No evidence for a role of rare CYP27B1 functional variations in multiple sclerosis. Issue 3 (11th March 2013)

• Record Type: Journal Article
• Authors: Barizzone, Nadia; Pauwels, Ine; Luciano, Bernadetta; Franckaert, Dean; Guerini, Franca Rosa; Cosemans, Leentje; Hilven, Kelly; Salviati, Alessandro; Dooley, James; Danso‐Abeam, Dina; di Sapio, Alessia; Cavalla, Paola; Decallonne, Brigitte; Mathieu, Chantal; Liston, Adrian; Leone, Maurizio; Dubois, Bénédicte; D'Alfonso, Sandra; Goris, An
• Is Part Of: Annals of neurology. Volume 73:Issue 3(2013:Mar.)
• Page Start: 433
• Page End: 437
• Publication Date: 2013-03-11
• Subjects: Neurology -- Periodicals; Pediatric neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; 616.8
• DOI: 10.1002/ana.23834
• Languages: English
• ISSNs: 0364-5134

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Association studies have implicated common variants in the 12q14.1 region containing <italic>CYP27B1</italic> in multiple sclerosis (MS). Rare <italic>CYP27B1</italic> mutations cause autosomal recessive vitamin D–dependent rickets type 1, and it has recently been reported that heterozygous <italic>CYP27B1</italic> mutations are associated with increased MS susceptibility and lower active vitamin D levels. By sequencing <italic>CYP27B1</italic> 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 <italic>CYP27B1</italic> mutations in MS. ANN NEUROL 2013;73:433–437</p> </abstract>