HLA-DQ typing in the diagnostic algorithm of celiac disease
Rev. esp. enferm. dig
; 104(5): 248-254, mayo 2012.
Artigo
em Inglês
| IBECS
| ID: ibc-100302
Biblioteca responsável:
ES1.1
Localização: BNCS
ABSTRACT
Objective:
celiac disease (CD) is an immune-mediated chronic inflammatory disease associated with HLA-DQ2 and DQ8 molecules. We evaluated the role of HLA in the CD diagnostic algorithm in order to contribute to the development of practical indications for the use of HLA typing. Material andmethods:
we selected 317 subjects typed for DR-DQ genes. CD was present in 123 patients, and 89 were included in the study; a control sample of 70 healthy individuals was recruited.Results:
64% of patients with CD carried DQ2 heterodimer (a5b2), 13.5% carried DQ8 heterodimer without DQ2, 21.4% only showed b2 chain and 1.1% were positive for DQ2 a5 chain. The only presence of a5 chain did not predispose to CD, while DQB1*02 allele resulted more frequent than in other reports, pointing out the intrinsic correlation between b2 chain and CD. In the case-control study we observed a progression of increased risk, ranging from 17 for HLA-DQ2 homozygous to 185 for DQ8 heterozygous subjects. Overall, 8,6% of first degree family members were affected, exclusively in presence of HLA-DQ2, -DQ8 or DQB1*02, and CD was significantly more frequent among siblings than parents. Finally, considering the different patterns of clinical presentation among the HLA-DQ risk classes identified we found no relationship between CD clinical presentation and HLA-DQ risk categories.Conclusions:
our results strengthen the evidence that HLA-DQ status strongly influences the development of CD and demonstrate that knowledge of a patients HLA-DQ genotype allows to establish clinically relevant genetic risk profiles(AU)
Texto completo:
Disponível
Coleções:
Bases de dados nacionais
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Espanha
Base de dados:
IBECS
Assunto principal:
Antígenos HLA-DQ
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Doença Celíaca
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Heterozigoto
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Triagem de Portadores Genéticos
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Modelos Genéticos
Tipo de estudo:
Estudo diagnóstico
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Estudo observacional
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Estudo prognóstico
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Fatores de risco
Limite:
Feminino
/
Humanos
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Masculino
Idioma:
Inglês
Revista:
Rev. esp. enferm. dig
Ano de publicação:
2012
Tipo de documento:
Artigo
Instituição/País de afiliação:
Spedali Civili of Brescia/Italy
/
University of Perugia/Italy
/
University of Siena/Italy