RESUMO
Identification of the novel DQA1*03:31, DQB1*05:01:01:19, DPA1*02:01:01:20 and DPA1*02:01:01:28 alleles by NGS.
Assuntos
Antígenos de Histocompatibilidade Classe II , Alelos , Frequência do Gene , Cadeias beta de HLA-DQ/genética , Haplótipos , Antígenos de Histocompatibilidade Classe II/genética , HumanosRESUMO
BACKGROUND: Recent articles have described patients that share eosinophilic esophagitis (EoE) and celiac disease (CD) suggesting a true relationship between both diseases. AIMS: The purpose of this study was to investigate whether HLA DQ2 and DQ8 predisposing to CD are increased in adult patients with EoE. METHODS: HLA alleles conferring risk for CD was assessed in 75 adult EoE patients attended at two hospitals located in different Spanish regions over the past 2 years. We compared the frequencies to the registered data of 421 healthy kidney and bone marrow donors from our hospitals for the following alleles: (a) DR3-DQ2 haplotype; (b) the combination of DR3-DQ2 and DR4-DQ8; (c) DR4-DQ8 haplotype; (d) the simultaneous presence of the DR5-DQ7 and DR7-DQ2 haplotypes; and lastly (e) any combination of haplotypes not conferring risk for the development of CD. RESULTS: The HLA DQ2 and DQ8 alleles were analyzed in 58 adult EoE patients from hospital #1 and in 20 patients from hospital #2, and they were compared to recorded HLA genotyping data from 298 and 123 healthy donors, respectively. No differences were found between the distribution of the HLA frequencies of the patients and controls at both hospitals and the data could be combined. EoE patients did not show increased frequencies of DQ2 and DQ8 alleles compared to controls. CONCLUSIONS: Our work does not allow us to establish a common genetic basis for EoE and CD because an increased frequency of the HLA DQ2 and DQ8 alleles predisposing to CD was not observed in adult EoE patients compared to controls.
