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http://purl.uniprot.org/citations/26398634http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/26398634http://www.w3.org/2000/01/rdf-schema#comment"

Background

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.

Methods

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.

Results

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).

Conclusion

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."xsd:string
http://purl.uniprot.org/citations/26398634http://purl.org/dc/terms/identifier"doi:10.1371/journal.pone.0138324"xsd:string
http://purl.uniprot.org/citations/26398634http://purl.uniprot.org/core/author"Tinto N."xsd:string
http://purl.uniprot.org/citations/26398634http://purl.uniprot.org/core/author"Greco L."xsd:string
http://purl.uniprot.org/citations/26398634http://purl.uniprot.org/core/author"Piscopo C."xsd:string
http://purl.uniprot.org/citations/26398634http://purl.uniprot.org/core/author"Sacchetti L."xsd:string
http://purl.uniprot.org/citations/26398634http://purl.uniprot.org/core/author"Capuano M."xsd:string
http://purl.uniprot.org/citations/26398634http://purl.uniprot.org/core/author"Galatola M."xsd:string
http://purl.uniprot.org/citations/26398634http://purl.uniprot.org/core/author"Cola A."xsd:string
http://purl.uniprot.org/citations/26398634http://purl.uniprot.org/core/date"2015"xsd:gYear
http://purl.uniprot.org/citations/26398634http://purl.uniprot.org/core/name"PLoS One"xsd:string
http://purl.uniprot.org/citations/26398634http://purl.uniprot.org/core/pages"e0138324"xsd:string
http://purl.uniprot.org/citations/26398634http://purl.uniprot.org/core/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."xsd:string
http://purl.uniprot.org/citations/26398634http://purl.uniprot.org/core/volume"10"xsd:string
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