HLA-DQB1 Haplotypes and their Relation to Oral Signs Linked to Celiac Disease Diagnosis

Matteo Erriu 1, *, Serena Sanna 2, Annalisa Nucaro 2, Germano Orrù 1, Valentino Garau 1, Caterina Montaldo 1
1 Department of Surgery and Odontostomatological Sciences, University of Cagliari. Cagliari
2 Neurogenetic and Neuropharmacology Institute, Italian National Research Council (CNR)

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© Erriu et al.; Licensee Bentham Open.

open-access license: This is an open access article licensed under the terms of the Creative Commons Attribution Non-Commercial License ( which permits unrestricted, non-commercial use, distribution and reproduction in any medium, provided the work is properly cited.

* Address correspondence to this author at the Via Binaghi 4, 09121 Cagliari (CA)’ Tel: (+39) 070537437; Fax: (+39) 070537437; E-mail:



Celiac disease (CD) is an autoimmune disorder that can be divided into typical and atypical forms. Atypical forms can show extraintestinal manifestations among which oral signs are very frequent. Considering that the pathogenesis of CD is related to a positivity to specific HLA-DQB1 haplotypes, we tested whether the presence of the HLA-DQB1*02 allele could be a hypothetical cause of the development of oral manifestations.

Subjects and Methods:

For this study was been examined the oral condition of 98 Sardinian patients, all affected by CD and all on a gluten-free diet for at least 1 year. Then was been determined each patient’s HLA-DQB1 haplotype and compared these results with clinical information.


The statistical analysis evidenced that the absence of the HLA-DQB1*02 allele predisposes to oral manifestations such as dental enamel defects (DED) and recurrent aphthous stomatitis (RAS) (Pvalue=5.98x10-05, OR = 0.23, CI: (0.10 - 0.45) per each copy of the HLA allele).


These results showed that the presence of the HLA-DQB1*02 allele influences the development of oral signs in a dose-dependent manner and also how the HLA haplotype connected to oral signs could have a fundamental role for the diagnosis of atypical forms of CD.

Keywords: Celiac disease, HLA, oral pathology.