The HLA-DRB1 and HLA-DQB1 alleles are associated with multiple sclerosis disability progression in Slovak population. (3rd July 2018)

• Record Type: Journal Article
• Authors: Čierny, Daniel; Lehotský, Ján; Kantorová, Ema; Sivák, Štefan; Javor, Juraj; Kurča, Egon; Dobrota, Dušan; Michalik, Jozef
• Is Part Of: Neurological research. Volume 40:Number 7(2018)
• Page Start: 609
• Page End: 616
• Publication Date: 2018-07-03
• Subjects: Multiple sclerosis -- genetic marker -- disability progression -- Human Leukocyte Antigen -- HLA-DRB1 -- HLA-DQB1 -- EDSS -- MSSS; Neurology -- Periodicals; Neurosciences -- Periodicals; 616.8005
• DOI: 10.1080/01616412.2018.1456711
• Languages: English
• ISSNs: 0161-6412

Abstract

Abstract: Objective: The aim of our present study was to analyse the association of HLA-DRB1 and -DQB1 alleles and genotypes with Multiple Sclerosis (MS) disability progression in a cohort of Central European Slovak population. Methods: The allele and genotype variants were analyzed in 282 non-related MS patients. Rate of disease disability progression was evaluated using EDSS score in the 5 th, 7 th, 10 th, and 15 th year of disease duration, time to reach EDSS score 3 and 5, and MSSS score. Genotyping was performed by polymerase chain reaction with sequence-specific primers. Results: We found that carriers of homozygous genotype for alleles DRB1*15 and DQB1*03 reached EDSS score 3 significantly earlier than non-carriers of these alleles ( p = 0.0172; p = 0.00183, respectively). Genotype DQB1*03/03 carriage was also associated with significantly reduced time to reach EDSS score 5 ( p = 0.00316). Lower EDSS score in the 5 th year of disease duration was found in carriers of DRB1*07 allele ( p cor = 0.028). When MSSS score was used, genotype DRB1*15/15 was found to be less frequent in slow progressing MS patients, when compared to MS patients with mid-rate and rapid disease disability progression ( p cor = 0.0305). Discussion: We showed for the first time that HLA-DRB1 and -DQB1 genotypes are genetic markers associated with disability progression in Slovak MS patients. Genotypes DRB1*15/15 and DQB1*03/*03 were identified as short-term clinical negative prognostic factors, while allele DRB1*07 carriage appeared to be a positive prognostic marker of better MS outcome.