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HLA-DRB1 allele impact on pediatric multiple sclerosis in a Hellenic cohort
Maria Gontika1, Charalampos Skarlis1, Artemios Artemiadis2
1Immunogenetics Laboratory, First Department of Neurology, Medical School,National and Kapodistrian University of Athens, NKUA, Aeginition Hospital, Athens, Greece.
Insights
The HLA-DRB1*03 allele is linked to a higher risk of pediatric-onset multiple sclerosis (POMS) in the Hellenic population. This genetic factor also correlates with increased disease activity, including more relapses and spinal cord lesions.
Area of Science:
- Genetics
- Neurology
- Immunology
Background:
- Pediatric-onset multiple sclerosis (POMS) is a complex neurological disorder with suspected genetic and environmental influences.
- Major histocompatibility complex (MHC) and human leukocyte antigen (HLA) polymorphisms are strongly associated with MS in adult populations.
Purpose of the Study:
- To determine the frequency of HLA-DRB1 alleles in a Hellenic POMS cohort.
- To explore potential clinical and imaging correlations of specific HLA-DRB1 alleles in POMS.
Main Methods:
- Fifty POMS patients were studied, alongside 144 adult-onset MS (AOMS) patients and 246 healthy controls.
- HLA genotyping was performed using standard low-resolution sequence-specific oligonucleotide (SSO) techniques.
- Clinical and imaging data were analyzed for correlations with identified HLA-DRB1 alleles.
Main Results:
- The HLA-DRB1*03 genotype was significantly more prevalent in POMS patients compared to both AOMS patients (26% vs. 12.5%) and the general population (26% vs. 12.6%).
- POMS patients positive for HLA-DRB1*03 exhibited a higher number of relapses (6.9 vs. 4.2) and a greater frequency of thoracic spinal cord lesions (61.5% vs. 27%) compared to HLA-DRB1*03-negative patients.
Conclusions:
- The HLA-DRB1*03 allele appears to confer an increased risk for POMS within the Hellenic population.
- This allele is also associated with potentially heightened disease activity in POMS, contributing to the understanding of HLA associations in this condition.
Background:
Pediatric-onset multiple sclerosis (POMS) is considered a complex disease entity with many genetic and environmental factors implicated in its pathogenesis. Linkage studies in Caucasian adult populations consistently demonstrate the major histocompatibility complex and its HLA (human leukocyte antigen) polymorphisms as the genetic locus most strongly linked to MS.
Objective:
To investigate the frequencies and possible clinical and imaging correlations of HLA-DRB1 alleles in a Hellenic POMS sample.
Methods:
Fifty POMS patients fulfilling the IPMSSG (International Pediatric Multiple Sclerosis Study Group) criteria were enrolled using 144 adult-onset MS (AOMS) patients and 246 healthy controls for comparisons. HLA genotyping was performed with standard low-resolution sequence-specific oligonucleotide (SSO) techniques. Clinical and imaging correlations with specific HLA-DRB1 alleles were also examined.
Results:
The HLA-DRB1*03 genotype was significantly higher in POMS patients compared to both the AOMS population (26% vs. 12.5%, p = 0.042) and the general population (26% vs. 12.6%, p = 0.004). HLA-DRB1*03-positive POMS patients had significantly more relapses (6.9 ± 4.9 vs. 4.2 ± 4.4, p = 0.005) and more thoracic spinal cord lesions than HLA-DRB1*03-negative patients (61.5% vs. 27%, p = 0.043).
Conclusion:
In our Hellenic population, HLA-DRB1*03 allele confers increased risk for POMS and it is also correlated with possibly increased disease activity, expanding the existing knowledge on HLA associations and POMS.
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