High Frequency of Haplotype HLA-DQ7 in Celiac Disease Patients from South Italy: Retrospective Evaluation of 5,535 Subjects at Risk of Celiac Disease |
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| Authors: | Nadia Tinto Arturo Cola Chiara Piscopo Marina Capuano Martina Galatola Luigi Greco Lucia Sacchetti |
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| Affiliation: | 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.; New York State Dept. Health, UNITED STATES, |
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| Abstract: | BackgroundCeliac 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.MethodsWe 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.ResultsWe 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).ConclusionOur 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. |
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