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  • Romanos, JihaneDepartment of Genetics, University of of Groningen, University of Medical Centre Groningen, PO Box 30001, Groningen 9700 RB, Netherlands; School of Medicine, Lebanese American University, Beirut, Lebanon,Immunogenetics Research Laboratory, Hospital de Cruces, Bizkaia, Spain (author)

Improving coeliac disease risk prediction by testing non-HLA variants additional to HLA variants

  • Article/chapterEnglish2014

Publisher, publication year, extent ...

  • 2013-05-23
  • BMJ,2014
  • printrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:umu-71405
  • https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-71405URI
  • https://doi.org/10.1136/gutjnl-2012-304110DOI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-117092URI
  • https://lup.lub.lu.se/record/e3e8ee8d-cd52-4fee-9dc4-3dd977c78408URI

Supplementary language notes

  • Language:English
  • Summary in:English

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  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • Collaborators:PreventCD GroupHär ingår Lotta Högberg och Lars Stenhammar från Barn-och ungdomskliniken, VrinneviFunding Agencies|5R1DK084568-02, NIH, National Institutes of Health
  • BACKGROUND: The majority of coeliac disease (CD) patients are not being properly diagnosed and therefore remain untreated, leading to a greater risk of developing CD-associated complications. The major genetic risk heterodimer, HLA-DQ2 and DQ8, is already used clinically to help exclude disease. However, approximately 40% of the population carry these alleles and the majority never develop CD. OBJECTIVE: We explored whether CD risk prediction can be improved by adding non-HLA-susceptible variants to common HLA testing. DESIGN: We developed an average weighted genetic risk score with 10, 26 and 57 single nucleotide polymorphisms (SNP) in 2675 cases and 2815 controls and assessed the improvement in risk prediction provided by the non-HLA SNP. Moreover, we assessed the transferability of the genetic risk model with 26 non-HLA variants to a nested case-control population (n=1709) and a prospective cohort (n=1245) and then tested how well this model predicted CD outcome for 985 independent individuals. RESULTS: Adding 57 non-HLA variants to HLA testing showed a statistically significant improvement compared to scores from models based on HLA only, HLA plus 10 SNP and HLA plus 26 SNP. With 57 non-HLA variants, the area under the receiver operator characteristic curve reached 0.854 compared to 0.823 for HLA only, and 11.1% of individuals were reclassified to a more accurate risk group. We show that the risk model with HLA plus 26 SNP is useful in independent populations. CONCLUSIONS: Predicting risk with 57 additional non-HLA variants improved the identification of potential CD patients. This demonstrates a possible role for combined HLA and non-HLA genetic testing in diagnostic work for CD.

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Rosén, AnnaUmeå University,Umeå universitet,Epidemiologi och global hälsa,Institutionen för medicinsk biovetenskap,Department of Public Health and Clinical Medicine, Epidemiology and Global Health, Umeå University, Umeå, Sweden; Department of Medical Biosciences, Medical and Clinical Genetics, Umeå University, Umeå, Sweden(Swepub:umu)anaron95 (author)
  • Kumar, VinodDepartment of Genetics, University of of Groningen, University of Medical Centre Groningen, Netherlands (author)
  • Trynka, GosiaDepartment of Genetics, University of of Groningen, University of Medical Centre Groningen, PO Box 30001, Groningen 9700 RB, Netherlands; Division of Genetics and Division of Rheumatology, Harvard Medical School, Brigham and Womens Hospital, Boston, MA, United States (author)
  • Franke, LudeDepartment of Genetics, University of of Groningen, University of Medical Centre Groningen, Netherlands (author)
  • Szperl, AgataDepartment of Genetics, University of of Groningen, University of Medical Centre Groningen, Netherlands (author)
  • Gutierrez-Achury, JavierDepartment of Genetics, University of of Groningen, University of Medical Centre Groningen, Netherlands (author)
  • van Diemen, Cleo CDepartment of Genetics, University of of Groningen, University of Medical Centre Groningen, Netherlands (author)
  • Kanninga, RoanDepartment of Genetics, University of of Groningen, University of Medical Centre Groningen, Netherlands (author)
  • Jankipersadsing, Soesma AUniversity Medical Center Groningen (author)
  • Steck, AndreaBarbara Davis Centre for Childhood Diabetes, University of of Colorado Denver, Aurora, CO, United States (author)
  • Eisenbarth, GeorgesBarbara Davis Centre for Childhood Diabetes, University of of Colorado Denver, Aurora, CO, United States (author)
  • van Heel, David AInstitute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, London, United Kingdom,Queen Mary University (author)
  • Cukrowska, BozenaDepartment of Pathology, Childrens Memorial Health Institute, Warsaw, Poland (author)
  • Bruno, ValentinaEuropean Laboratory for Food-Induced Disease, University of of Naples Federico II, Naples, Italy (author)
  • Mazzilli, Maria CristinaDepartment of Molecular Medicine, Sapienza University of of Rome, Rome, Italy (author)
  • Núñez, ConcepcionClinical Immunology Department, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria San Carlos IdISSC, Madrid, Spain (author)
  • Bilbao, Jose RamonHospital de Cruces (author)
  • Mearin, M LuisaDepartment of Paediatrics, Leiden University of Medical Centre, Leiden, Netherlands (author)
  • Barisani, DonatellaDepartment of Experimental Medicine, Faculty of Medicine, University of of Milano- Bicocca, Monza, Italy,European Institute of Oncology (author)
  • Rewers, MarianBarbara Davis Centre for Childhood Diabetes, University of of Colorado Denver, Aurora, CO, United States (author)
  • Norris, Jill MEpidemiology Department, Colorado School of Public Health, Aurora, United States (author)
  • Ivarsson, AnneliLund University,Lunds universitet,Umeå University,Umeå universitet,Epidemiologi och global hälsa,Department of Public Health and Clinical Medicine, Epidemiology and Global Health, Umeå University, Umeå, Sweden,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Pediatrisk autoimmunitet,Forskargrupper vid Lunds universitet,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,Pediatric Autoimmunity,Lund University Research Groups(Swepub:lu)med-acs (author)
  • Boezen, H MariekeDepartment of Epidemiology, University of of Groningen, University of Medical Centre Groningen, Groningen, Netherlands (author)
  • Liu, EdwinBarbara Davis Centre for Childhood Diabetes, University of of Colorado Denver, Aurora, CO, United States (author)
  • Wijmenga, CiscaDepartment of Genetics, University of of Groningen, University of Medical Centre Groningen, PO Box 30001, Groningen 9700 RB, Netherlands (author)
  • Department of Genetics, University of of Groningen, University of Medical Centre Groningen, PO Box 30001, Groningen 9700 RB, Netherlands; School of Medicine, Lebanese American University, Beirut, LebanonImmunogenetics Research Laboratory, Hospital de Cruces, Bizkaia, Spain (creator_code:org_t)
  • PreventCD Group

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  • In:Gut: BMJ63:3, s. 415-4220017-57491468-3288

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