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HLA Polymorphisms and Clinical Manifestations in IgA Vasculitis
Martina Held1, Katarina Stingl Jankovic2, Mario Sestan1
1Department of Pediatrics, University Hospital Centre Zagreb, University of Zagreb School of Medicine, 10000 Zagreb, Croatia.
International Journal of Molecular Sciences
|January 23, 2024
Summary
Certain human leukocyte antigen (HLA) gene variations are linked to IgA vasculitis (IgAV) susceptibility in Croatian children. These HLA polymorphisms may also influence disease presentation, including gastrointestinal issues and nephritis.
Area of Science:
- Immunogenetics
- Pediatric Rheumatology
Background:
- IgA vasculitis (IgAV) is a common childhood small-vessel vasculitis.
- Genetic factors, particularly the HLA-DRB1 gene, are implicated in IgAV susceptibility.
Purpose of the Study:
- To investigate human leukocyte antigen (HLA) polymorphisms in Croatian IgAV patients.
- To determine the influence of HLA variations on IgAV susceptibility and clinical heterogeneity.
Main Methods:
- Genomic DNA was analyzed from 130 children with IgAV and 202 healthy controls.
- HLA-A, -B, -DRB1, and -DQB1 gene polymorphisms were assessed using high-resolution typing.
Main Results:
- HLA-A*03, HLA-B*37, and HLA-DRB1*12 alleles were significantly more frequent in IgAV patients.
- Specific HLA-DRB1 alleles (HLA-DRB1*10:01, -DRB1*11:03) were associated with gastrointestinal manifestations.
- HLA-DRB1*14:01P was linked to an increased risk of developing nephritis.
Conclusions:
- Specific HLA alleles are associated with susceptibility to IgAV in the Croatian pediatric population.
- HLA profiling may aid in understanding the genetic basis of IgAV and other autoimmune diseases.
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