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Functionally defective germline variants of sialic acid acetylesterase in autoimmunity

Author

Listed:
  • Ira Surolia

    (Cancer Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA)

  • Stephan P. Pirnie

    (Cancer Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA)

  • Vasant Chellappa

    (Cancer Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA)

  • Kendra N. Taylor

    (Cancer Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA)

  • Annaiah Cariappa

    (Cancer Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA)

  • Jesse Moya

    (Cancer Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA)

  • Haoyuan Liu

    (Cancer Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA)

  • Daphne W. Bell

    (Cancer Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
    Present addresses: Cancer Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland 20892, USA (D.W.B.); German Cancer Research Center and Institute of Pathology, University of Heidelberg, D-69120 Heidelberg, Germany (S.D.); University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA (D.K.P.).)

  • David R. Driscoll

    (Cancer Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA)

  • Sven Diederichs

    (Cancer Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
    Present addresses: Cancer Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland 20892, USA (D.W.B.); German Cancer Research Center and Institute of Pathology, University of Heidelberg, D-69120 Heidelberg, Germany (S.D.); University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA (D.K.P.).)

  • Khaleda Haider

    (Cancer Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA)

  • Ilka Netravali

    (Cancer Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA)

  • Sheila Le

    (Cancer Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA)

  • Roberto Elia

    (Cancer Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA)

  • Ethan Dow

    (Cancer Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA)

  • Annette Lee

    (Feinstein Institute for Medical Research, North Shore LIJ Health System, Manhasset, New York 11030, USA)

  • Jan Freudenberg

    (Feinstein Institute for Medical Research, North Shore LIJ Health System, Manhasset, New York 11030, USA)

  • Philip L. De Jager

    (Center for Neurologic Diseases, Brigham & Women’s Hospital and Partners Center for Personalized Genetic Medicine, Boston, Massachusetts 02115, USA
    Program in Medical & Population Genetics, Broad Institute of Harvard University and Massachusetts Institute of Technology, Cambridge, Massachusetts 02142, USA)

  • Yves Chretien

    (Harvard University, Cambridge, Massachusetts 02138, USA)

  • Ajit Varki

    (University of California, San Diego, La Jolla, California 92093, USA)

  • Marcy E. MacDonald

    (Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA)

  • Tammy Gillis

    (Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA)

  • Timothy W. Behrens

    (Genentech Inc., South San Francisco, California 94080, USA)

  • Donald Bloch

    (Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA)

  • Deborah Collier

    (Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA)

  • Joshua Korzenik

    (Gastrointestinal Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA)

  • Daniel K. Podolsky

    (Gastrointestinal Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
    Present addresses: Cancer Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland 20892, USA (D.W.B.); German Cancer Research Center and Institute of Pathology, University of Heidelberg, D-69120 Heidelberg, Germany (S.D.); University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA (D.K.P.).)

  • David Hafler

    (Center for Neurologic Diseases, Brigham & Women’s Hospital and Partners Center for Personalized Genetic Medicine, Boston, Massachusetts 02115, USA
    Program in Medical & Population Genetics, Broad Institute of Harvard University and Massachusetts Institute of Technology, Cambridge, Massachusetts 02142, USA)

  • Mandakolathur Murali

    (Clinical Immunology Laboratory, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA)

  • Bruce Sands

    (Gastrointestinal Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA)

  • John H. Stone

    (Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA)

  • Peter K. Gregersen

    (Feinstein Institute for Medical Research, North Shore LIJ Health System, Manhasset, New York 11030, USA)

  • Shiv Pillai

    (Cancer Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA)

Abstract

Esterase defect causes autoimmunity The enzyme sialic acid acetylesterase (SIAE) is involved in B-cell activation and is required for the maintenance of immunological tolerance in mice. A sequencing study shows that rare, inherited and functionally defective variants in the SIAE gene associate with a variety of autoimmune diseases in humans. The study provides one of the first examples of the importance of rare variants in complex diseases such as those involving autoimmunity.

Suggested Citation

  • Ira Surolia & Stephan P. Pirnie & Vasant Chellappa & Kendra N. Taylor & Annaiah Cariappa & Jesse Moya & Haoyuan Liu & Daphne W. Bell & David R. Driscoll & Sven Diederichs & Khaleda Haider & Ilka Netra, 2010. "Functionally defective germline variants of sialic acid acetylesterase in autoimmunity," Nature, Nature, vol. 466(7303), pages 243-247, July.
    • Handle: RePEc:nat:nature:v:466:y:2010:i:7303:d:10.1038_nature09115
    DOI: 10.1038/nature09115
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