No evidence for a role of rare CYP27B1 functional variations in multiple sclerosis

Nadia Barizzone, Ine Pauwels, Bernadetta Luciano, Dean Franckaert, Franca Rosa Guerini, Leentje Cosemans, Kelly Hilven, Alessandro Salviati, James Dooley, Dina Danso-Abeam, Alessia Di Sapio, Paola Cavalla, Brigitte Decallonne, Chantal Mathieu, Adrian Liston, Maurizio Leone, Bénédicte Dubois, Sandra D'Alfonso, An Goris

Research output: Contribution to journalArticlepeer-review


Association studies have implicated common variants in the 12q14.1 region containing CYP27B1 in multiple sclerosis (MS). Rare CYP27B1 mutations cause autosomal recessive vitamin D-dependent rickets type 1, and it has recently been reported that heterozygous CYP27B1 mutations are associated with increased MS susceptibility and lower active vitamin D levels. By sequencing CYP27B1 in 134 multiplex families and genotyping the most common variant R389H in 2,608 MS patients and 1,987 controls from Italy and Belgium (a total of 4,729 individuals), we were unable to replicate these observations. These results provide evidence against a major role for CYP27B1 mutations in MS. ANN NEUROL 2013;73:433-437

Original languageEnglish
Pages (from-to)433-437
Number of pages5
JournalAnnals of Neurology
Issue number3
Publication statusPublished - Mar 2013

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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