Genetic sharing and heritability of paediatric age of onset autoimmune diseases

Yun R. Li, Sihai D. Zhao, Jin Li, Jonathan P. Bradfield, Maede Mohebnasab, Laura Steel, Julie Kobie, Debra J. Abrams, Frank D. Mentch, Joseph T. Glessner, Yiran Guo, Zhi Wei, John J. Connolly, Christopher J. Cardinale, Marina Bakay, Dong Li, S. Melkorka Maggadottir, Kelly A. Thomas, Haijun Qui, Rosetta M. Chiavacci, Cecilia E. Kim, Fengxiang Wang, James Snyder, Berit Flatø, Øystein Førre, Lee A. Denson, Susan D. Thompson, Mara L. Becker, Stephen L. Guthery, Anna Latiano, Elena Perez, Elena Resnick, Caterina Strisciuglio, Annamaria Staiano, Erasmo Miele, Mark S. Silverberg, Benedicte A. Lie, Marilynn Punaro, Richard K. Russell, David C. Wilson, Marla C. Dubinsky, Dimitri S. Monos, Vito Annese, Jane E. Munro, Carol Wise, Helen Chapel, Charlotte Cunningham-Rundles, Jordan S. Orange, Edward M. Behrens, Kathleen E. Sullivan, Subra Kugathasan, Anne M. Griffiths, Jack Satsangi, Struan F. A. Grant, Patrick M. A. Sleiman, Terri H. Finkel, Constantin Polychronakos, Robert N. Baldassano, Eline T. Luning Prak, Justine A. Ellis, Hongzhe Li, Brendan J. Keating and Hakon Hakonarson ()
Additional contact information
Yun R. Li: Center for Applied Genomics, Children’s Hospital of Philadelphia
Sihai D. Zhao: University of Illinois at Urbana-Champaign
Jin Li: Center for Applied Genomics, Children’s Hospital of Philadelphia
Jonathan P. Bradfield: Center for Applied Genomics, Children’s Hospital of Philadelphia
Maede Mohebnasab: Center for Applied Genomics, Children’s Hospital of Philadelphia
Laura Steel: Center for Applied Genomics, Children’s Hospital of Philadelphia
Julie Kobie: Perelman School of Medicine, University of Pennsylvania
Debra J. Abrams: Center for Applied Genomics, Children’s Hospital of Philadelphia
Frank D. Mentch: Center for Applied Genomics, Children’s Hospital of Philadelphia
Joseph T. Glessner: Center for Applied Genomics, Children’s Hospital of Philadelphia
Yiran Guo: Center for Applied Genomics, Children’s Hospital of Philadelphia
Zhi Wei: Center for Applied Genomics, Children’s Hospital of Philadelphia
John J. Connolly: Center for Applied Genomics, Children’s Hospital of Philadelphia
Christopher J. Cardinale: Center for Applied Genomics, Children’s Hospital of Philadelphia
Marina Bakay: Center for Applied Genomics, Children’s Hospital of Philadelphia
Dong Li: Center for Applied Genomics, Children’s Hospital of Philadelphia
S. Melkorka Maggadottir: Center for Applied Genomics, Children’s Hospital of Philadelphia
Kelly A. Thomas: Center for Applied Genomics, Children’s Hospital of Philadelphia
Haijun Qui: Center for Applied Genomics, Children’s Hospital of Philadelphia
Rosetta M. Chiavacci: Center for Applied Genomics, Children’s Hospital of Philadelphia
Cecilia E. Kim: Center for Applied Genomics, Children’s Hospital of Philadelphia
Fengxiang Wang: Center for Applied Genomics, Children’s Hospital of Philadelphia
James Snyder: Center for Applied Genomics, Children’s Hospital of Philadelphia
Berit Flatø: Oslo University Hospital
Øystein Førre: Oslo University Hospital
Lee A. Denson: Center for Inflammatory Bowel Disease, Cincinnati Children's Hospital Medical Center
Susan D. Thompson: Divison of Rheumatology, Cincinnati Children’s Hospital Medical Center
Mara L. Becker: Toxicology, and Therapeutic Innovation, Children’s Mercy-Kansas City
Stephen L. Guthery: University of Utah School of Medicine and Primary Children's Medical Center
Anna Latiano: RCCS ‘Casa Sollievo della Sofferenza’
Elena Perez: University of Miami Miller School of Medicine
Elena Resnick: Institute of Immunology, Icahn School of Medicine at Mount Sinai, Mount Sinai Hospital
Caterina Strisciuglio: Section of Pediatrics, University of Naples "Federico II"
Annamaria Staiano: Section of Pediatrics, University of Naples "Federico II"
Erasmo Miele: Section of Pediatrics, University of Naples "Federico II"
Mark S. Silverberg: IBD Centre, Mount Sinai Hospital, University of Toronto
Benedicte A. Lie: Oslo University Hospital
Marilynn Punaro: Texas Scottish Rite Hospital for Children
Richard K. Russell: Yorkhill Hospital for Sick Children
David C. Wilson: Paediatric Gastroenterology and Nutrition, Royal Hospital for Sick Children, Edinburgh and Child Life and Health, University of Edinburgh
Marla C. Dubinsky: Cedars Sinai Medical Center
Dimitri S. Monos: Children’s Hospital of Philadelphia
Vito Annese: Unit of Gastroenterology, Careggi University Hospital
Jane E. Munro: Paediatric Rheumatology Unit, Royal Children’s Hospital
Carol Wise: Sarah M. and Charles E. Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children
Helen Chapel: University of Oxford
Charlotte Cunningham-Rundles: Institute of Immunology, Icahn School of Medicine at Mount Sinai, Mount Sinai Hospital
Jordan S. Orange: Section of Immunology, Allergy, and Rheumatology, Texas Children’s Hospital
Edward M. Behrens: The Perelman School of Medicine, University of Pennsylvania
Kathleen E. Sullivan: Children’s Hospital of Philadelphia
Subra Kugathasan: Emory University School of Medicine and Children’s Health Care of Atlanta
Anne M. Griffiths: Hospital for Sick Children, University of Toronto
Jack Satsangi: Gastrointestinal Unit, School of Molecular and Clinical Medicine, University of Edinburgh, Western General Hospital
Struan F. A. Grant: Center for Applied Genomics, Children’s Hospital of Philadelphia
Patrick M. A. Sleiman: Center for Applied Genomics, Children’s Hospital of Philadelphia
Terri H. Finkel: Nemours Children’s Hospital
Constantin Polychronakos: McGill University
Robert N. Baldassano: The Perelman School of Medicine, University of Pennsylvania
Eline T. Luning Prak: Perelman School of Medicine University of Pennsylvania
Justine A. Ellis: Genes, Environment and Complex Disease, Murdoch Childrens Research Institute
Hongzhe Li: Perelman School of Medicine, University of Pennsylvania
Brendan J. Keating: Center for Applied Genomics, Children’s Hospital of Philadelphia
Hakon Hakonarson: Center for Applied Genomics, Children’s Hospital of Philadelphia

Nature Communications, 2015, vol. 6, issue 1, 1-10

Abstract: Abstract Autoimmune diseases (AIDs) are polygenic diseases affecting 7–10% of the population in the Western Hemisphere with few effective therapies. Here, we quantify the heritability of paediatric AIDs (pAIDs), including JIA, SLE, CEL, T1D, UC, CD, PS, SPA and CVID, attributable to common genomic variations (SNP-h2). SNP-h2 estimates are most significant for T1D (0.863±s.e. 0.07) and JIA (0.727±s.e. 0.037), more modest for UC (0.386±s.e. 0.04) and CD (0.454±0.025), largely consistent with population estimates and are generally greater than that previously reported by adult GWAS. On pairwise analysis, we observed that the diseases UC-CD (0.69±s.e. 0.07) and JIA-CVID (0.343±s.e. 0.13) are the most strongly correlated. Variations across the MHC strongly contribute to SNP-h2 in T1D and JIA, but does not significantly contribute to the pairwise rG. Together, our results partition contributions of shared versus disease-specific genomic variations to pAID heritability, identifying pAIDs with unexpected risk sharing, while recapitulating known associations between autoimmune diseases previously reported in adult cohorts.

Date: 2015
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DOI: 10.1038/ncomms9442

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