The HLA-DRB1 and HLA-DQB1 alleles are associated with multiple sclerosis disability progression in Slovak population

被引：5

作者：

Cierny, Daniel ^{[1
,2
]}

Lehotsky, Jan ^{[3
]}

Kantorova, Ema ^{[2
,4
]}

Sivak, Stefan ^{[2
,4
]}

Javor, Juraj ^{[5
]}

Kurta, Egon ^{[2
,4
]}

Dobrota, Dusan ^{[1
,2
,3
]}

Michalik, Jozef ^{[2
,4
]}

机构：

[1] Comenius Univ, Dept Clin Biochem, Jessenius Fac Med, Martin, Slovakia

[2] Univ Hosp Martin, Martin, Slovakia

[3] Comenius Univ, Jessenius Fac Med Martin, Dept Med Biochem & BioMed, Martin, Slovakia

[4] Comenius Univ, Jessenius Fac Med, Clin Neurol, Martin, Slovakia

[5] Comenius Univ, Inst Immunol, Fac Med, Bratislava, Slovakia

来源：

NEUROLOGICAL RESEARCH | 2018年 / 40卷 / 07期

关键词：

Multiple sclerosis; genetic marker; disability progression; Human Leukocyte Antigen; HLA-DRB1; HLA-DQB1; EDSS; MSSS; CLASS-II MOLECULES; DISEASE SEVERITY; T-CELLS; GENETIC SUSCEPTIBILITY; RISK; RECOGNITION; RESISTANCE; LOCUS; HETEROGENEITY; PEPTIDE;

D O I：

10.1080/01616412.2018.1456711

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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 5th, 7th, 10th, and 15th 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 5th 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.

引用

页码：609 / 616

页数：8

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