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Genome-wide association study identifies Sjögren’s risk loci with functional implications in immune and glandular cells

Author

Listed:
  • Bhuwan Khatri

    (Oklahoma Medical Research Foundation)

  • Kandice L. Tessneer

    (Oklahoma Medical Research Foundation)

  • Astrid Rasmussen

    (Oklahoma Medical Research Foundation)

  • Farhang Aghakhanian

    (Oklahoma Medical Research Foundation)

  • Tove Ragna Reksten

    (Oklahoma Medical Research Foundation
    University of Bergen)

  • Adam Adler

    (Oklahoma Medical Research Foundation)

  • Ilias Alevizos

    (National Institute of Dental and Craniofacial Research)

  • Juan-Manuel Anaya

    (Universidad del Rosario)

  • Lara A. Aqrawi

    (University of Oslo
    Kristiania University College)

  • Eva Baecklund

    (Uppsala University)

  • Johan G. Brun

    (University of Bergen)

  • Sara Magnusson Bucher

    (Örebro University)

  • Maija-Leena Eloranta

    (Uppsala University)

  • Fiona Engelke

    (Hannover Medical School)

  • Helena Forsblad-d’Elia

    (Sahlgrenska Academy at University of Gothenburg)

  • Stuart B. Glenn

    (Oklahoma Medical Research Foundation)

  • Daniel Hammenfors

    (Haukeland University Hospital)

  • Juliana Imgenberg-Kreuz

    (Uppsala University)

  • Janicke Liaaen Jensen

    (University of Oslo)

  • Svein Joar Auglænd Johnsen

    (Stavanger University Hospital)

  • Malin V. Jonsson

    (University of Bergen
    University of Bergen)

  • Marika Kvarnström

    (Karolinska University Hospital, Karolinska Institutet
    Center for Rheumatology and Studieenheten, Stockholm Health Services)

  • Jennifer A. Kelly

    (Oklahoma Medical Research Foundation)

  • He Li

    (Oklahoma Medical Research Foundation
    The Janssen Pharmaceutical Companies of Johnson & Johnson)

  • Thomas Mandl

    (Lund University)

  • Javier Martín

    (Consejo Superior de Investigaciones Científicas (CSIC))

  • Gaétane Nocturne

    (Université Paris-Saclay, Assistance Publique–Hôpitaux de Paris (AP-HP), Hôpital Bicêtre, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR1184)

  • Katrine Brække Norheim

    (University of Bergen
    Stavanger University Hospital)

  • Øyvind Palm

    (University of Oslo)

  • Kathrine Skarstein

    (University of Bergen
    Haukeland University Hospital)

  • Anna M. Stolarczyk

    (Oklahoma Medical Research Foundation)

  • Kimberly E. Taylor

    (University of California San Francisco)

  • Maria Teruel

    (Pfizer/University of Granada/Andalusian Regional Government)

  • Elke Theander

    (Skåne University Hospital
    Jannsen-Cilag EMEA (Europe/Middle East/Africa))

  • Swamy Venuturupalli

    (Cedars-Sinai Medical Center
    University of California Los Angeles)

  • Daniel J. Wallace

    (Cedars-Sinai Medical Center
    University of California Los Angeles)

  • Kiely M. Grundahl

    (Oklahoma Medical Research Foundation)

  • Kimberly S. Hefner

    (Hefner Eye Care and Optical Center)

  • Lida Radfar

    (University of Oklahoma College of Dentistry)

  • David M. Lewis

    (University of Oklahoma College of Dentistry)

  • Donald U. Stone

    (University of Oklahoma Health Sciences Center)

  • C. Erick Kaufman

    (University of Oklahoma Health Sciences Center)

  • Michael T. Brennan

    (Atrium Health Carolinas Medical Center
    Wake Forest University School of Medicine)

  • Joel M. Guthridge

    (Oklahoma Medical Research Foundation
    University of Oklahoma Health Sciences Center)

  • Judith A. James

    (Oklahoma Medical Research Foundation
    University of Oklahoma Health Sciences Center)

  • R. Hal Scofield

    (Oklahoma Medical Research Foundation
    University of Oklahoma Health Sciences Center
    US Department of Veterans Affairs Medical Center)

  • Patrick M. Gaffney

    (Oklahoma Medical Research Foundation)

  • Lindsey A. Criswell

    (University of California San Francisco
    University of California San Francisco
    National Human Genome Research Institute, NIH)

  • Roland Jonsson

    (University of Bergen
    Haukeland University Hospital)

  • Per Eriksson

    (Linköping University)

  • Simon J. Bowman

    (University Hospital Birmingham NHS Foundation Trust
    University of Birmingham
    Milton Keynes University Hospital)

  • Roald Omdal

    (University of Bergen
    Stavanger University Hospital)

  • Lars Rönnblom

    (Uppsala University)

  • Blake Warner

    (National Institute of Dental and Craniofacial Research)

  • Maureen Rischmueller

    (The Queen Elizabeth Hospital
    University of Adelaide)

  • Torsten Witte

    (Hannover Medical School)

  • A. Darise Farris

    (Oklahoma Medical Research Foundation)

  • Xavier Mariette

    (Université Paris-Saclay, Assistance Publique–Hôpitaux de Paris (AP-HP), Hôpital Bicêtre, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR1184)

  • Marta E. Alarcon-Riquelme

    (Pfizer/University of Granada/Andalusian Regional Government)

  • Caroline H. Shiboski

    (Department of Orofacial Sciences, University of California San Francisco)

  • Marie Wahren-Herlenius

    (University of Bergen
    Karolinska University Hospital, Karolinska Institutet)

  • Wan-Fai Ng

    (Newcastle University
    Newcastle upon Tyne Hospitals NHS Foundation Trust)

  • Kathy L. Sivils

    (Oklahoma Medical Research Foundation
    The Janssen Pharmaceutical Companies of Johnson & Johnson)

  • Indra Adrianto

    (Henry Ford Health System)

  • Gunnel Nordmark

    (Uppsala University)

  • Christopher J. Lessard

    (Oklahoma Medical Research Foundation
    University of Oklahoma Health Sciences Center)

Abstract

Sjögren’s disease is a complex autoimmune disease with twelve established susceptibility loci. This genome-wide association study (GWAS) identifies ten novel genome-wide significant (GWS) regions in Sjögren’s cases of European ancestry: CD247, NAB1, PTTG1-MIR146A, PRDM1-ATG5, TNFAIP3, XKR6, MAPT-CRHR1, RPTOR-CHMP6-BAIAP6, TYK2, SYNGR1. Polygenic risk scores yield predictability (AUROC = 0.71) and relative risk of 12.08. Interrogation of bioinformatics databases refine the associations, define local regulatory networks of GWS SNPs from the 95% credible set, and expand the implicated gene list to >40. Many GWS SNPs are eQTLs for genes within topologically associated domains in immune cells and/or eQTLs in the main target tissue, salivary glands.

Suggested Citation

  • Bhuwan Khatri & Kandice L. Tessneer & Astrid Rasmussen & Farhang Aghakhanian & Tove Ragna Reksten & Adam Adler & Ilias Alevizos & Juan-Manuel Anaya & Lara A. Aqrawi & Eva Baecklund & Johan G. Brun & S, 2022. "Genome-wide association study identifies Sjögren’s risk loci with functional implications in immune and glandular cells," Nature Communications, Nature, vol. 13(1), pages 1-17, December.
    • Handle: RePEc:nat:natcom:v:13:y:2022:i:1:d:10.1038_s41467-022-30773-y
    DOI: 10.1038/s41467-022-30773-y
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    References listed on IDEAS

    as
    1. Jesse R. Dixon & Siddarth Selvaraj & Feng Yue & Audrey Kim & Yan Li & Yin Shen & Ming Hu & Jun S. Liu & Bing Ren, 2012. "Topological domains in mammalian genomes identified by analysis of chromatin interactions," Nature, Nature, vol. 485(7398), pages 376-380, May.
    2. Kyoko Watanabe & Erdogan Taskesen & Arjen Bochoven & Danielle Posthuma, 2017. "Functional mapping and annotation of genetic associations with FUMA," Nature Communications, Nature, vol. 8(1), pages 1-11, December.
    Full references (including those not matched with items on IDEAS)

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    Cited by:

    1. Sourya Bhattacharyya & Ferhat Ay, 2024. "Identifying genetic variants associated with chromatin looping and genome function," Nature Communications, Nature, vol. 15(1), pages 1-22, December.

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