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No evidence of association between mutant alleles of the CYP27B1 gene and multiple sclerosis

Authors

  • Maria Ban PhD,

    Corresponding author
    • Department of Clinical Neurosciences, University of Cambridge, Addenbrooke's Hospital, Cambridge, United Kingdom
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  • Stacy Caillier BS,

    1. Department of Neurology, University of California, San Francisco, San Francisco, CA
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  • Inger-Lise Mero MD,

    1. Department of Neurology, Oslo University Hospital, Oslo, Norway
    2. Institute of Clinical Medicine, University of Oslo, Oslo, Norway
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  • Kjell-Morten Myhr MD, PhD,

    1. Norwegian Multiple Sclerosis Competence Center, Department of Neurology, Haukeland University Hospital, Bergen, Norway
    2. Kristian Gerhard Jebsen Center for MS-Research and Department of Clinical Medicine, University of Bergen, Bergen, Norway
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  • Elisabeth G. Celius MD, PhD,

    1. Department of Neurology, Oslo University Hospital, Oslo, Norway
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  • Jan Aarseth PhD,

    1. Norwegian Multiple Sclerosis Competence Center, Department of Neurology, Haukeland University Hospital, Bergen, Norway
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  • Øivind Torkildsen MD, PhD,

    1. Norwegian Multiple Sclerosis Competence Center, Department of Neurology, Haukeland University Hospital, Bergen, Norway
    2. Kristian Gerhard Jebsen Center for MS-Research and Department of Clinical Medicine, University of Bergen, Bergen, Norway
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  • Hanne F. Harbo MD, PhD,

    1. Department of Neurology, Oslo University Hospital, Oslo, Norway
    2. Institute of Clinical Medicine, University of Oslo, Oslo, Norway
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  • Jorge Oksenberg PhD,

    1. Department of Neurology, University of California, San Francisco, San Francisco, CA
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  • Stephen L. Hauser MD,

    1. Department of Neurology, University of California, San Francisco, San Francisco, CA
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  • Stephen Sawcer MD, PhD,

    1. Department of Clinical Neurosciences, University of Cambridge, Addenbrooke's Hospital, Cambridge, United Kingdom
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  • Alastair Compston MD, PhD

    1. Department of Clinical Neurosciences, University of Cambridge, Addenbrooke's Hospital, Cambridge, United Kingdom
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Address correspondence to Dr Ban, University of Cambridge, Department of Clinical Neurosciences, Addenbrooke's Hospital, BOX 165, Hills Road, Cambridge, CB2 0QQ, United Kingdom. E-mail: mb531@medschl.cam.ac.uk

Abstract

An association has previously been reported between susceptibility to multiple sclerosis and the rare mutant alleles of the CYP27B1 gene responsible for autosomal recessive vitamin D–dependent rickets type 1 (VDDR1). In an attempt to replicate this finding, we screened 495 multiplex families and 2,092 single affected families, together with 4,594 cases and 3,583 controls (a total of 17,073 individuals) but were unable to find any evidence supporting this putative association. Our data do not indicate that mutations responsible for VDDR1 influence the risk of developing multiple sclerosis. ANN NEUROL 2013;73:430–432

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