Title |
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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Published in |
PLOS ONE, September 2015
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DOI | 10.1371/journal.pone.0138324 |
Pubmed ID | |
Authors |
Nadia Tinto, Arturo Cola, Chiara Piscopo, Marina Capuano, Martina Galatola, Luigi Greco, Lucia Sacchetti |
Abstract |
Celiac 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. 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. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 1 | 33% |
Romania | 1 | 33% |
United Kingdom | 1 | 33% |
Demographic breakdown
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Scientists | 1 | 33% |
Members of the public | 1 | 33% |
Practitioners (doctors, other healthcare professionals) | 1 | 33% |
Mendeley readers
Geographical breakdown
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Unknown | 29 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Researcher | 7 | 24% |
Student > Ph. D. Student | 5 | 17% |
Student > Bachelor | 4 | 14% |
Student > Doctoral Student | 3 | 10% |
Student > Master | 3 | 10% |
Other | 3 | 10% |
Unknown | 4 | 14% |
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---|---|---|
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Biochemistry, Genetics and Molecular Biology | 5 | 17% |
Immunology and Microbiology | 3 | 10% |
Agricultural and Biological Sciences | 2 | 7% |
Economics, Econometrics and Finance | 2 | 7% |
Other | 1 | 3% |
Unknown | 4 | 14% |