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

• Autor(a) principal: NORO,Fabio
• Data de Publicação: 2021
• Outros Autores: ALVES-LEON,Soniza Vieira, FONTES-DANTAS,Fabricia Lima, VALLE BAHIA,Paulo Roberto, ANDREIUOLO,Rodrigo Ferrone, RUEDA LOPES,Fernanda Cristina, PEREIRA,Valeria Coelho Santa Rita, ABI-HAILA,Livia de Almeida Afonso, COUTINHO,Renan Amaral, ARAUJO,Amanda Dutra de, MARCHIORI,Edson
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Arquivos de neuro-psiquiatria (Online)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2021001201109
• topic: Multiple Sclerosis; HLA-DQ Antigens; HLA-DRB1 Chains; Genotype; Magnetic Resonance Imaging

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.