{"doi":"10.1097/mpg.0b013e31827913f9","title":"Human Leukocyte Antigen DQ2.2 and Celiac Disease","abstract":"<jats:title>ABSTRACT</jats:title><jats:p>Patients with celiac disease (CD) lacking both human leukocyte antigen (HLA)‐DQ2.5 in <jats:italic>cis</jats:italic> (DQA1*05:01, DQB1*02:01) or <jats:italic>trans</jats:italic> (DQA1*05:05, DQB1*02:02) configuration and HLA‐DQ8 (DQA1*03:01, DQB1*03:02) are considered to be rare. Therefore, absence of these genotypes is commonly used to exclude the diagnosis of CD. To investigate whether this approach is justified, the HLA‐distribution in 155 children with CD was studied. A total of 139 (89.7%) patients carried HLA‐DQ2.5. Of the remaining patients, 7 (4.5%) carried HLA‐DQ8. Interestingly, the 9 (5.8%) patients lacking HLA‐DQ2.5 and HLA‐DQ8 carried HLA‐DQA1*02:01 and ‐DQB1*02:02 (HLA‐DQ2.2). Therefore, HLA‐DQ2.2 should be included as an important HLA‐type related to CD.</jats:p>","journal":"Journal of Pediatric Gastroenterology and Nutrition","year":2013,"id":615465,"datarank":0.5837730447165941,"base_score":3.8918202981106265,"endowment":3.8918202981106265,"self_citation_contribution":0.5837730447165941,"citation_network_contribution":0.0,"self_endowment_contribution":0.5837730447165941,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":48,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":768041,"name":"Eric Spierings","orcid":"0000-0001-9441-1019","position":1,"is_corresponding":false},{"id":1586370,"name":"Victorien Wolters","orcid":null,"position":2,"is_corresponding":false},{"id":1586371,"name":"Ingrid van Hoogstraten","orcid":null,"position":3,"is_corresponding":false},{"id":1586372,"name":"C.M. Frank Kneepkens","orcid":null,"position":4,"is_corresponding":false},{"id":1586373,"name":"Roderick Houwen","orcid":null,"position":5,"is_corresponding":false},{"id":1586369,"name":"Amani Mubarak","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Human Leukocyte Antigen DQ2.2 and Celiac Disease","abstract":"<jats:title>ABSTRACT</jats:title><jats:p>Patients with celiac disease (CD) lacking both human leukocyte antigen (HLA)‐DQ2.5 in <jats:italic>cis</jats:italic> (DQA1*05:01, DQB1*02:01) or <jats:italic>trans</jats:italic> (DQA1*05:05, DQB1*02:02) configuration and HLA‐DQ8 (DQA1*03:01, DQB1*03:02) are considered to be rare. Therefore, absence of these genotypes is commonly used to exclude the diagnosis of CD. To investigate whether this approach is justified, the HLA‐distribution in 155 children with CD was studied. A total of 139 (89.7%) patients carried HLA‐DQ2.5. Of the remaining patients, 7 (4.5%) carried HLA‐DQ8. Interestingly, the 9 (5.8%) patients lacking HLA‐DQ2.5 and HLA‐DQ8 carried HLA‐DQA1*02:01 and ‐DQB1*02:02 (HLA‐DQ2.2). Therefore, HLA‐DQ2.2 should be included as an important HLA‐type related to CD.</jats:p>","is_dataset_classified":null,"base_score":3.8918202981106265,"endowment":3.8918202981106265,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"23085892","pmcid":null,"openalex_id":"https://openalex.org/W2085316529","authors":[],"funders":[],"total_grants":0,"fwci":2.6504,"citation_percentile":0.8962298,"influential_citations":0,"citation_trend":[{"year":2012,"count":1},{"year":2014,"count":6},{"year":2015,"count":6},{"year":2016,"count":6},{"year":2017,"count":5},{"year":2018,"count":4},{"year":2019,"count":6},{"year":2020,"count":6},{"year":2021,"count":2},{"year":2022,"count":1},{"year":2023,"count":1},{"year":2024,"count":2},{"year":2025,"count":1}],"oa_status":"closed","license":"http://onlinelibrary.wiley.com/termsAndConditions#vor","oa_locations":[{"url":"https://onlinelibrary.wiley.com/doi/pdf/10.1097/MPG.0b013e31827913f9","host_type":"publisher"},{"url":"https://doi.org/10.1097/mpg.0b013e31827913f9","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/23085892","host_type":"repository"},{"url":"https://pure.amsterdamumc.nl/en/publications/9421d3d0-b074-4183-b5c0-779a2122cebe","host_type":"repository"},{"url":"https://research.vumc.nl/en/publications/b10bd4a0-fa67-4577-8d7d-981773461de0","host_type":"repository"}],"fields_of_study":["Celiac Disease Research and Management","Microscopic Colitis","Galectins and Cancer Biology","Alleles","Biomarkers","Celiac Disease","Child","Cohort Studies","Exons","Female","Genetic Association Studies","Genetic Predisposition to Disease","HLA-DQ Antigens","HLA-DQ alpha-Chains","HLA-DQ beta-Chains","Humans","Leukocytes","Male","Netherlands","Prospective Studies","Protein Isoforms","Retrospective Studies"],"mesh_terms":["Alleles","Celiac Disease","Child","Exons","Female","HLA-DQ Antigens","Humans","Leukocytes","Male","Netherlands","Prospective Studies","Retrospective Studies","Cohort Studies","Biomarkers","Genetic Predisposition to Disease","Protein Isoforms","Genetic Association Studies","HLA-DQ alpha-Chains","HLA-DQ beta-Chains"],"keywords":["Human leukocyte antigen","Medicine","HLA-DQ","Disease","Immunology","Antigen","Genotype","Coeliac disease","Internal medicine","Genetics","Gene","Haplotype","Biology"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-02T20:05:53.973813Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}