title: No evidence of association between mutant alleles of the CYP27B1 gene and multiple sclerosis.
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.
authors: Department of Clinical Neurosciences, University of Cambridge, Addenbrooke's Hospital, Cambridge, United Kingdom. mb531@medschl.cam.ac.uk
authors: Maria
authors: M
authors: Ban
authors: Stacy
authors: S
authors: Caillier
authors: Inger-Lise
authors: IL
authors: Mero
authors: Kjell-Morten
authors: KM
authors: Myhr
authors: Elisabeth G
authors: EG
authors: Celius
authors: Jan
authors: J
authors: Aarseth
authors: Øivind
authors: Ø
authors: Torkildsen
authors: Hanne F
authors: HF
authors: Harbo
authors: Jorge
authors: J
authors: Oksenberg
authors: Stephen L
authors: SL
authors: Hauser
authors: Stephen
authors: S
authors: Sawcer
authors: Alastair
authors: A
authors: Compston
mesh_terms: D015090:25-Hydroxyvitamin D3 1-alpha-Hydroxylase / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D009103:Multiple Sclerosis / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009664:Norway; D006113:United Kingdom
chemical_list: D015090:25-Hydroxyvitamin D3 1-alpha-Hydroxylase