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HLA-DQA1 and HLA-DQB1 in Celiac disease predisposition: practical implications of the HLA molecular typing
Celiac disease (CD) is a multifactorial disorder with an estimated prevalence in Europe and USA of 1:100 and a female:male ratio of approximately 2:1. The disorder has a multifactorial etiology in which the triggering environmental factor, the gluten, and the main genetic factors, Human Leukocyte An...
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Published in: | Journal of biomedical science 2012-10, Vol.19 (1), p.88-88 |
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description | Celiac disease (CD) is a multifactorial disorder with an estimated prevalence in Europe and USA of 1:100 and a female:male ratio of approximately 2:1. The disorder has a multifactorial etiology in which the triggering environmental factor, the gluten, and the main genetic factors, Human Leukocyte Antigen (HLA)-DQA1 and HLA-DQB1 loci, are well known. About 90-95% of CD patients carry DQ2.5 heterodimers, encoded by DQA1*05 and DQB1*02 alleles both in cis or in trans configuration, and DQ8 molecules, encoded by DQB1*03:02 generally in combination with DQA1*03 variant. Less frequently, CD occurs in individuals positive for the DQ2.x heterodimers (DQA1≠*05 and DQB1*02) and very rarely in patients negative for these DQ predisposing markers. HLA molecular typing for Celiac disease is, therefore, a genetic test with a negative predictive value. Nevertheless, it is an important tool able to discriminate individuals genetically susceptible to CD, especially in at-risk groups such as first-degree relatives (parents, siblings and offspring) of patients and in presence of autoimmune conditions (type 1 diabetes, thyroiditis, multiple sclerosis) or specific genetic disorders (Down, Turner or Williams syndromes). |
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The disorder has a multifactorial etiology in which the triggering environmental factor, the gluten, and the main genetic factors, Human Leukocyte Antigen (HLA)-DQA1 and HLA-DQB1 loci, are well known. About 90-95% of CD patients carry DQ2.5 heterodimers, encoded by DQA1*05 and DQB1*02 alleles both in cis or in trans configuration, and DQ8 molecules, encoded by DQB1*03:02 generally in combination with DQA1*03 variant. Less frequently, CD occurs in individuals positive for the DQ2.x heterodimers (DQA1≠*05 and DQB1*02) and very rarely in patients negative for these DQ predisposing markers. HLA molecular typing for Celiac disease is, therefore, a genetic test with a negative predictive value. Nevertheless, it is an important tool able to discriminate individuals genetically susceptible to CD, especially in at-risk groups such as first-degree relatives (parents, siblings and offspring) of patients and in presence of autoimmune conditions (type 1 diabetes, thyroiditis, multiple sclerosis) or specific genetic disorders (Down, Turner or Williams syndromes).</description><identifier>ISSN: 1423-0127</identifier><identifier>ISSN: 1021-7770</identifier><identifier>EISSN: 1423-0127</identifier><identifier>DOI: 10.1186/1423-0127-19-88</identifier><identifier>PMID: 23050549</identifier><language>eng</language><publisher>England: BioMed Central Ltd</publisher><subject>Autoimmune diseases ; Autoimmune Diseases - complications ; Autoimmune Diseases - genetics ; Celiac disease ; Celiac Disease - complications ; Celiac Disease - epidemiology ; Celiac Disease - genetics ; Cell adhesion & migration ; Chromosomes ; Development and progression ; Diet ; Disease ; Disease risk ; Europe ; Family ; Fatty acids ; Female ; Genetic counseling ; Genetic Predisposition to Disease ; Genetic screening ; Genetic Testing ; Genetics ; Genomes ; Gluten ; Haplotypes ; Health risk assessment ; Histocompatibility antigens ; HLA histocompatibility antigens ; HLA typing ; HLA-DQ alpha-Chains - genetics ; HLA-DQ beta-Chains - genetics ; HLA-DQA1 ; HLA-DQB1 ; Humans ; Male ; Medical research ; Medicine, Experimental ; Multiple sclerosis ; Proteins ; Review ; Risk Factors ; United States</subject><ispartof>Journal of biomedical science, 2012-10, Vol.19 (1), p.88-88</ispartof><rights>COPYRIGHT 2012 BioMed Central Ltd.</rights><rights>2012 Megiorni and Pizzuti; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.</rights><rights>Copyright ©2012 Megiorni and Pizzuti; licensee BioMed Central Ltd. 2012 Megiorni and Pizzuti; licensee BioMed Central Ltd.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b712t-98aa6f48b13804eaadd34f90e962d970c1fd97cb67325a5ddd38cd59613ff2ce3</citedby><cites>FETCH-LOGICAL-b712t-98aa6f48b13804eaadd34f90e962d970c1fd97cb67325a5ddd38cd59613ff2ce3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3482388/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.proquest.com/docview/1115394572?pq-origsite=primo$$EHTML$$P50$$Gproquest$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,25753,27924,27925,37012,37013,44590,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23050549$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Megiorni, Francesca</creatorcontrib><creatorcontrib>Pizzuti, Antonio</creatorcontrib><title>HLA-DQA1 and HLA-DQB1 in Celiac disease predisposition: practical implications of the HLA molecular typing</title><title>Journal of biomedical science</title><addtitle>J Biomed Sci</addtitle><description>Celiac disease (CD) is a multifactorial disorder with an estimated prevalence in Europe and USA of 1:100 and a female:male ratio of approximately 2:1. The disorder has a multifactorial etiology in which the triggering environmental factor, the gluten, and the main genetic factors, Human Leukocyte Antigen (HLA)-DQA1 and HLA-DQB1 loci, are well known. About 90-95% of CD patients carry DQ2.5 heterodimers, encoded by DQA1*05 and DQB1*02 alleles both in cis or in trans configuration, and DQ8 molecules, encoded by DQB1*03:02 generally in combination with DQA1*03 variant. Less frequently, CD occurs in individuals positive for the DQ2.x heterodimers (DQA1≠*05 and DQB1*02) and very rarely in patients negative for these DQ predisposing markers. HLA molecular typing for Celiac disease is, therefore, a genetic test with a negative predictive value. Nevertheless, it is an important tool able to discriminate individuals genetically susceptible to CD, especially in at-risk groups such as first-degree relatives (parents, siblings and offspring) of patients and in presence of autoimmune conditions (type 1 diabetes, thyroiditis, multiple sclerosis) or specific genetic disorders (Down, Turner or Williams syndromes).</description><subject>Autoimmune diseases</subject><subject>Autoimmune Diseases - complications</subject><subject>Autoimmune Diseases - genetics</subject><subject>Celiac disease</subject><subject>Celiac Disease - complications</subject><subject>Celiac Disease - epidemiology</subject><subject>Celiac Disease - genetics</subject><subject>Cell adhesion & migration</subject><subject>Chromosomes</subject><subject>Development and progression</subject><subject>Diet</subject><subject>Disease</subject><subject>Disease risk</subject><subject>Europe</subject><subject>Family</subject><subject>Fatty acids</subject><subject>Female</subject><subject>Genetic counseling</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetic screening</subject><subject>Genetic Testing</subject><subject>Genetics</subject><subject>Genomes</subject><subject>Gluten</subject><subject>Haplotypes</subject><subject>Health risk assessment</subject><subject>Histocompatibility antigens</subject><subject>HLA histocompatibility antigens</subject><subject>HLA typing</subject><subject>HLA-DQ alpha-Chains - genetics</subject><subject>HLA-DQ beta-Chains - genetics</subject><subject>HLA-DQA1</subject><subject>HLA-DQB1</subject><subject>Humans</subject><subject>Male</subject><subject>Medical research</subject><subject>Medicine, Experimental</subject><subject>Multiple sclerosis</subject><subject>Proteins</subject><subject>Review</subject><subject>Risk Factors</subject><subject>United States</subject><issn>1423-0127</issn><issn>1021-7770</issn><issn>1423-0127</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>PIMPY</sourceid><sourceid>DOA</sourceid><recordid>eNqFks9rFDEUxwdRbK2evUnAi5dp83sSD8J2rbawIIKeQyY_tllmJmMyW-h_b6bbrl2pSA7v1_d9eLyXqnqL4ClCgp8hikkNEW5qJGshnlXH-8zzR_5R9SrnDYSISdG8rI4wgQwyKo-rzeVqUX_-vkBADxbsgnMEwgCWrgvaABuy09mBMbnijjGHKcThY4m1mYLRHQj92BVnTmcQPZiu3QwCfeyc2XY6gel2DMP6dfXC6y67N_f2pPr55eLH8rJefft6tVys6rZBeKql0Jp7KlpEBKROa2sJ9RI6ybGVDTTIF2Na3hDMNLOlLIxlkiPiPTaOnFRXO66NeqPGFHqdblXUQd0lYlorncronVMeN55TQzknDdXGCky8oJS3kmjHHSysTzvWuG17Z40bpqS7A-hhZQjXah1vFKGFJUQBnO8AbYj_ABxWTOzVfDc1300hqe4gH-6nSPHX1uVJ9SEb13V6cHGbFSJYMAQlwf-XIkwbJrigRfr-L-kmbtNQTlNUiBFJWYP_qNa6LCwMPpYxzQxVC0bKoAJBVFSnT6jKs64PJg7Oh5I_aDjbNZgUc07O71eCoJq_9hNLePf4FHv9w18mvwErQ_Dj</recordid><startdate>20121011</startdate><enddate>20121011</enddate><creator>Megiorni, Francesca</creator><creator>Pizzuti, Antonio</creator><general>BioMed Central Ltd</general><general>BioMed Central</general><general>BMC</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7QL</scope><scope>7QO</scope><scope>7QP</scope><scope>7T5</scope><scope>7TK</scope><scope>7TM</scope><scope>7U7</scope><scope>7U9</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FD</scope><scope>8FE</scope><scope>8FG</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8G5</scope><scope>ABJCF</scope><scope>ABUWG</scope><scope>AEUYN</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BGLVJ</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>L6V</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M2O</scope><scope>M7N</scope><scope>M7P</scope><scope>M7S</scope><scope>MBDVC</scope><scope>P64</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PTHSS</scope><scope>Q9U</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope><scope>DOA</scope></search><sort><creationdate>20121011</creationdate><title>HLA-DQA1 and HLA-DQB1 in Celiac disease predisposition: practical implications of the HLA molecular typing</title><author>Megiorni, Francesca ; Pizzuti, Antonio</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b712t-98aa6f48b13804eaadd34f90e962d970c1fd97cb67325a5ddd38cd59613ff2ce3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Autoimmune diseases</topic><topic>Autoimmune Diseases - complications</topic><topic>Autoimmune Diseases - genetics</topic><topic>Celiac disease</topic><topic>Celiac Disease - complications</topic><topic>Celiac Disease - epidemiology</topic><topic>Celiac Disease - genetics</topic><topic>Cell adhesion & migration</topic><topic>Chromosomes</topic><topic>Development and progression</topic><topic>Diet</topic><topic>Disease</topic><topic>Disease risk</topic><topic>Europe</topic><topic>Family</topic><topic>Fatty acids</topic><topic>Female</topic><topic>Genetic counseling</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetic screening</topic><topic>Genetic Testing</topic><topic>Genetics</topic><topic>Genomes</topic><topic>Gluten</topic><topic>Haplotypes</topic><topic>Health risk assessment</topic><topic>Histocompatibility antigens</topic><topic>HLA histocompatibility antigens</topic><topic>HLA typing</topic><topic>HLA-DQ alpha-Chains - genetics</topic><topic>HLA-DQ beta-Chains - genetics</topic><topic>HLA-DQA1</topic><topic>HLA-DQB1</topic><topic>Humans</topic><topic>Male</topic><topic>Medical research</topic><topic>Medicine, Experimental</topic><topic>Multiple sclerosis</topic><topic>Proteins</topic><topic>Review</topic><topic>Risk Factors</topic><topic>United States</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Megiorni, Francesca</creatorcontrib><creatorcontrib>Pizzuti, Antonio</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Biotechnology Research Abstracts</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Immunology Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Toxicology Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Health Medical collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Technology Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Research Library (Alumni Edition)</collection><collection>Materials Science & Engineering Collection</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest One Sustainability</collection><collection>ProQuest Central</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>AUTh Library subscriptions: ProQuest Central</collection><collection>Technology Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>SciTech Premium Collection (Proquest) (PQ_SDU_P3)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Engineering Collection</collection><collection>Biological Sciences</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>PML(ProQuest Medical Library)</collection><collection>ProQuest Research Library</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Biological Science Database</collection><collection>Engineering Database</collection><collection>Research Library (Corporate)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Publicly Available Content Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Engineering Collection</collection><collection>ProQuest Central Basic</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><collection>Directory of Open Access Journals</collection><jtitle>Journal of biomedical science</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Megiorni, Francesca</au><au>Pizzuti, Antonio</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>HLA-DQA1 and HLA-DQB1 in Celiac disease predisposition: practical implications of the HLA molecular typing</atitle><jtitle>Journal of biomedical science</jtitle><addtitle>J Biomed Sci</addtitle><date>2012-10-11</date><risdate>2012</risdate><volume>19</volume><issue>1</issue><spage>88</spage><epage>88</epage><pages>88-88</pages><issn>1423-0127</issn><issn>1021-7770</issn><eissn>1423-0127</eissn><abstract>Celiac disease (CD) is a multifactorial disorder with an estimated prevalence in Europe and USA of 1:100 and a female:male ratio of approximately 2:1. The disorder has a multifactorial etiology in which the triggering environmental factor, the gluten, and the main genetic factors, Human Leukocyte Antigen (HLA)-DQA1 and HLA-DQB1 loci, are well known. About 90-95% of CD patients carry DQ2.5 heterodimers, encoded by DQA1*05 and DQB1*02 alleles both in cis or in trans configuration, and DQ8 molecules, encoded by DQB1*03:02 generally in combination with DQA1*03 variant. Less frequently, CD occurs in individuals positive for the DQ2.x heterodimers (DQA1≠*05 and DQB1*02) and very rarely in patients negative for these DQ predisposing markers. HLA molecular typing for Celiac disease is, therefore, a genetic test with a negative predictive value. Nevertheless, it is an important tool able to discriminate individuals genetically susceptible to CD, especially in at-risk groups such as first-degree relatives (parents, siblings and offspring) of patients and in presence of autoimmune conditions (type 1 diabetes, thyroiditis, multiple sclerosis) or specific genetic disorders (Down, Turner or Williams syndromes).</abstract><cop>England</cop><pub>BioMed Central Ltd</pub><pmid>23050549</pmid><doi>10.1186/1423-0127-19-88</doi><tpages>1</tpages><oa>free_for_read</oa></addata></record> |
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subjects | Autoimmune diseases Autoimmune Diseases - complications Autoimmune Diseases - genetics Celiac disease Celiac Disease - complications Celiac Disease - epidemiology Celiac Disease - genetics Cell adhesion & migration Chromosomes Development and progression Diet Disease Disease risk Europe Family Fatty acids Female Genetic counseling Genetic Predisposition to Disease Genetic screening Genetic Testing Genetics Genomes Gluten Haplotypes Health risk assessment Histocompatibility antigens HLA histocompatibility antigens HLA typing HLA-DQ alpha-Chains - genetics HLA-DQ beta-Chains - genetics HLA-DQA1 HLA-DQB1 Humans Male Medical research Medicine, Experimental Multiple sclerosis Proteins Review Risk Factors United States |
title | HLA-DQA1 and HLA-DQB1 in Celiac disease predisposition: practical implications of the HLA molecular typing |
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