HLA-DQ distribution and risk assessment of celiac disease in a Spanish center
Rev. esp. enferm. dig
; 110(7): 421-426, jul. 2018. tab, graf
Artigo
em Inglês
| IBECS
| ID: ibc-177705
Biblioteca responsável:
ES1.1
Localização: BNCS
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 diseaseRESUMEN
No disponible
Texto completo:
Disponível
Coleções:
Bases de dados nacionais
/
Espanha
Base de dados:
IBECS
Assunto principal:
Antígenos HLA-DQ
/
Doença Celíaca
/
Técnicas de Genotipagem
Limite:
Adolescente
/
Criança
/
Criança, pré-escolar
/
Feminino
/
Humanos
/
Lactente
/
Masculino
Idioma:
Inglês
Revista:
Rev. esp. enferm. dig
Ano de publicação:
2018
Tipo de documento:
Artigo
Instituição/País de afiliação:
Hospital Universitario La Paz/Spain
/
Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC)/Spain