HLA allele heterogeneity in a sample of Colombian patients with a diagnosis of psoriatic arthritis
−ACERCA DE LA PORTADA−  El virus Epstein-Barr (EBV) es un gamma herpes virus que afecta humanos. La infección se adquiere principalmente durante la infancia o adolescencia; se presenta de manera asintomática o como un trastorno linfoproliferativo autolimitado que no requiere atención clínica. Sin embargo, afecta a más del 95% de la población adulta mundial y corresponde a uno de los virus oncogénicos más comunes en la especie humana: en promedio, cada año se asocia con 200,000 casos de cáncer. Interesantemente, solo un pequeño porcentaje de individuos infectados desarrolla procesos malignos, normalmente hospederos inmunocomprometidos o inmunodeficientes. EBV tiene un tropismo casi exclusivo por células B y de manera general la infección conduce a un estado latente o lítico, a partir de los cuales es posible desarrollar enfermedades y complicaciones. Las células citotóxicas NK y T CD8+ son los principales agentes inmunológicos que controlan y eliminan la infección por EBV. En este contexto, variantes genéticas que comprometan el desarrollo, proliferación, diferenciación, coestimulación y/o activación de células NK y T CD8+ predisponen al desarrollo de neoplasias o trastornos linfoproliferativos. Específicamente, se ha descrito la deficiencia, haploinsuficiencia o desregulación de ciertas proteínas citoplasmáticas, receptores de membrana, ligandos y transportadores de iones que afectan la función efectora de las células citotóxicas, y resultan en las secuelas más graves por EBV. Sin duda, el conocimiento ganado en este tema seguirá contribuyendo a diagnósticos más oportunos y el desarrollo de mejores estrategias terapéuticas en la clínica.     Breve descripción de la portada: Dres. Arturo Gutiérrez Guerrero, Sara Elva Espinosa Padilla y Saúl Oswaldo Lugo Reyes.   Agradecimiento especial por la elaboración y diseño de la portada: DG. Diana Gabriela Salazar Rodríguez.
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Keywords

Psoriatic arthritis
Human leukocyte antigen
Mixed population

Abstract

Background and objectives

Psoriatic arthritis (PsA), being part of the group of spondyloarthritis (SpA), is significantly influenced by the different subtypes of human leukocyte antigens (HLA). There is little data in Colombia and Latin America, but heterogeneity secondary to miscegenation is evident. It has been previously reported that HLA B27 in this region ranges between 5-71% for patients with SpA, and in Brazil, PsA has a frequency of 27.3% positivity. The objective is to describe the HLA allelic frequency in PsA and correlate it with demographic and clinical variables.

Methods

Retrospective study of adult patients with a diagnosis of PsA (n=23) and healthy controls (n=46), all with a request for HLA-A, B, C, DR. Typing was performed using HLA-PCR/SSO LifeCodes and analyzed on the LUMINEX IS100/200 xMAP® system. (Ethics/Code HMC2022-014).

Results

One hundred thirty-eight alleles were included from 69 individuals, 43.5% women, aged 44.5±16.5 years in patients with PsA, with a mean age of disease onset of 33.4±14 years. Only 9.5% had a high Body Mass Index and dyslipidemia was the most frequent comorbidity (34.8%), followed by high blood pressure (26.1%). 82% debuted with skin manifestation and once the joint disease was established, the predominance was peripheral (74%) due to arthritis/arthralgia in 74%, enthesitis in 30% and dactylitis in 13%. The allele frequencies were for HLA*A 2402 (13%), 3201 (13%) and 2427 (8.7%), for HLA*B 1402 (17.4%), 4002 (17.4%), 3801 (13%) and HLA*DR 0404 (17.4%), 0407 (13%). No HLA*B27 was identified and HLA*C0602 was only 2.2%. HLA A*0201 and DR*1301 were less frequent in controls versus PsA (p=0.024 and 0.029, respectively), while HLA*B1302 was frequent in PsA (p=0.035).

Conclusions

Curiously, there were no positive results for HLAB*27, which may be related to the population mix. HLA Cw6 is traditionally associated with psoriasis. However, its absence has been linked to nail disorders and PsA; consequently, in our study, it had a low frequency (2.2%). On the other hand, HLA*B1302 has been related to the disease and its early onset; in the healthy Colombian population, it has been described in 0.92%; in our group, it is found to be significant in patients without establishing a clinical association. Few previous studies report HLA results in PsA in Colombia.

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