Gene for Vitamin D Metabolism Implicated in Multiple Sclerosis

To identify rare alleles associated with familial transmission of risk for multiple sclerosis (MS), investigators conducted genetic analyses in more than 12,000 people from a cohort of more than 30,000 families, including 43 families that had four or more individuals with MS.

By focusing on genetic regions associated with MS in a previous genome-wide association study, the researchers identified a single nucleotide polymorphism within the CYP27B1 gene that was present in all four individuals with MS from one genotyped family and was incompletely penetrant. Additional CYP27B1 mutations were found within 3046 trios of parents with an affected child and in 422 parent–affected sibling pairs. The CYP27B1 mutation frequency was 0.9% in MS patients…