Article
No evidence for a role of rare CYP27B1 functional variations in multiple sclerosis.
Annals of neurology - 1 Mar 2013
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
Abstract excerpt
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...
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