HLA genotyping as first-line screening tool for coeliac disease in children with juvenile idiopathic arthritis

ObjectivesCoeliac disease (CD) and juvenile idiopathic arthritis (JIA) often coexist. This association warrants assessment for CD in patients with JIA. We evaluated the clinical relevance and cost-effectiveness of human leucocyte antigen (HLA) genotyping in first-line screening for development of CD...

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Published in:Archives of disease in childhood 2017-07, Vol.102 (7), p.607-611
Main Authors: Skrabl-Baumgartner, Andrea, Christine Hauer, Almuthe, Erwa, Wolfgang, Jahnel, Jörg
Format: Article
Language:English
Subjects:
Adolescent
Age of Onset
Antibodies
Antigens
Arthritis
Arthritis, Juvenile - economics
Arthritis, Juvenile - genetics
Arthritis, Juvenile - immunology
Autoantibodies - metabolism
Biopsy
Celiac disease
Celiac Disease - diagnosis
Celiac Disease - economics
Celiac Disease - genetics
Celiac Disease - immunology
Child
Child, Preschool
Children
Children & youth
Complications and side effects
Cost-Benefit Analysis
Early Diagnosis
Environmental Influences
Female
Gastroenterology
Genotype
Genotype & phenotype
Genotypes
Genotyping
Genotyping Techniques - economics
Genotyping Techniques - methods
Guidelines
Health aspects
Histocompatibility antigen HLA
HLA-DQ Antigens - genetics
Humans
Infant
Intestine
Juvenile arthritis
Male
Medical screening
Nutrition
Patients
Prospective Studies
Rheumatoid arthritis
Risk factors
Screening Tests
Statistical Analysis
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cited_by cdi_FETCH-LOGICAL-b458t-747d6e3e6120be635377cfa9c7ea69ffefee44cd839176b7975bdcd13d5a665d3
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container_issue 7
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creator Skrabl-Baumgartner, Andrea
Christine Hauer, Almuthe
Erwa, Wolfgang
Jahnel, Jörg
description ObjectivesCoeliac disease (CD) and juvenile idiopathic arthritis (JIA) often coexist. This association warrants assessment for CD in patients with JIA. We evaluated the clinical relevance and cost-effectiveness of human leucocyte antigen (HLA) genotyping in first-line screening for development of CD in children with JIA.Patients and interventions95 patients with JIA were screened for CD using CD-specific antibodies. In case of positivity, a small intestinal biopsy was performed to confirm diagnosis. In addition, HLA genotyping was performed. 110 age-matched and sex-matched Caucasian children from the same geographical area served as controls.ResultsCD was diagnosed in 4 of 95 patients with JIA (4.2%), a rate significantly higher compared with controls (p
doi_str_mv 10.1136/archdischild-2016-311544
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This association warrants assessment for CD in patients with JIA. We evaluated the clinical relevance and cost-effectiveness of human leucocyte antigen (HLA) genotyping in first-line screening for development of CD in children with JIA.Patients and interventions95 patients with JIA were screened for CD using CD-specific antibodies. In case of positivity, a small intestinal biopsy was performed to confirm diagnosis. In addition, HLA genotyping was performed. 110 age-matched and sex-matched Caucasian children from the same geographical area served as controls.ResultsCD was diagnosed in 4 of 95 patients with JIA (4.2%), a rate significantly higher compared with controls (p&lt;0.02) and 14 times higher than in the general population. Twenty-six patients (27.4%) had one of the variants of the risk genotypes. All four patients diagnosed with CD had a HLA-DQ2.5 genotype: one was homozygote, the remainder heterozygote. Twenty-two patients are, judging by their HLA genotypes, at risk of developing CD and require repeated serological screening. None of the 69 patients without HLA-DQ2/DQ8 genotypes had CD-specific antibodies. Screening with HLA genotyping becomes cheaper than screening without after the second determination.ConclusionsIn our cohort of patients with JIA, lack of HLA-DQ2/DQ8 genotypes identified a majority not at risk of CD in whom repeated serological testing is unnecessary. Genotyping is nowadays the most efficient and cost-effective way to screen for CD risk in JIA.</description><identifier>ISSN: 0003-9888</identifier><identifier>EISSN: 1468-2044</identifier><identifier>DOI: 10.1136/archdischild-2016-311544</identifier><identifier>PMID: 28232458</identifier><language>eng</language><publisher>England: BMJ Publishing Group Ltd</publisher><subject>Adolescent ; Age of Onset ; Antibodies ; Antigens ; Arthritis ; Arthritis, Juvenile - economics ; Arthritis, Juvenile - genetics ; Arthritis, Juvenile - immunology ; Autoantibodies - metabolism ; Biopsy ; Celiac disease ; Celiac Disease - diagnosis ; Celiac Disease - economics ; Celiac Disease - genetics ; Celiac Disease - immunology ; Child ; Child, Preschool ; Children ; Children &amp; youth ; Complications and side effects ; Cost-Benefit Analysis ; Early Diagnosis ; Environmental Influences ; Female ; Gastroenterology ; Genotype ; Genotype &amp; phenotype ; Genotypes ; Genotyping ; Genotyping Techniques - economics ; Genotyping Techniques - methods ; Guidelines ; Health aspects ; Histocompatibility antigen HLA ; HLA-DQ Antigens - genetics ; Humans ; Infant ; Intestine ; Juvenile arthritis ; Male ; Medical screening ; Nutrition ; Patients ; Prospective Studies ; Rheumatoid arthritis ; Risk factors ; Screening Tests ; Statistical Analysis</subject><ispartof>Archives of disease in childhood, 2017-07, Vol.102 (7), p.607-611</ispartof><rights>Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing</rights><rights>Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.</rights><rights>Copyright: 2017 Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b458t-747d6e3e6120be635377cfa9c7ea69ffefee44cd839176b7975bdcd13d5a665d3</citedby><cites>FETCH-LOGICAL-b458t-747d6e3e6120be635377cfa9c7ea69ffefee44cd839176b7975bdcd13d5a665d3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.proquest.com/docview/1912450940/fulltextPDF?pq-origsite=primo$$EPDF$$P50$$Gproquest$$H</linktopdf><linktohtml>$$Uhttps://www.proquest.com/docview/1912450940?pq-origsite=primo$$EHTML$$P50$$Gproquest$$H</linktohtml><link.rule.ids>314,780,784,21376,21392,27922,27923,33609,33610,33875,33876,43731,43878,73991,74167</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/28232458$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Skrabl-Baumgartner, Andrea</creatorcontrib><creatorcontrib>Christine Hauer, Almuthe</creatorcontrib><creatorcontrib>Erwa, Wolfgang</creatorcontrib><creatorcontrib>Jahnel, Jörg</creatorcontrib><title>HLA genotyping as first-line screening tool for coeliac disease in children with juvenile idiopathic arthritis</title><title>Archives of disease in childhood</title><addtitle>Arch Dis Child</addtitle><description>ObjectivesCoeliac disease (CD) and juvenile idiopathic arthritis (JIA) often coexist. This association warrants assessment for CD in patients with JIA. We evaluated the clinical relevance and cost-effectiveness of human leucocyte antigen (HLA) genotyping in first-line screening for development of CD in children with JIA.Patients and interventions95 patients with JIA were screened for CD using CD-specific antibodies. In case of positivity, a small intestinal biopsy was performed to confirm diagnosis. In addition, HLA genotyping was performed. 110 age-matched and sex-matched Caucasian children from the same geographical area served as controls.ResultsCD was diagnosed in 4 of 95 patients with JIA (4.2%), a rate significantly higher compared with controls (p&lt;0.02) and 14 times higher than in the general population. Twenty-six patients (27.4%) had one of the variants of the risk genotypes. All four patients diagnosed with CD had a HLA-DQ2.5 genotype: one was homozygote, the remainder heterozygote. Twenty-two patients are, judging by their HLA genotypes, at risk of developing CD and require repeated serological screening. None of the 69 patients without HLA-DQ2/DQ8 genotypes had CD-specific antibodies. Screening with HLA genotyping becomes cheaper than screening without after the second determination.ConclusionsIn our cohort of patients with JIA, lack of HLA-DQ2/DQ8 genotypes identified a majority not at risk of CD in whom repeated serological testing is unnecessary. Genotyping is nowadays the most efficient and cost-effective way to screen for CD risk in JIA.</description><subject>Adolescent</subject><subject>Age of Onset</subject><subject>Antibodies</subject><subject>Antigens</subject><subject>Arthritis</subject><subject>Arthritis, Juvenile - economics</subject><subject>Arthritis, Juvenile - genetics</subject><subject>Arthritis, Juvenile - immunology</subject><subject>Autoantibodies - metabolism</subject><subject>Biopsy</subject><subject>Celiac disease</subject><subject>Celiac Disease - diagnosis</subject><subject>Celiac Disease - economics</subject><subject>Celiac Disease - genetics</subject><subject>Celiac Disease - immunology</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Children</subject><subject>Children &amp; youth</subject><subject>Complications and side effects</subject><subject>Cost-Benefit Analysis</subject><subject>Early Diagnosis</subject><subject>Environmental Influences</subject><subject>Female</subject><subject>Gastroenterology</subject><subject>Genotype</subject><subject>Genotype &amp; phenotype</subject><subject>Genotypes</subject><subject>Genotyping</subject><subject>Genotyping Techniques - economics</subject><subject>Genotyping Techniques - methods</subject><subject>Guidelines</subject><subject>Health aspects</subject><subject>Histocompatibility antigen HLA</subject><subject>HLA-DQ Antigens - genetics</subject><subject>Humans</subject><subject>Infant</subject><subject>Intestine</subject><subject>Juvenile arthritis</subject><subject>Male</subject><subject>Medical screening</subject><subject>Nutrition</subject><subject>Patients</subject><subject>Prospective Studies</subject><subject>Rheumatoid arthritis</subject><subject>Risk factors</subject><subject>Screening Tests</subject><subject>Statistical Analysis</subject><issn>0003-9888</issn><issn>1468-2044</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>ALSLI</sourceid><sourceid>CJNVE</sourceid><sourceid>M0P</sourceid><recordid>eNqNkU-P0zAQxSMEYrsLXwFZ4sIlix3_zbGqgEWqtBc4W44zaVy5drEdYL89LlkQ4gInS-Pfm3kzr2kQwbeEUPHWJDuPLtvZ-bHtMBEtJYQz9qTZECZULTH2tNlgjGnbK6WumuucjxiTTin6vLnqVEc7xtWmCXf7LTpAiOXh7MIBmYwml3JpvQuAsk0A4VIvMXo0xYRsBO-MRXU8mAzIBfTTRoKAvrkyo-PytUp8_RldPJsyO4tMKnNyxeUXzbPJ-AwvH9-b5vP7d592d-3-_sPH3XbfDtVVaSWTowAKgnR4AEE5ldJOprcSjOinCSYAxuyoaE-kGGQv-TDakdCRGyH4SG-aN2vfc4pfFshFn-q5wHsTIC5Zk54IKhXh8t-okh2XUkla0dd_oce4pFAXuTSsB8U9w5VqV-pgPGgXbAwFvhcbvYcD6Lrn7l5vORY96TnmlVcrb1PMOcGkz8mdTHrQBOtL3PrPuPUlbr3GXaWvHg0twwnG38Jf-VaArsBwOv5_2x_657p3</recordid><startdate>20170701</startdate><enddate>20170701</enddate><creator>Skrabl-Baumgartner, Andrea</creator><creator>Christine Hauer, Almuthe</creator><creator>Erwa, Wolfgang</creator><creator>Jahnel, Jörg</creator><general>BMJ Publishing Group Ltd</general><general>BMJ Publishing Group LTD</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>0-V</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88B</scope><scope>88E</scope><scope>88I</scope><scope>8A4</scope><scope>8AF</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AEUYN</scope><scope>AFKRA</scope><scope>ALSLI</scope><scope>AN0</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>BTHHO</scope><scope>CCPQU</scope><scope>CJNVE</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9-</scope><scope>K9.</scope><scope>LK8</scope><scope>M0P</scope><scope>M0R</scope><scope>M0S</scope><scope>M1P</scope><scope>M2P</scope><scope>M7P</scope><scope>PQEDU</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>Q9U</scope><scope>7X8</scope><scope>7T5</scope><scope>H94</scope></search><sort><creationdate>20170701</creationdate><title>HLA genotyping as first-line screening tool for coeliac disease in children with juvenile idiopathic arthritis</title><author>Skrabl-Baumgartner, Andrea ; Christine Hauer, Almuthe ; Erwa, Wolfgang ; Jahnel, Jörg</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b458t-747d6e3e6120be635377cfa9c7ea69ffefee44cd839176b7975bdcd13d5a665d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Adolescent</topic><topic>Age of Onset</topic><topic>Antibodies</topic><topic>Antigens</topic><topic>Arthritis</topic><topic>Arthritis, Juvenile - economics</topic><topic>Arthritis, Juvenile - genetics</topic><topic>Arthritis, Juvenile - immunology</topic><topic>Autoantibodies - metabolism</topic><topic>Biopsy</topic><topic>Celiac disease</topic><topic>Celiac Disease - diagnosis</topic><topic>Celiac Disease - economics</topic><topic>Celiac Disease - genetics</topic><topic>Celiac Disease - immunology</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Children</topic><topic>Children &amp; youth</topic><topic>Complications and side effects</topic><topic>Cost-Benefit Analysis</topic><topic>Early Diagnosis</topic><topic>Environmental Influences</topic><topic>Female</topic><topic>Gastroenterology</topic><topic>Genotype</topic><topic>Genotype &amp; phenotype</topic><topic>Genotypes</topic><topic>Genotyping</topic><topic>Genotyping Techniques - economics</topic><topic>Genotyping Techniques - methods</topic><topic>Guidelines</topic><topic>Health aspects</topic><topic>Histocompatibility antigen HLA</topic><topic>HLA-DQ Antigens - genetics</topic><topic>Humans</topic><topic>Infant</topic><topic>Intestine</topic><topic>Juvenile arthritis</topic><topic>Male</topic><topic>Medical screening</topic><topic>Nutrition</topic><topic>Patients</topic><topic>Prospective Studies</topic><topic>Rheumatoid arthritis</topic><topic>Risk factors</topic><topic>Screening Tests</topic><topic>Statistical Analysis</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Skrabl-Baumgartner, Andrea</creatorcontrib><creatorcontrib>Christine Hauer, Almuthe</creatorcontrib><creatorcontrib>Erwa, Wolfgang</creatorcontrib><creatorcontrib>Jahnel, Jörg</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 Social Sciences Premium Collection</collection><collection>ProQuest Central (Corporate)</collection><collection>Health &amp; 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This association warrants assessment for CD in patients with JIA. We evaluated the clinical relevance and cost-effectiveness of human leucocyte antigen (HLA) genotyping in first-line screening for development of CD in children with JIA.Patients and interventions95 patients with JIA were screened for CD using CD-specific antibodies. In case of positivity, a small intestinal biopsy was performed to confirm diagnosis. In addition, HLA genotyping was performed. 110 age-matched and sex-matched Caucasian children from the same geographical area served as controls.ResultsCD was diagnosed in 4 of 95 patients with JIA (4.2%), a rate significantly higher compared with controls (p&lt;0.02) and 14 times higher than in the general population. Twenty-six patients (27.4%) had one of the variants of the risk genotypes. All four patients diagnosed with CD had a HLA-DQ2.5 genotype: one was homozygote, the remainder heterozygote. Twenty-two patients are, judging by their HLA genotypes, at risk of developing CD and require repeated serological screening. None of the 69 patients without HLA-DQ2/DQ8 genotypes had CD-specific antibodies. Screening with HLA genotyping becomes cheaper than screening without after the second determination.ConclusionsIn our cohort of patients with JIA, lack of HLA-DQ2/DQ8 genotypes identified a majority not at risk of CD in whom repeated serological testing is unnecessary. Genotyping is nowadays the most efficient and cost-effective way to screen for CD risk in JIA.</abstract><cop>England</cop><pub>BMJ Publishing Group Ltd</pub><pmid>28232458</pmid><doi>10.1136/archdischild-2016-311544</doi><tpages>5</tpages></addata></record>
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subjects Adolescent
Age of Onset
Antibodies
Antigens
Arthritis
Arthritis, Juvenile - economics
Arthritis, Juvenile - genetics
Arthritis, Juvenile - immunology
Autoantibodies - metabolism
Biopsy
Celiac disease
Celiac Disease - diagnosis
Celiac Disease - economics
Celiac Disease - genetics
Celiac Disease - immunology
Child
Child, Preschool
Children
Children & youth
Complications and side effects
Cost-Benefit Analysis
Early Diagnosis
Environmental Influences
Female
Gastroenterology
Genotype
Genotype & phenotype
Genotypes
Genotyping
Genotyping Techniques - economics
Genotyping Techniques - methods
Guidelines
Health aspects
Histocompatibility antigen HLA
HLA-DQ Antigens - genetics
Humans
Infant
Intestine
Juvenile arthritis
Male
Medical screening
Nutrition
Patients
Prospective Studies
Rheumatoid arthritis
Risk factors
Screening Tests
Statistical Analysis
title HLA genotyping as first-line screening tool for coeliac disease in children with juvenile idiopathic arthritis
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