title: No evidence for a role of rare CYP27B1 functional variations in multiple sclerosis.
abstract: 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.
authors.affiliation: Department of Health Sciences, University of Eastern Piedmont, Novara, Italy.
authors.forename: Nadia
authors.initials: N
authors.lastname: Barizzone
authors.forename: Ine
authors.initials: I
authors.lastname: Pauwels
authors.forename: Bernadetta
authors.initials: B
authors.lastname: Luciano
authors.forename: Dean
authors.initials: D
authors.lastname: Franckaert
authors.forename: Franca Rosa
authors.initials: FR
authors.lastname: Guerini
authors.forename: Leentje
authors.initials: L
authors.lastname: Cosemans
authors.forename: Kelly
authors.initials: K
authors.lastname: Hilven
authors.forename: Alessandro
authors.initials: A
authors.lastname: Salviati
authors.forename: James
authors.initials: J
authors.lastname: Dooley
authors.forename: Dina
authors.initials: D
authors.lastname: Danso-Abeam
authors.forename: Alessia
authors.initials: A
authors.lastname: di Sapio
authors.forename: Paola
authors.initials: P
authors.lastname: Cavalla
authors.forename: Brigitte
authors.initials: B
authors.lastname: Decallonne
authors.forename: Chantal
authors.initials: C
authors.lastname: Mathieu
authors.forename: Adrian
authors.initials: A
authors.lastname: Liston
authors.forename: Maurizio
authors.initials: M
authors.lastname: Leone
authors.forename: Bénédicte
authors.initials: B
authors.lastname: Dubois
authors.forename: Sandra
authors.initials: S
authors.lastname: D'Alfonso
authors.forename: An
authors.initials: A
authors.lastname: Goris
mesh_terms: D015090:25-Hydroxyvitamin D3 1-alpha-Hydroxylase / Q000235:genetics*; D000328:Adult; D001530:Belgium; D016022:Case-Control Studies; D019295:Computational Biology; D005260:Female; D005838:Genotype; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000097:blood / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D011863:Radioimmunoassay; D014807:Vitamin D / Q000031:analogs & derivatives / Q000097:blood; D055815:Young Adult
chemical_list: D014807:Vitamin D; C097949:1,25-dihydroxyvitamin D; C104450:25-hydroxyvitamin D; D015090:25-Hydroxyvitamin D3 1-alpha-Hydroxylase