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

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 wi...

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Published inPloS one Vol. 10; no. 9; p. e0138324
Main Authors Tinto, Nadia, Cola, Arturo, Piscopo, Chiara, Capuano, Marina, Galatola, Martina, Greco, Luigi, Sacchetti, Lucia
Format Journal Article
LanguageEnglish
Published United States Public Library of Science 23.09.2015
Public Library of Science (PLoS)
Subjects
Adult
Age
Aged
Aged, 80 and over
Antigens
Autoimmune diseases
Biopsy
Biotechnology
Celiac disease
Celiac Disease - genetics
Disease
DQA1 protein
Drb1 protein
Enzyme-linked immunosorbent assay
Female
Gastroenterology
Gene Frequency
Genes
Genetic aspects
Genetic Predisposition to Disease
Gluten
Haplotypes
Haplotypes - genetics
Health risks
Hepatology
Histocompatibility antigen HLA
HLA antigens
HLA-DQ Antigens - genetics
Humans
Identification methods
Immunofluorescence
Immunoglobulin A
Immunoglobulin G
Italy
Male
Medicine
Middle Aged
Oligonucleotides
Patients
Pediatrics
Physiological aspects
Retrospective Studies
Risk
Risk Factors
Small intestine
Young Adult
Italy
United States > US
Europe
Online AccessGet full text

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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.
AbstractList 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.
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.
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.
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.
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.
Audience Academic
Author Cola, Arturo
Tinto, Nadia
Capuano, Marina
Greco, Luigi
Piscopo, Chiara
Sacchetti, Lucia
Galatola, Martina
AuthorAffiliation New York State Dept. Health, UNITED STATES
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
1 Department of Molecular Medicine and Medical Biotechnology, University of Naples “Federico II”, Naples, Italy
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BackLink https://www.ncbi.nlm.nih.gov/pubmed/26398634$$D View this record in MEDLINE/PubMed
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Conceived and designed the experiments: LS NT. Performed the experiments: AC CP MC. Analyzed the data: MC MG. Contributed reagents/materials/analysis tools: LS LG. Wrote the paper: LS NT.
Competing Interests: The authors have declared that no competing interests exist.
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Snippet 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...
Background Celiac disease (CD) has a strong genetic component mainly due to HLA DQ2/DQ8 encoding genes. However, a minority of CD patients are...
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....
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....
Background Celiac disease (CD) has a strong genetic component mainly due to HLA DQ2/DQ8 encoding genes. However, a minority of CD patients are...
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SubjectTerms Adult
Age
Aged
Aged, 80 and over
Antigens
Autoimmune diseases
Biopsy
Biotechnology
Celiac disease
Celiac Disease - genetics
Disease
DQA1 protein
Drb1 protein
Enzyme-linked immunosorbent assay
Female
Gastroenterology
Gene Frequency
Genes
Genetic aspects
Genetic Predisposition to Disease
Gluten
Haplotypes
Haplotypes - genetics
Health risks
Hepatology
Histocompatibility antigen HLA
HLA antigens
HLA-DQ Antigens - genetics
Humans
Identification methods
Immunofluorescence
Immunoglobulin A
Immunoglobulin G
Italy
Male
Medicine
Middle Aged
Oligonucleotides
Patients
Pediatrics
Physiological aspects
Retrospective Studies
Risk
Risk Factors
Small intestine
Young Adult
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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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http://dx.doi.org/10.1371/journal.pone.0138324
Volume 10
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