Fequency distribution of HLA DQ2 and DQ8 in celiac patients and first-degree relatives in Recife, northeastern Brazil

Authors

  • Margarida Maria Castro-Antunes Instituto de Medicina Integral Prof. Fernando Figueira - IMIP
  • Sergio Crovella Federal University of Pernambuco; Departament of Genetics
  • Lucas Andre Cavalcanti Brandão Keiso Asami Immunopathology Laboratory
  • Rafael Lima Guimaraes Keiso Asami Immunopathology Laboratory
  • Maria Eugênia Farias Almeida Motta Federal University of Pernambuco; Health Sciences Center; Department of Postgraduate Studies on Children and Adolescents' Health
  • Giselia Alves Pontes da Silva Keiso Asami Immunopathology Laboratory

DOI:

https://doi.org/10.1590/S1807-59322011000200008

Keywords:

Celiac disease, HLA, Relatives, Genotyping, Diagnosis

Abstract

AIMS: The aim of this study was to evaluate the frequencies of the HLA genotypes DQ2 and DQ8 and the alleles A1*05, A1*0201, B1*0201 and B1*0302 in individuals with celiac disease in Recife, northeastern Brazil. METHODS: HLA DQ2 and DQ8 genotyping was performed for 73 individuals with celiac disease and 126 first-degree relatives with negative transglutaminase serology. The alleles DQA1*05, DQA1*0201, DQB1*02 and DQB1*0302 were identified by sequencing using specific primers and the EU-DQ kit from the Eurospital Laboratory, Trieste, Italy and double-checked by the All Set SPP kit (Dynal). RESULTS: Among the 73 cases, 50 (68.5%) had the genotype DQ2, 13 (17.8%) had DQ8, 5 (6.8%) had DQ2 and DQ8, and 5 did not have any of these genotypes. Among the 5 negative individuals, four had the B1*02 allele and one did not have any of the alleles studied. B1*02 was the most frequent allele in both groups (94% in the patients and 89% in the control relatives). CONCLUSIONS: In this study, celiac disease was associated with the genotypes DQ2 and DQ8. DQ2 predominated, but the distribution of the frequencies was different from what has been found in European populations and was closer to what has been found in the Americas. The high frequencies of the HLA genotypes DQ2 and DQ8 that were found in first-degree relatives would make it difficult to use these HLA genotypes for routine diagnosis of celiac disease in this group.

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Published

2011-01-01

Issue

Section

Clinical Sciences

How to Cite

Fequency distribution of HLA DQ2 and DQ8 in celiac patients and first-degree relatives in Recife, northeastern Brazil . (2011). Clinics, 66(2), 227-231. https://doi.org/10.1590/S1807-59322011000200008