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No evidence for a role of rare CYP27B1 functional variations in multiple sclerosis
Author(s) -
Barizzone Nadia,
Pauwels Ine,
Luciano Bernadetta,
Franckaert Dean,
Guerini Franca Rosa,
Cosemans Leentje,
Hilven Kelly,
Salviati Alessandro,
Dooley James,
DansoAbeam Dina,
di Sapio Alessia,
Cavalla Paola,
Decallonne Brigitte,
Mathieu Chantal,
Liston Adrian,
Leone Maurizio,
Dubois Bénédicte,
D'Alfonso Sandra,
Goris An
Publication year - 2013
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.23834
Subject(s) - vitamin d and neurology , multiple sclerosis , biology , genotyping , genetics , genotype , endocrinology , gene , immunology
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. ANN NEUROL 2013;73:433–437