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HLA-DQB1*02 Dose Effect on RIA Anti-tissue Transglutaminase Autoantibody Levels and Clinicopathological Expressivity of Celiac Disease

Nenna, Raffaella*; Mora, Barbara; Megiorni, Francesca; Mazzilli, Maria Cristina; Magliocca, Fabio Massimo; Tiberti, Claudio; Bonamico, Margherita*

Journal of Pediatric Gastroenterology & Nutrition: September 2008 - Volume 47 - Issue 3 - p 288–292
doi: 10.1097/MPG.0b013e3181615ca7
Original Articles: Gastroenterology

Objectives: Celiac disease is an autoimmune enteropathy caused by gluten ingestion in genetically susceptible individuals. Anti-transglutaminase autoantibody (tTGAb) assay is useful to detect candidates undergoing intestinal biopsy. Our aim was to investigate whether the DQB1*02 allele could influence tTGAb titers and the clinicopathological expressivity of the disease.

Methods: A total of 124 patients with celiac disease, tested for RIA tTGAb at diagnosis, were typed for HLA-DRB1, -DQA1, and -DQB1 genes and divided according to the number of DQB1*02 alleles: group 1, homozygous; group 2, heterozygous; group 3, negative.

Results: The mean of tTGAb indexes was significantly higher in group 1 patients than in group 2 (P < 0.02) and group 3 patients (P < 0.01). Patients with at least 1 DQB1*02 allele showed more often a typical CD and diffuse histological lesions than did patients in the other groups.

Conclusions: The study demonstrates that tTGAb titers are HLA-DQB1*02 dose dependent, with significantly higher levels in homozygous individuals. Moreover, individuals with at least 1 HLA-DQB1*02 allele tend to have a more expressed clinical and histological form of celiac disease.

*Departments of Paediatrics, Italy

Experimental Medicine, Italy

Clinical Sciences, “Sapienza” University, Rome, Italy

Received 31 May, 2007

Accepted 2 November, 2007

Address correspondence and reprint requests to Prof Margherita Bonamico, Department of Paediatrics, Sapienza University, V.le Regina Elena 324, 00161, Rome, Italy (e-mail:

The authors report no conflicts of interest.

© 2008 Lippincott Williams & Wilkins, Inc.