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Title: No evidence for a role of rare CYP27B1 functional variations in multiple sclerosis
Authors: 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 # ×
Issue Date: Mar-2013
Publisher: American Neurological Association
Series Title: Annals of Neurology vol:73 issue:3 pages:433-437
Article number: 10.1002/ana.23834
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. ANN NEUROL 2013;73:433-437.
URI: 
ISSN: 0364-5134
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory of Genetics of Autoimmunity
Laboratory for Neuroimmunology
Clinical and Experimental Endocrinology
* (joint) first author
× corresponding author
# (joint) last author

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