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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{"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", "type"=>"journal", "authors"=>[{"first_name"=>"Nadia", "last_name"=>"Tinto", "scopus_author_id"=>"6508369091"}, {"first_name"=>"Arturo", "last_name"=>"Cola", "scopus_author_id"=>"54408373000"}, {"first_name"=>"Chiara", "last_name"=>"Piscopo", "scopus_author_id"=>"56958284100"}, {"first_name"=>"Marina", "last_name"=>"Capuano", "scopus_author_id"=>"24340497000"}, {"first_name"=>"Martina", "last_name"=>"Galatola", "scopus_author_id"=>"26430578500"}, {"first_name"=>"Luigi", "last_name"=>"Greco", "scopus_author_id"=>"36787260500"}, {"first_name"=>"Lucia", "last_name"=>"Sacchetti", "scopus_author_id"=>"7006320673"}], "year"=>2015, "source"=>"PLoS ONE", "identifiers"=>{"pmid"=>"26398634", "doi"=>"10.1371/journal.pone.0138324", "issn"=>"19326203", "scopus"=>"2-s2.0-84946906022", "pui"=>"606828606", "sgr"=>"84946906022"}, "id"=>"42eb47ec-7d1f-3c5e-8312-32e26a7e558e", "abstract"=>"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.", "link"=>"http://www.mendeley.com/research/high-frequency-haplotype-hladq7-celiac-disease-patients-south-italy-retrospective-evaluation-5535-su", "reader_count"=>6, "reader_count_by_academic_status"=>{"Student > Doctoral Student"=>2, "Researcher"=>1, "Student > Master"=>1, "Student > Bachelor"=>1, "Other"=>1}, "reader_count_by_user_role"=>{"Student > Doctoral Student"=>2, "Researcher"=>1, "Student > Master"=>1, "Student > Bachelor"=>1, "Other"=>1}, "reader_count_by_subject_area"=>{"Medicine and Dentistry"=>5, "Agricultural and Biological Sciences"=>1}, "reader_count_by_subdiscipline"=>{"Medicine and Dentistry"=>{"Medicine and Dentistry"=>5}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>1}}, "group_count"=>0}

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Figshare

  • {"files"=>["https://ndownloader.figshare.com/files/2285721"], "description"=>"<p>CD, celiac disease</p><p><sup>a</sup>Genotypes were based on the presence of the following haplotypes: DQ2.5 = DQA1*05-DQB1*02 (DRB1*03) alleles; DQ2.2 = DQA1*02-DQB1*02 (DRB1*07) alleles; DQ2.3 = DQA1*03-DQB1*02 (DRB1*04/09/11) alleles; DQ8 = DQA1*03-DQB1*0302 (DRB1*04) alleles</p><p><sup>b</sup>Statistically significant differences between CD-relatives (n = 3662) and with CD-like symptoms (n = 1207) subjects; <i>p</i><0.001 at χ<sup>2</sup> test</p><p><sup>c</sup>DQX refers to: DQ7 = DQB1*0301 (DRB1*11/12/X) alleles; DQ4, DQ5, DQ6 and DQ9, if DQB1*04, DQB1*05, DQB1*06 and DQB1*0303 alleles were present, respectively</p><p><sup>d</sup>Statistically significant differences, <i>p</i><0.001 at χ<sup>2</sup> test, between DQ2/DQ8 (+) and DQ2/DQ8 (-) unaffected subjects.</p><p>Frequencies of HLA-DQ genotypes (A) and haplotypes (B) detected in unaffected subjects (n = 4869) from south Italy.</p>", "links"=>[], "tags"=>["Celiac Disease BackgroundCeliac disease", "dqa", "DQ 7", "hla", "CD patients", "elisa", "CD risk haplotype", "Celiac Disease Patients"], "article_id"=>1554024, "categories"=>["Uncategorised"], "users"=>["Nadia Tinto", "Arturo Cola", "Chiara Piscopo", "Marina Capuano", "Martina Galatola", "Luigi Greco", "Lucia Sacchetti"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0138324.t002", "stats"=>{"downloads"=>0, "page_views"=>2, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Frequencies_of_HLA_DQ_genotypes_A_and_haplotypes_B_detected_in_unaffected_subjects_n_4869_from_south_Italy_/1554024", "title"=>"Frequencies of HLA-DQ genotypes (A) and haplotypes (B) detected in unaffected subjects (n = 4869) from south Italy.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2015-09-23 03:36:14"}
  • {"files"=>["https://ndownloader.figshare.com/files/2285719"], "description"=>"<p>Characteristics, age and presence/absence of HLA-DQ2/DQ8 in a population at risk of CD (relatives of CD- and with CD-like symptoms subjects) attending the Department of Laboratory Medicine of the University of Naples Federico II/CEINGE-Center of Advanced Biotechnology (Naples, Italy) between 2003 and 2013.</p>", "links"=>[], "tags"=>["Celiac Disease BackgroundCeliac disease", "dqa", "DQ 7", "hla", "CD patients", "elisa", "CD risk haplotype", "Celiac Disease Patients"], "article_id"=>1554022, "categories"=>["Uncategorised"], "users"=>["Nadia Tinto", "Arturo Cola", "Chiara Piscopo", "Marina Capuano", "Martina Galatola", "Luigi Greco", "Lucia Sacchetti"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0138324.g001", "stats"=>{"downloads"=>2, "page_views"=>13, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Flow_chart_of_the_subjects_at_risk_of_CD_from_south_Italy_/1554022", "title"=>"Flow-chart of the subjects at risk of CD from south Italy.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2015-09-23 03:36:14"}
  • {"files"=>["https://ndownloader.figshare.com/files/2285720"], "description"=>"<p>CD, celiac disease</p><p><sup>a</sup>Genotypes were based on the presence of the following haplotypes: DQ2.5 = DQA1*05-DQB1*02 (DRB1*03) alleles; DQ2.2 = DQA1*02-DQB1*02 (DRB1*07) alleles; DQ2.3 = DQA1*03-DQB1*02 (DRB1*04/09/11) alleles; DQ8 = DQA1*03-DQB1*0302 (DRB1*04) alleles</p><p><sup>b</sup>Statistically significant differences, <i>p</i><0.001 at χ<sup>2</sup> test between males (M) and females (F)</p><p><sup>c</sup>DQX refers to: DQ7 = DQB1*0301 (DRB1*11/12/X) alleles; DQ4, DQ5, DQ6 and DQ9, were assigned if DQB1*04, DQB1*05, DQB1*06 and DQB1*0303 alleles were present, respectively</p><p><sup>d</sup>Statistically significant differences, <i>p</i><0.05 at χ<sup>2</sup> test, between DQ2/DQ8 (+) and DQ2/DQ8 (-) CD patients</p><p>Frequencies of HLA-DQ genotypes (A) and haplotypes (B) detected in 666 CD patients from south Italy.</p>", "links"=>[], "tags"=>["Celiac Disease BackgroundCeliac disease", "dqa", "DQ 7", "hla", "CD patients", "elisa", "CD risk haplotype", "Celiac Disease Patients"], "article_id"=>1554023, "categories"=>["Uncategorised"], "users"=>["Nadia Tinto", "Arturo Cola", "Chiara Piscopo", "Marina Capuano", "Martina Galatola", "Luigi Greco", "Lucia Sacchetti"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0138324.t001", "stats"=>{"downloads"=>2, "page_views"=>13, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Frequencies_of_HLA_DQ_genotypes_A_and_haplotypes_B_detected_in_666_CD_patients_from_south_Italy_/1554023", "title"=>"Frequencies of HLA-DQ genotypes (A) and haplotypes (B) detected in 666 CD patients from south Italy.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2015-09-23 03:36:14"}

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{"start_date"=>"2015-01-01T00:00:00Z", "end_date"=>"2015-12-31T00:00:00Z", "subject_areas"=>[]}
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