ArticleNature communications2015
Genetic sharing and heritability of paediatric age of onset autoimmune diseases.
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Article in Nature communications, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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32citing papers in PubMed
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Who cites it
32 citing papers in PubMed.
- Large-scale integrative analysis of juvenile idiopathic arthritis for new insight into its pathogenesis.Arthritis research & therapy · 2024Article
- Integrative analysis reveals novel insights into juvenile idiopathic arthritis pathogenesis and shared molecular pathways with associated traits.Frontiers in genetics · 2024Article
- Article
- Identification of the shared genetic architecture underlying seven autoimmune diseases with GWAS summary statistics.Frontiers in immunology · 2023Article
- Examining Health Outcomes in Juvenile Idiopathic Arthritis: A Genetic Epidemiology Study.ACR open rheumatology · 2022Article
- A survey of genome-wide association studies, polygenic scores and UK Biobank highlights resources for autoimmune disease genetics.Frontiers in immunology · 2022Review
- Multisystem Autoimmune Inflammatory Disease, Including Colitis, Due to Inborn Error of Immunity.Pediatrics · 2021Article
- Variable immunodeficiency score upfront analytical link (VISUAL), a proposal for combined prognostic score at diagnosis of common variable immunodeficiency.Scientific reports · 2021Article
- Prevalence of autoimmune diseases and other associated conditions in children and young adults with juvenile idiopathic arthritis.RMD open · 2021Article
- Immune-mediated diseases and risk of Crohn's disease or ulcerative colitis: a prospective cohort study.Alimentary pharmacology & therapeutics · 2021Article
- Detecting pathogenic variants in autoimmune diseases using high-throughput sequencing.Immunology and cell biology · 2021Review
- Targeted Proteomics Reveals Inflammatory Pathways that Classify Immune Dysregulation in Common Variable Immunodeficiency.Journal of clinical immunology · 2021Article
- Genomic risk scores for juvenile idiopathic arthritis and its subtypes.Annals of the rheumatic diseases · 2020Article
- Co-aggregation and heritability of organ-specific autoimmunity: a population-based twin study.European journal of endocrinology · 2020Article
- Recent advances in elucidating the genetics of common variable immunodeficiency.Genes & diseases · 2020Review
- Article
- Candidate gene analyses for acute pain and morphine analgesia after pediatric day surgery: African American versus European Caucasian ancestry and dose prediction limits.The pharmacogenomics journal · 2019Article
- Current Understanding and Recent Developments in Common Variable Immunodeficiency Associated Autoimmunity.Frontiers in immunology · 2019Review
- Identification of Target Genes at Juvenile Idiopathic Arthritis GWAS Loci in Human Neutrophils.Frontiers in genetics · 2019Article
- Phenotypic characterization of patients with rheumatologic manifestations of common variable immunodeficiency.Seminars in arthritis and rheumatism · 2018Article
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Authors and funding
63 authors.
Yun R LiCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.ORCID http://orcid.org/0000-0002-8077-4975
Sihai D ZhaoDepartment of Statistics, University of Illinois at Urbana-Champaign, Champaign, Illinois 61820, USA.
Jin LiCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Jonathan P BradfieldCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Maede MohebnasabCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Laura SteelCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Julie KobieDepartment of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
Debra J AbramsCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Frank D MentchCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Joseph T GlessnerCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Yiran GuoCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.ORCID http://orcid.org/0000-0002-6549-8589
Zhi WeiCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
John J ConnollyCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Christopher J CardinaleCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Marina BakayCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Dong LiCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
S Melkorka MaggadottirCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Kelly A ThomasCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.ORCID http://orcid.org/0000-0002-9719-2664
Haijun QuiCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Rosetta M ChiavacciCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Cecilia E KimCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Fengxiang WangCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
James SnyderCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Berit FlatøDepartment of Rheumatology, Oslo University Hospital, Rikshospitalet, Oslo 0372, Norway.
Øystein FørreDepartment of Rheumatology, Oslo University Hospital, Rikshospitalet, Oslo 0372, Norway.
Lee A DensonCenter for Inflammatory Bowel Disease, Division of Gastroenterology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA.
Susan D ThompsonDivison of Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA.
Mara L BeckerDivision of Rheumatology and Division of Clinical Pharmacology, Toxicology, and Therapeutic Innovation, Children's Mercy-Kansas City, Kansas City, Missouri 64108, USA.
Stephen L GutheryDepartment of Pediatrics, University of Utah School of Medicine and Primary Children's Medical Center, Salt Lake City, Utah 84113, USA.
Anna LatianoRCCS 'Casa Sollievo della Sofferenza', Division of Gastroenterology, San Giovanni Rotondo 71013, Italy.
Elena PerezDivision of Pediatric Allergy and Immunology, University of Miami Miller School of Medicine, Miami, Florida 33136, USA.
Elena ResnickInstitute of Immunology, Department of Medicine, Icahn School of Medicine at Mount Sinai, Mount Sinai Hospital, New York, New York 10029, USA.
Caterina StrisciuglioDepartment of Translational Medical Science, Section of Pediatrics, University of Naples "Federico II", Naples 80138, Italy.
Annamaria StaianoDepartment of Translational Medical Science, Section of Pediatrics, University of Naples "Federico II", Naples 80138, Italy.
Erasmo MieleDepartment of Translational Medical Science, Section of Pediatrics, University of Naples "Federico II", Naples 80138, Italy.
Mark S SilverbergIBD Centre, Mount Sinai Hospital, University of Toronto, 441-600 University Avenue, Toronto, Ontario, Canada M5G 1X5.
Benedicte A LieDepartment of Immunology, Oslo University Hospital, Rikshospitalet, 0027 Oslo 0372, Norway.
Marilynn PunaroTexas Scottish Rite Hospital for Children, Dallas, Texas 750219, USA.
Richard K RussellYorkhill Hospital for Sick Children, Glasgow G38SJ, Scotland.
David C WilsonPaediatric Gastroenterology and Nutrition, Royal Hospital for Sick Children, Edinburgh and Child Life and Health, University of Edinburgh, Edinburgh EH9 1UW, UK.
Marla C DubinskyDepartments of Pediatrics and Common Disease Genetics, Cedars Sinai Medical Center, Los Angeles, California 90048, USA.
Dimitri S MonosDepartment of Pathology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Vito AnneseUnit of Gastroenterology, Department of Medical and Surgical Specialties, Careggi University Hospital, Viale Pieraccini 18, Florence 50139, Italy.
Jane E MunroPaediatric Rheumatology Unit, Royal Children's Hospital, Parkville, Victoria 3052, Australia.
Carol WiseSarah M. and Charles E. Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, Texas 750219, USA.
Helen ChapelDepartment of Clinical Immunology, Nuffield Department of Medicine, University of Oxford, OX1 1NF, UK.
Charlotte Cunningham-RundlesInstitute of Immunology, Department of Medicine, Icahn School of Medicine at Mount Sinai, Mount Sinai Hospital, New York, New York 10029, USA.
Jordan S OrangeSection of Immunology, Allergy, and Rheumatology, Department of Pediatric Medicine, Texas Children's Hospital, Houston, Texas 77030, USA.
Edward M BehrensDepartment of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
Kathleen E SullivanDivision of Allergy and Immunology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Subra KugathasanDepartment of Pediatrics, Emory University School of Medicine and Children's Health Care of Atlanta, Atlanta, Georgia 30329, USA.
Anne M GriffithsHospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8.
Jack SatsangiGastrointestinal Unit, Division of Medical Sciences, School of Molecular and Clinical Medicine, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK.
Struan F A GrantCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Patrick M A SleimanCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Terri H FinkelDepartment of Pediatrics, Nemours Children's Hospital, Orlando, Florida 32827, USA.
Constantin PolychronakosDepartments of Pediatrics and Human Genetics, McGill University, Montreal, Quebec, Canada H3H 1P3.
Robert N BaldassanoDepartment of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
Eline T Luning PrakDepartment of Pathology and Lab Medicine, Perelman School of Medicine University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
Justine A EllisGenes, Environment and Complex Disease, Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia.
Hongzhe LiDepartment of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
Brendan J KeatingCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Hakon HakonarsonCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Funding
LCenter for Clinical and Translational Science and TrainingUL1TR001425 · NCATS · UNIVERSITY OF CINCINNATI · PI HEUBI, JAMES E., KISSELA, BRETT M · 2015 to 2024
$37.5MROLE OF ANGPTL4, AN ANGIOGENIC MEDIATOR, IN ARTHRITISP30AR047363 · NIAMS · CINCINNATI CHILDRENS HOSP MED CTR · PI FLICK, MATTHEW J. · 2001 to 2015
$9.2MTissue Repository CoreP30AR070549 · NIAMS · CINCINNATI CHILDRENS HOSP MED CTR · PI Leah Claire Kottyan · 2016 to 2026
$7.7MTARGETING PRIMARY IMMUNODEFICIENCY AMONG MINORITIESR18AI048693 · NIAID · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI CUNNINGHAM-RUNDLES, CHARLOTTE · 2000 to 2016
$6.2MFine Mapping and Functional Evaluation of Selected Type 1 Diabetes LociDP3DK085708 · NIDDK · CHILDREN'S HOSP OF PHILADELPHIA · PI HAKONARSON, HAKON, POLYCHRONAKOS, CONSTANTIN · 2009 to 2009
$4.8MIntegrative Analysis of a GWAS Repository with EMRs from over 40,000 ChildrenU01HG006830 · NHGRI · CHILDREN'S HOSP OF PHILADELPHIA · PI HAKONARSON, HAKON · 2012 to 2014
$3.7MGenetics of Juvenile Idiopathic ArthritisRC1AR058606 · NIAMS · CHILDREN'S HOSP OF PHILADELPHIA · PI FINKEL, TERRI H, HAKONARSON, HAKON · 2009 to 2010
$999kIntegrative Analysis of Genomic Risk Factors in Juvenile Idiopathic ArthritisF30AR066486 · NIAMS · UNIVERSITY OF PENNSYLVANIA · PI LI, YUN ROSE · 2014 to 2015
$93kChief Scientist Office ETM/137Chief Scientist Office ETM/75Medical Research Council G0600329Medical Research Council G0800675Medical Research Council G0800759MRF_ C0482NHGRI NIH HHS U01 HG006830NHGRI NIH HHS U01HG006830NIAMS NIH HHS 1F30AR066486NIAMS NIH HHS F30 AR066486NIAMS NIH HHS RC1 AR058606NIAMS NIH HHS RC1AR058606NIDDK NIH HHS DP3 DK085708NIDDK NIH HHS DP3DK085708
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-h(2)). SNP-h(2) 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-h(2) 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.
Indexed as
AdolescentAge of OnsetAutoimmune DiseasesCase-Control StudiesChildChild, PreschoolFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMalePolymorphism, Single NucleotideWhite People
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