Nuray BILGE, Eda BALKAN, Merve AYKAC, Murat KIZILKAYA
New Trends in Medicine Sciences - 2026;7(1):24-33
This study aimed to investigate whether combined low-resolution HLA class I and class II patterns are associated with radiological disease phenotype and lesion distribution in multiple sclerosis (MS), rather than merely disease susceptibility. 40 MS patients diagnosed according to the McDonald criteria and 40 healthy controls were genotyped using PCR-SSO and Luminex technology. HLA class I (A, B, C) and class II (DRB1, DQ) alleles, binary combinations, haplotypes, and full HLA matches were analyzed. Associations between significant HLA patterns and MRI lesion distribution, annual relapse rate (ARR), and EDSS scores were statistically evaluated. HLA-A03*, HLA-A32*, and HLA-B08* were significantly more frequent in MS patients (p<0.05), whereas HLA-B52* and the B52*-DR15* combination were more frequent in controls, indicating a protective association. The strongest findings were related to lesion distribution: carriers of C*03-DR*04, C*03-DQ*03, C*03 DRB1*04 DQ*03 combinations had significantly increased cortical and juxtacortical lesion burden (p=0.012 and p=0.008). HLA-A03* was associated with higher infratentorial lesion counts (p=0.040). Moreover, patients with full HLA compatibility within affected families demonstrated a significantly higher total T2 lesion load on MRI (p=0.042). These findings indicate that specific HLA class I-II combinations may influence the radiological phenotype and lesion localization in MS rather than solely disease susceptibility. Comprehensive HLA profiling may contribute to understanding individual disease expression and radiological severity in MS.
