RESUMO
Studies concerning the genetic background of IgA vasculitis (IgAV), a small-vessel vasculitis occurring predominantly in childhood, have confirmed that the HLA-DRB1 gene showed a strong association with disease susceptibility. The objective was to investigate human leukocyte antigen (HLA) polymorphisms among Croatian patients with IgAV and their influence on disease susceptibility and clinical heterogeneity. Thus, 130 children with IgAV and 202 unrelated healthy individuals were enrolled in the study. Genomic DNA was extracted from whole peripheral blood, and HLA-A, -B, -DRB1 and -DQB1 gene polymorphism analysis was performed. HLA-A*03 (21.4% vs. 12.38%, p = 0.0092), HLA-B*37 (2.9% vs. 0.2%, p = 0.0054) and HLA-DRB1*12 (3.1% vs. 0.7%, p = 0.0216) alleles were significantly more frequent in IgAV patients than in controls. High-resolution typing revealed significantly higher frequency of HLA-DRB1*10:01 and -DRB1*11:03 among IgAV patients with gastrointestinal manifestations of the disease in comparison to controls (p = 0.0021 and p = 0.0301, respectively), while HLA-DRB1*14:01P occurred significantly more often in the group of patients who developed nephritis during the course of the disease (17.5% vs. 4.5%, p = 0.0006). Our results demonstrated that there is an association of HLA-A*03, HLA-B*37 and HLA-DRB1*12 alleles with susceptibility to IgAV in the examined Croatian pediatric population. Studies which aim to determine the HLA profile may contribute to the elucidation of the genetic background of autoimmune diseases, including IgAV.
Assuntos
Predisposição Genética para Doença , Antígenos HLA , Vasculite por IgA , Criança , Humanos , Antígenos HLA/genética , Antígenos HLA-A , Antígenos HLA-B , Cadeias HLA-DRB1/genética , Vasculite por IgA/genéticaRESUMO
The aim of this report was to compare our data with data presented in the European Federation for Immunogenetics (EFI) catalogue (version 1.0) and to evaluate whether or not current (CUR) HLA alleles found in the Croatian population fall into the same categories of common (COM) or well-documented (WD) HLA alleles as those listed in the EFI catalogue. Among 237 HLA-A, -B, -DRB1 alleles observed in the Croatian population so far, 181 alleles were observed ≥3 times. According to our criteria, 36 alleles at HLA-A locus, 71 alleles at HLA-B locus and 51 alleles at HLA-DRB1 locus were characterised as CUR in Croatia (COM or WD in EFI catalogue), while 23 local HLA alleles are not listed at all among COM or WD alleles in EFI catalogue.
Assuntos
Antígenos HLA-A/genética , Antígenos HLA-B/genética , Cadeias HLA-DRB1/genética , Haplótipos , Polimorfismo Genético , Sistema de Registros , Alelos , Transplante de Medula Óssea , Croácia , Expressão Gênica , Frequência do Gene , Genética Populacional , Antígenos HLA-A/classificação , Antígenos HLA-A/imunologia , Antígenos HLA-B/classificação , Antígenos HLA-B/imunologia , Cadeias HLA-DRB1/classificação , Cadeias HLA-DRB1/imunologia , Teste de Histocompatibilidade , Humanos , Estudos Retrospectivos , Doadores de TecidosRESUMO
HLA-DRB3 allelic polymorphism on HLA-DRB1*03:01-positive haplotypes was investigated among 104 cadaveric donors typed for HLA-A, -B, -DRB1, and -DRB3. Only HLA-DRB3*01:01:02 and -DRB3*02:02:01:01 alleles were detected among HLA-DRB1*03:01-positive individuals and their distribution depended on HLA-B*08 presence: nearly all HLA-B*08-positive samples carried DRB3*01:01:02, while HLA-DRB3*02:02:01:01 was more frequent among HLA-B*08-negative subjects.