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CC BY-NC-ND 4.0 · Arq Neuropsiquiatr 2021; 79(12): 1109-1115
DOI: 10.1590/0004-282X-ANP-2020-0487
Articles

HLA-DQA1*04:01 is related to a higher multiple sclerosis lesion load on T2/Flair MRI sequences

O HLA-DQA1*04:01 está relacionado com uma alta carga lesional na ressonância magnética em T2/Flair nos pacientes com esclerose múltipla
Fabio NORO 
1   Universidade Federal do Rio de Janeiro, Departamento de Radiologia, Rio de Janeiro RJ, Brazil.
,
Soniza Vieira ALVES-LEON 
2   Universidade Federal do Rio de Janeiro, Departamento de Radiologia, Rio de Janeiro RJ, Brazil.
,
Fabricia Lima FONTES-DANTAS 
2   Universidade Federal do Rio de Janeiro, Departamento de Radiologia, Rio de Janeiro RJ, Brazil.
,
Paulo Roberto VALLE BAHIA 
1   Universidade Federal do Rio de Janeiro, Departamento de Radiologia, Rio de Janeiro RJ, Brazil.
,
Rodrigo Ferrone ANDREIUOLO 
3   Rede Dor-São Luiz, Rio de Janeiro RJ, Brazil.
,
Fernanda Cristina RUEDA LOPES 
1   Universidade Federal do Rio de Janeiro, Departamento de Radiologia, Rio de Janeiro RJ, Brazil.
,
Valeria Coelho Santa Rita PEREIRA 
2   Universidade Federal do Rio de Janeiro, Departamento de Radiologia, Rio de Janeiro RJ, Brazil.
,
Livia de Almeida Afonso ABI-HAILA 
2   Universidade Federal do Rio de Janeiro, Departamento de Radiologia, Rio de Janeiro RJ, Brazil.
,
Renan Amaral COUTINHO 
2   Universidade Federal do Rio de Janeiro, Departamento de Radiologia, Rio de Janeiro RJ, Brazil.
,
Amanda Dutra de ARAUJO 
2   Universidade Federal do Rio de Janeiro, Departamento de Radiologia, Rio de Janeiro RJ, Brazil.
,
Edson MARCHIORI 
1   Universidade Federal do Rio de Janeiro, Departamento de Radiologia, Rio de Janeiro RJ, Brazil.
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ABSTRACT

Background: The genetic predisposition to multiple sclerosis (MS) is associated with HLA alleles, especially HLA-DRB1*15:01. Objective: To identify associations between findings in magnetic resonance imaging (MRI) and genetic features in a Brazilian cohort of patients with MS. Methods: We retrospectively studied data from 95 consecutive patients with MS. Two independent observers who were blinded to the clinical data identified black holes and enhanced lesions on T1 MRI sequences, and counted and measured contrast-enhanced lesions on T2 and Flair (fluid attenuation inversion recovery) sequences. Cases were classified according to lesion size, number, and volume. The HLA-DRB1, HLA-DQB1, and HLA-DQA1 alleles, and the rs4774, rs3087456, rs6897932, rs731236, and rs1033182 single nucleotide polymorphisms were identified by polymerase chain reaction amplification with sequence-specific primers using the One Lambda Inc. Kit, Canoga Park, CA, USA. Results: Patients with the HLA-DQA1*04:01 allele had lesion load (adjusted for age, sex, and MS duration) above median compared with patients with other HLA-DQA1 alleles (p=0.02). There were no differences among all the other HLA alleles and single nucleotide polymorphisms and lesion load. Conclusions: The correlation of the HLA-DQA1*04:01 allele with a higher lesion load on T2/Flair MRI sequences suggests that the presence of this allele is associated with the risk of greater MS severity.

RESUMO

Antecedentes: A predisposição genética para a esclerose múltipla (EM) está associada a alelos HLA, principalmente o HLA-DRB1*15:01. Objetivo: Identificar associações entre lesões na ressonância magnética e características genéticas em uma coorte brasileira de pacientes com EM. Métodos: Estudamos retrospectivamente os dados de 95 pacientes consecutivos com EM. Dois observadores independentes que desconheciam os dados clínicos identificaram “black holes” e lesões realçadas pelo contraste nas sequências de ressonância magnética T1 e contaram e mediram as lesões nas sequências T2 e FLAIR (fluid attenuated inversion recovery). Os casos foram classificados de acordo com tamanho, número e volume da lesão. Os alelos HLA-DRB1, HLA-DQB1 e HLA-DQA1 e os polimorfismos de nucleotídeo único rs4774, rs3087456, rs6897932, rs731236 e rs1033182 foram identificados por amplificação de reação em cadeia da polimerase com iniciadores específicos de sequência usando o kit One Lambda Inc., Canoga Park, CA, EUA. Resultados: Os pacientes com alelo HLA-DQA1*04:01 apresentaram carga de lesão (ajustada para idade, sexo e duração da EM) acima da mediana em comparação com outros pacientes com demais alelos HLA-DQA1 (p=0,02). Não houve diferenças entre todos os outros alelos HLA e polimorfismos de nucleotídeo único e carga lesional. Conclusões: A correlação do alelo HLA-DQA1*04:01 com maior carga de lesão nas sequências de RM em T2 sugere que a presença desse alelo pode estar associada ao risco de maior gravidade da EM.

Keywords:

Multiple Sclerosis - HLA-DQ Antigens - HLA-DRB1 Chains - Genotype - Magnetic Resonance Imaging

Palavras-chave:

Esclerose Múltipla - Antígenos HLA-DQ - Cadeias HLA-DRB1 - Genótipo - Imageamento por Ressonância Magnética

Authors’ contributions:

FN: conceptualization, methodology, validation, formal analysis, investigation, writing of original draft, project administration; SVAL: conceptualization, methodology, writing (review and editing); FLFD: validation, writing (review and editing); PRVB: conceptualization, methodology; RFA, FCRL, VCSRP, LAAAH, RAC, ADA: investigation; EM: writing (review and editing), formal analysis.




Publication History

Received: 15 October 2020

Accepted: 23 December 2020

Article published online:
07 June 2023

© 2021. Academia Brasileira de Neurologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commecial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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