HLA-DQ distribution and risk assessment of celiac disease in a Spanish center.
Rev Esp Enferm Dig
; 110(7): 421-426, 2018 07.
Article
em En
| MEDLINE
| ID: mdl-29699404
ABSTRACT
AIMS:
celiac disease is a multisystem immune-mediated disease triggered by gluten in genetically susceptible individuals. The HLA-DQ2 and/or HLA-DQ8 heterodimers are encoded by the main genetic predisposing factors and their presence is required for the development of the immunological response that leads to the disease. However, the HLA-conferred risk can differ within different countries. The aim of the study was to analyze the risk of Spanish children to develop celiac disease according to their HLA-DQ genotype.METHODS:
a retrospective observational case-control study was performed using a sample of 475 celiac patients and 628 controls.RESULTS:
children carrying the HLA-DQ2.5 had the highest disease risk, especially those with two HLA-DQB1*02 alleles. A similar high risk was observed in HLA-DQ8 homozygous individuals. A risk conferred by HLA-DQ8 in heterozygosity and HLA-DQ2.2 was also found and two patients with celiac disease carried the HLA-DQ7.5 haplotype as the only HLA risk factor.CONCLUSIONS:
there are four genetic risk categories according to the HLA-DQ genotype. The HLA-DQ7.5 genotype does not confer risk but should not be used to rule out celiac disease when a high suspicion of the disease exists. These findings could be relevant to determine when to perform serological screening in asymptomatic subjects at risk of celiac disease.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Antígenos HLA-DQ
/
Doença Celíaca
Tipo de estudo:
Etiology_studies
/
Observational_studies
/
Risk_factors_studies
Limite:
Adolescent
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Child
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Child, preschool
/
Female
/
Humans
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Infant
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Male
/
Newborn
País como assunto:
Europa
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article