HLA DRB1*1501 is only modestly associated with lesion burden at the first demyelinating event

Dana Horakova1, Robert Zivadinov, Bianca Weinstock-Guttman

  • 1Department of Neurology and Center of Clinical Neuroscience, Charles University in Prague, 1st Faculty of Medicine and General University Hospital, Charles University, Prague, Czech Republic.

Abstract

Insights

The HLA DRB1*1501 genotype is linked to multiple sclerosis (MS) risk. This study found HLA DRB1*1501 positivity associated with increased inflammatory brain lesions in early MS, but clinical usefulness is limited.

Area of Science:

  • Neuroimmunology
  • Genetics
  • Radiology

Background:

  • Multiple sclerosis (MS) risk is associated with MRI lesions and HLA DRB1*1501 genotype.
  • Quantitative MRI parameters at the first demyelinating event are crucial for understanding MS progression.
  • The relationship between HLA DRB1*1501 and MRI measures in early MS remains unclear.

Purpose of the Study:

  • To investigate the association between HLA DRB1*1501 genotype and MRI measures in patients experiencing their first demyelinating event.
  • To assess if HLA DRB1*1501 status correlates with inflammatory activity and lesion load on MRI.
  • To determine the potential of HLA DRB1*1501 as a biomarker for early MS disease activity.

Main Methods:

  • Genotyping for rs3135005 (proxy for HLA DRB1*1501) in 205 patients with clinically isolated syndromes (CIS).
  • Inclusion criteria: 2+ brain MRI lesions and oligoclonal bands in CSF.
  • MRI and clinical assessments performed within 4 months of the initial demyelinating event.

Main Results:

  • HLA DRB1*1501 positivity was observed in 49.7% of patients.
  • HLA DRB1*1501 positivity correlated with a higher number and volume of contrast-enhancing (CE) lesions.
  • A trend towards higher T2 lesion volume was noted, but no significant associations with atrophy or disability were found.

Conclusions:

  • HLA DRB1*1501 positivity is linked to increased inflammatory processes in the brain at the onset of demyelination.
  • The observed associations between HLA DRB1*1501 and MRI findings are modest.
  • The clinical utility of HLA DRB1*1501 as a predictive marker for early MS activity requires further investigation.

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