Study Identifies DNA Variation Implicated in HLADQ2 / DQ8 Negative Celiacs

DQ7 Haplotype wpCeliac disease (CD) has a strong genetic component mainly due to HLA DQ2/DQ8 encoding genes. However, a minority of CD patients are DQ2/DQ8-negative. To address this issue, we retrospectively characterized HLA haplotypes in 5,535 subjects at risk of CD (either relatives of CD patients or subjects with CD-like symptoms) referred to our center during a 10-year period.

  • High Frequency of Haplotype HLA-DQ7 in Celiac Disease Patients from South Italy: Retrospective Evaluation of 5,535 Subjects at Risk of Celiac Disease,

We identified loci DQA1/DQB1/DRB1 by sequence-specific oligonucleotide-PCR and sequence-specific primer-PCR; anti transglutaminase IgA/IgG and anti-endomysium IgA by ELISA and indirect immunofluorescence, respectively.

We diagnosed CD in 666/5,535 individuals, 4.2% of whom were DQ2/DQ8-negative. Interestingly, DQ7 was one of the most abundant haplotypes in all CD patients and significantly more frequent in DQ2/DQ8-negative (38%) than in DQ2/DQ8-positive CD patients (24%) (p<0.05).

Our data lend support to the concept that DQ7 represents an additive or independent CD risk haplotype with respect to DQ2/DQ8 haplotypes but this finding should be verified in other large CD populations.

Study Authors

1 Nadia Tinto, Arturo Cola 1,2, Chiara Piscopo 1,2, Marina Capuano 1,2, Martina Galatola 1,3, Luigi Greco 3 , Lucia Sacchetti 2
1 Department of Molecular Medicine and Medical Biotechnology, University of Naples “ Federico II”, Naples,
Italy, 2 CEINGE–Advanced Biotechnology, s. c. a r. l., Naples, Italy, 3 Department of Translational Medical
Sciences, Section of Pediatrics, University of Naples “Federico II”, Naples, Italy