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Clinical relevance of typing HLA-DR7-DQ2 haplotype in celiac disease

Juan Francisco Delgado De La Poza1*, María José Amengual Guedán1, Anna Veraguas Imbernon1, Encarnación Rodríguez Sánchez1, Mariela Mercedes De Los Santos De Pelegrin2 and María Pilar Guallarte Alias2
  • 1 UDIAT-CD. Corporació Sanitària i Universitària Parc Taulí, Immunology Section, Laboratory, Spain
  • 2 Hospital de Sabadell. Corporació Sanitària i Universitària Parc Taulí, Pediatric Service, Spain

Celiac disease is a systemic immune-mediated disease that affects genetically predisposed individuals when they are in contact with a gluten diet. It has a strong association with HLA-DQ2 and HLA-DQ8 haplotypes. These haplotypes have the ability to present gliadin peptides to reactive T cells in gut. More than 95% of patients present HLA-DQ2 heterodimer in cis (HLA-DR3-DQA1*05:01-DQB1*02:01) or in trans (HLA-DR7-DQA1*02:01-DQB1*02:02; DR11-DQA*05:05-DQB1*03:01). The rest presents HLA-DQ8 heterodimer (DR4-DQA1*03:01-DQB1*03:02).

The aim of this study was to compare clinical, histological and analytical characteristics of celiac patients carrying HLA-DR7-DQ2 versus HLA-DR3-DQ2 haplotypes. Since 2010 we have typed the HLA-DR7-DQ2 together with HLA-DR3-DQ2 for testing HLA-DQ2.

A total of 85 celiac disease patients were studied, 96.5% were HLA-DQ2 and 4.7% were HLA-DQ8. 16.5% of patients carried only HLA-DR7-DQ2 haplotype, 63.5% carried only HLA-DR3-DQ2 and 16.5% carried HLA-DR3-DQ2 together with HLA-DR7-DQ2. We did not find significant differences between HLA-DR7-DQ2 and HLA-DR3-DQ2 patients with respect to histological damage and anti-tissue transglutaminase and anti-endomysium autoantibody levels. We also compared clinical characteristics and we did not observe significant differences between these haplotypes except for irritability. This characteristic is more frequently associated with HLA-DR7-DQ2 than HLA-DR3-DQ2 patients (14.3% vs. 0.0%, p=0.040).

In contrast to what has been published by some groups, celiac patients with HLA-DR7-DQ2 haplotype have the same clinical behaviour than HLA-DR3-DQ2 patients. Moreover there is a stronger association with irritability in HLA-DR7-DQ2 patients.
For a correct typing HLA-DQ2, HLA-DR7-DQ2 haplotype has to be performed due to its frequency and clinical presentation, at least in our geographical population.

References

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Keywords: Celiac Disease, HLA-DQ2, HLA-DQ2.2, HLA-DR7-DQ2, HLA-DR3-DQ2

Conference: 15th International Congress of Immunology (ICI), Milan, Italy, 22 Aug - 27 Aug, 2013.

Presentation Type: Abstract

Topic: Immune-mediated disease pathogenesis

Citation: Delgado De La Poza J, Amengual Guedán M, Veraguas Imbernon A, Rodríguez Sánchez E, De Los Santos De Pelegrin M and Guallarte Alias M (2013). Clinical relevance of typing HLA-DR7-DQ2 haplotype in celiac disease. Front. Immunol. Conference Abstract: 15th International Congress of Immunology (ICI). doi: 10.3389/conf.fimmu.2013.02.00014

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Received: 08 Mar 2013; Published Online: 22 Aug 2013.

* Correspondence: Mr. Juan Francisco Delgado De La Poza, UDIAT-CD. Corporació Sanitària i Universitària Parc Taulí, Immunology Section, Laboratory, Sabadell, Barcelona, 08208, Spain, jdelgado@tauli.cat