engleski

HLA-DRB1 AND HLA-DQB1 IN MULTIPLE SCLEROSIS PATIENTS FROM EAST CROATIA

Aim: Multiple sclerosis (MS) is a chronic disease of the central nervous system characterized by myelin destruction and resulting in progressive neurological dysfunction. The recent studies have shown multifactorial etiology of MS. They suggest that interaction between environmental influences and individual genetic predisposition modulates presentation and therapeutic responsiveness. Although the basis of genetic susceptibility to MS is complex, several alleles of the human leukocyte antigen (HLA) class II were identified as genetic component the most strongly linked to MS, particularly HLA-DRB1*15:01 allele. The aim of this study was to investigate the distribution of HLA-DRB1 and HLA-DQB1 alleles in a group of MS patients from East Croatia. Additional, to determine HLA-DRB1 and -DQB1 gene variants which contribute to MS risk in tested population. Methods: This retrospective study included 46 unrelated individuals (33 female, 13 male), mean age 39 ±12 years, with a diagnosis of MS according to 2010 and 2017 revisions of McDonald criteria. Low resolution HLA-DRB1 and -DQB1 typing was performed using PCR-SSP (Olerup) and PCR-SSO (Immucor) techniques in the period of 2011-2019. The chi-square and Fisher´s test were performed to evaluate a correlation between HLA allele frequencies in MS patients and previously published results for general population of Croatia. Results: The distribution of HLA-DRB1 and -DQB1 allele groups in our study cohort was as follows: DRB1*15 (15.64%, ), DRB1*11 (11.96%), DRB1*03 (10.12%), DRB1*07 (10.12%), DRB1*01 (9.2%), DRB1*13 (8.28%), DRB1*16 (8.28%), DRB1*04 (7.36%), DRB1*08 (2.76%), DRB1*14 (0.92%), DQB1*06 (22.08%), DQB1*05 (19.32%), DQB1*02 (18.4%), DQB1*03(DQ7) (15.64%), DQB1*03(DQ8) (4.6%), DQB1*04 (2.76%), DQB1*03(DQ9) (1.84%). The most frequent haplotype observed was HLA-DRB1*15-DQB1*06 (HF 16.3%). The HLA-DRB1*15 showed statistically significant positive association with MS (OR 2.03, 95% CI 1.12-3.50, p=0.008). Conclusion: The results of this study show that the genetic susceptibility with MS in the East Croatia region is linked to the HLA-DRB1*15 which is in concordance with results of the numerous studies in European populations.

multiple sclerosis ; East Croatia ; HLA-DRB1, HLA-DQB1

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