No evidence of association between mutant alleles of the CYP27B1 gene and multiple sclerosis |
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| Authors: | Maria Ban PhD Stacy Caillier BS Inger‐Lise Mero MD Kjell‐Morten Myhr MD PhD Elisabeth G. Celius MD PhD Jan Aarseth PhD Øivind Torkildsen MD PhD Hanne F. Harbo MD PhD Jorge Oksenberg PhD Stephen L. Hauser MD Stephen Sawcer MD PhD Alastair Compston MD PhD |
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| Affiliation: | 1. Department of Clinical Neurosciences, University of Cambridge, Addenbrooke's Hospital, , Cambridge, United Kingdom;2. Department of Neurology, University of California, San Francisco, , San Francisco, CA;3. Department of Neurology, Oslo University Hospital, , Oslo, Norway;4. Institute of Clinical Medicine, University of Oslo, , Oslo, Norway;5. Norwegian Multiple Sclerosis Competence Center, Department of Neurology, Haukeland University Hospital, , Bergen, Norway;6. Kristian Gerhard Jebsen Center for MS‐Research and Department of Clinical Medicine, University of Bergen, , Bergen, Norway |
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| 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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