HLA-DQ distribution and risk assessment of celiac disease in a Spanish center
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 re...
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| Format: | Article |
| Language: | English |
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Aran Ediciones
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| Series: | Revista Espanola de Enfermedades Digestivas |
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| Online Access: | http://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S1130-01082018000700003&lng=en&tlng=en |
| _version_ | 1818355887046131712 |
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| author | Eva Martínez-Ojinaga Manuel Molina Isabel Polanco Elena Urcelay Concepción Núñez |
| author_facet | Eva Martínez-Ojinaga Manuel Molina Isabel Polanco Elena Urcelay Concepción Núñez |
| author_sort | Eva Martínez-Ojinaga |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-13T19:48:27Z |
| format | Article |
| id | doaj.art-6b57e45f4e774c85b7e0cab135b0063f |
| institution | Directory Open Access Journal |
| issn | 1130-0108 |
| language | English |
| last_indexed | 2024-12-13T19:48:27Z |
| publisher | Aran Ediciones |
| record_format | Article |
| series | Revista Espanola de Enfermedades Digestivas |
| spelling | doaj.art-6b57e45f4e774c85b7e0cab135b0063f2022-12-21T23:33:30ZengAran EdicionesRevista Espanola de Enfermedades Digestivas1130-0108110742142610.17235/reed.2018.5399/2017S1130-01082018000700003HLA-DQ distribution and risk assessment of celiac disease in a Spanish centerEva Martínez-OjinagaManuel MolinaIsabel PolancoElena UrcelayConcepción NúñezABSTRACT 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.http://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S1130-01082018000700003&lng=en&tlng=enDisease riskGenetic susceptibilityGenotypeHLA |
| spellingShingle | Eva Martínez-Ojinaga Manuel Molina Isabel Polanco Elena Urcelay Concepción Núñez HLA-DQ distribution and risk assessment of celiac disease in a Spanish center Revista Espanola de Enfermedades Digestivas Disease risk Genetic susceptibility Genotype HLA |
| title | HLA-DQ distribution and risk assessment of celiac disease in a Spanish center |
| title_full | HLA-DQ distribution and risk assessment of celiac disease in a Spanish center |
| title_fullStr | HLA-DQ distribution and risk assessment of celiac disease in a Spanish center |
| title_full_unstemmed | HLA-DQ distribution and risk assessment of celiac disease in a Spanish center |
| title_short | HLA-DQ distribution and risk assessment of celiac disease in a Spanish center |
| title_sort | hla dq distribution and risk assessment of celiac disease in a spanish center |
| topic | Disease risk Genetic susceptibility Genotype HLA |
| url | http://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S1130-01082018000700003&lng=en&tlng=en |
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