriatic arthritis. Nat Commun. 2015;6:6046. https://doi.org/10.1038/ncomms7046
McKendry RJ, Sengar DP, DesGroseilliers JP, Dunne JV. Frequency of HLA antigens in patients with psoriasis or psoriatic arthritis. Can Med Assoc J. 1984;130:411-5.
Woodrow JC, Ilchysyn A. HLA antigens in psoriasis and psoriatic arthritis. J Med Genet. 1985;22:492-5. https://doi.org/10.1136/jmg.22.6.492
Winchester R, Minevich G, Steshenko V, Kirby B, Kane D, Greenberg DA, et al. HLA associations reveal genetic heterogeneity in psoriatic arthritis and in the psoriasis phenotype. Arthritis Rheum. 2012;64:1134-44. https://doi.org/10.1002/art.33415
Rodríguez LM, Giraldo MC, García N, Velásquez L, París SC, Álvarez CM, et al. Frecuencias alélicas, genotípicas y haplotípicas HLA-A, HLA-B, HLA-DRB1 en donantes fallecidos, Medellín, Colombia. Biomédica. 2007;27:537-47. https://doi.org/10.7705/biomedica.v27i4.172
Álvarez I, Bengochea M, Toledo R, Carretto E, Hidalgo PC. HLA class I antigen and HLA-A, -B, and -C haplotype frequencies in Uruguayans. Hum Biol. 2006;78:513-25. https://doi.org/10.1353/hub.2006.0051
Perusco A, Gamba C, Galarza P, Rojas F, Kalapodis A, Onofri A, et al. HLA antigenic and haplotype frequencies estimated in hematopoietic progenitor cell donors from Argentina. Transplant Proc. 2014;46:3064-7. https://doi.org/10.1016/j.transproceed.2014.07.029
Cao K, Hollenbach J, Shi X, Shi W, Chopek M, Fernández-Viña MA. Analysis of the frequencies of HLA-A, B, and C alleles and haplotypes in the five major ethnic groups of the United States reveals high levels of diversity in these loci and contrasting distribution patterns in these populations. Hum Immunol. 2001;62:1009-30. https://doi.org/10.1016/S0198-8859(01)00298-1
Metzger AL, Morris RI, Bluestone R, Terasaki PI. HL-A W27 in psoriatic arthropathy. Arthritis Rheum. 1975;18:111-5. https://doi.org/10.1002/art.1780180203
Tsai Y-G, Chang D-M, Kuo S-Y, Wang W-M, Chen Y-C, Lai J-H. Relationship between human lymphocyte antigen-B27 and clinical features of psoriatic arthritis. J Microbiol Immunol Infect. 2003;36:101-4.
González S, Garcia-Fernández S, Martínez-Borra J, Blanco-Gelaz MA, Rodrigo L, Sanchez del Río J, et al. High variability of HLA-B27 alleles in ankylosing spondylitis and related spondyloarthropathies in the population of Northern Spain. Hum Immunol. 2002;63:673-6. https://doi.org/10.1016/S0198-8859(02)00404-4
Elkayam O, Segal R, Caspi D. Human leukocyte antigen distribution in Israeli patients with psoriatic arthritis. Rheumatol Int. 2004;24:93-7. https://doi.org/10.1007/s00296-003-0325-0
Ruiz DG, Azevedo MNL de, Lupi O. HLA-B27 frequency in a group of patients with psoriatic arthritis. An Bras Dermatol. 2012;87:847-50. https://doi.org/10.1590/S0365-05962012000600004
Londoño J, González L, Ramírez L, Santos P, Ávila M, Santos A, et al. Caracterización de las espondiloartropatías y determinación de factores de mal pronóstico en una población de pacientes colombianos. Rev Colomb Reumatol. 2005;12:195-207.
Velásquez EP, Quintero JC, Aristizábal BH, Rincón OL, Velásquez CJ, Pinto LF, et al. Frecuencia de alelos HLA de clase I y II en una cohorte de pacientes con espondiloartritis provenientes del noroccidente colombiano. Biomédica. 2012;32:43-51. https://doi.org/10.1590/S0120-41572012000100006
Ashrafi M, Ermann J, Weisman MH. Spondyloarthritis evolution: What is in your history? Curr Opin Rheumatol. 2020;32:321-9. https://doi.org/10.1097/BOR.0000000000000712
Londono J, Santos AM, Peña P, Calvo E, Espinosa LR, Reveille JD, et al. Analysis of HLA-B15 and HLA-B27 in spondyloarthritis with peripheral and axial clinical patterns. BMJ Open. 2015;5:e009092. https://doi.org/10.1136/bmjopen-2015-009092
Liao H-T, Lin K-C, Chang Y-T, Chen C-H, Liang T-H, Chen W-S, et al. Human leukocyte antigen and clinical and demographic characteristics in psoriatic arthritis and psoriasis in Chinese patients. J Rheumatol. 2008;35:891-5.
Singh S, Singh U, Singh S. Human leukocyte antigen in patients with psoriasis. Indian J Dermatol Venereol Leprol. 2011;77:535. https://doi.org/10.4103/0378-6323.82410
Zalesak M, Danisovic L, Harsanyi S. Psoriasis and psoriatic arthritis—associated genes, cytokines, and human leukocyte antigens. Medicina (Kaunas). 2024;60:815. https://doi.org/10.3390/medicina60050815
Kerschbaumer A, Fenzl KH, Erlacher L, Aletaha D. An overview of psoriatic arthritis - epidemiology, clinical features, pathophysiology and novel treatment targets. Wien Klin Wochenschr. 2016;128:791-5. https://doi.org/10.1007/s00508-016-1111-9
Nakajima T, Tsuji H, Inaba R, Saito R, Nishimura K, Morinobu A. Significant association of HLA-A26 with uveitis and gastrointestinal involvement in patients with Behçet’s disease in a multicentre study. Mod Rheumatol. 2024;34:1221-5. https://doi.org/10.1093/mr/roae022
Schatteman L, Mielants H, Veys EM, Cuvelier C, De Vos M, Gyselbrecht L, et al. Gut inflammation in psoriatic arthritis: A prospective ileocolonoscopic study. J Rheumatol. 1995;22:680-3.
Tanaka R, Takamoto M, Komae K, Ohtomo K, Fujino Y, Kaburaki T. Clinical features of psoriatic uveitis in Japanese patients. Graefes Arch Clin Exp Ophthalmol. 2015;253:1175-80. https://doi.org/10.1007/s00417-015-2968-4
Queiro R, Torre JC, Belzunegui J, González C, de Dios JR, Unanue F, et al. Clinical features and predictive factors in psoriatic arthritis–related uveitis. Semin Arthritis Rheum. 2002;31:264-70. https://doi.org/10.1053/sarh.2002.28798
Departamento Administrativo Nacional de Estadística DANE. Estadísticas vitales: Información año 2017-2018. Bogotá, D. C.: DANE; 2022. Fecha de consulta: 18 de enero de 2024. Disponible en: https://www.datos.gov.co/widgets/kk5w-ugzm
Ossa H, Aquino J, Pereira R, Ibarra A, Ossa RH, Pérez LA, et al. Outlining the ancestry landscape of Colombian admixed populations. PLoS ONE. 2016;11:e0164414. https://doi.org/10.1371/journal.pone.0164414
Some similar items:
- Jorge Machado, Juan Carlos Moncada, Ricardo Pineda, Profile of use of anti tumor necrosis factor in Colombian patients , Biomedica: Vol. 31 No. 2 (2011)
- Gerardo Quintana, Claudia Mora, Andrés González, Jorge Díaz Díaz, Financial cost of early rheumatoid arthritis in the first year medical attention: three clinical scenarios. , Biomedica: Vol. 29 No. 1 (2009)
- Liliana Franco-Hincapié, Constanza Elena Duque, María Victoria Parra, Natalia Gallego, Alberto Villegas, Andrés Ruiz-Linares, Gabriel Bedoya, Association between polymorphism in uncoupling proteins and type 2 diabetes in a northwestern Colombian population , Biomedica: Vol. 29 No. 1 (2009)
- Alberto Gómez, Sandra J. Ávila, Ignacio Briceño, Correlation analysis of surnames and Y-chromosome genetic heritage in 3 provinces of southwestern Colombia , Biomedica: Vol. 28 No. 3 (2008)
- Libia M. Rodríguez, Mabel C. Giraldo, Natalia García, Laura Velásquez, Sara C. París, Cristiam M. Álvarez, Luis F. García, Human leucocyte antigen gene (HLA-A, HLA-B, HLA-DRB1) frequencies in deceased organ donors , Biomedica: Vol. 27 No. 4 (2007)
- Olga María Moreno, Clara Isabel González, Diego Luis Saaibi, William Otero, Reynaldo Badillo, Javier Martín, Gerardo Ramírez, Polymorphisms of IL-10 gene promoter and rheumatoid arthritis in a Colombian population , Biomedica: Vol. 27 No. 1 (2007)
- Marylin Hidalgo, Claudia Santos, Carolina Duarte, Elizabeth Castañeda, Clara Inés Agudelo, Increase in erythromycin-resistant Streptococcus pneumoniae in Colombia, 1994-2008 , Biomedica: Vol. 31 No. 1 (2011)
- Lucero Rengifo, Duverney Gaviria, Herman Serrano, APOE gene polymorphisms associated with Down syndrome in Colombian populations , Biomedica: Vol. 32 No. 2 (2012)
- Eliana Patricia Velásquez, Julio César Quintero, Beatriz Helena Aristizábal, Olga Lucía Rincón, Carlos Jaime Velásquez, Luis Fernando Pinto, Javier Darío Márquez, Frequency of HLA alleles class I and II in a cohort of northwestern Colombian patients with spondyloarthritis , Biomedica: Vol. 32 No. 1 (2012)
- Yurika López, Francisco Vargas, Mónica Velásquez, Carolina Ortiz, Libia M. Rodríguez, Sara Paris, Luis F. García, Andrés Baena, Gloria Vásquez, Correlation between the response to Mycobacterium tuberculosis antigens and the tuberculin skin test in patients with rheumatoid arthritis in Colombia , Biomedica: Vol. 33 No. 2 (2013)
Copyright (c) 2024 Biomedica
This work is licensed under a Creative Commons Attribution 4.0 International License.
| Article metrics | |
|---|---|
| Abstract views | |
| Galley vies | |
| PDF Views | |
| HTML views | |
| Other views | |
