No evidence for a role of rare CYP27B1 functional variations in multiple sclerosis

Nadia Barizzone; Ine Pauwels; Bernadetta Luciano; Dean Franckaert; Franca Rosa Guerini; Leentje Cosemans; Kelly Hilven; Alessandro Salviati; James Dooley; Dina Danso-Abeam; Alessia Di Sapio; Paola Cavalla; Brigitte Decallonne; Chantal Mathieu; Adrian Liston; Maurizio Leone; Bénédicte Dubois; Sandra D'Alfonso; An Goris

doi:10.1002/ana.23834

No evidence for a role of rare CYP27B1 functional variations in multiple sclerosis

Nadia Barizzone, Ine Pauwels, Bernadetta Luciano, Dean Franckaert, Franca Rosa Guerini, Leentje Cosemans, Kelly Hilven, Alessandro Salviati, James Dooley, Dina Danso-Abeam, Alessia Di Sapio, Paola Cavalla, Brigitte Decallonne, Chantal Mathieu, Adrian Liston, Maurizio Leone, Bénédicte Dubois, Sandra D'Alfonso, An Goris

Dipartimento di Scienze della Salute

Risultato della ricerca: Contributo su rivista › Articolo in rivista › peer review

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

Lingua originale	Inglese
pagine (da-a)	433-437
Numero di pagine	5
Rivista	Annals of Neurology
Volume	73
Numero di pubblicazione	3
DOI	https://doi.org/10.1002/ana.23834
Stato di pubblicazione	Pubblicato - mar 2013

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10.1002/ana.23834

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Barizzone, N., Pauwels, I., Luciano, B., Franckaert, D., Guerini, F. R., Cosemans, L., Hilven, K., Salviati, A., Dooley, J., Danso-Abeam, D., Di Sapio, A., Cavalla, P., Decallonne, B., Mathieu, C., Liston, A., Leone, M., Dubois, B., D'Alfonso, S., & Goris, A. (2013). No evidence for a role of rare CYP27B1 functional variations in multiple sclerosis. Annals of Neurology, 73(3), 433-437. https://doi.org/10.1002/ana.23834

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title = "No evidence for a role of rare CYP27B1 functional variations in multiple sclerosis",

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",

author = "Nadia Barizzone and Ine Pauwels and Bernadetta Luciano and Dean Franckaert and Guerini, {Franca Rosa} and Leentje Cosemans and Kelly Hilven and Alessandro Salviati and James Dooley and Dina Danso-Abeam and {Di Sapio}, Alessia and Paola Cavalla and Brigitte Decallonne and Chantal Mathieu and Adrian Liston and Maurizio Leone and B{\'e}n{\'e}dicte Dubois and Sandra D'Alfonso and An Goris",

year = "2013",

month = mar,

doi = "10.1002/ana.23834",

language = "English",

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Barizzone, N, Pauwels, I, Luciano, B, Franckaert, D, Guerini, FR, Cosemans, L, Hilven, K, Salviati, A, Dooley, J, Danso-Abeam, D, Di Sapio, A, Cavalla, P, Decallonne, B, Mathieu, C, Liston, A, Leone, M, Dubois, B, D'Alfonso, S & Goris, A 2013, 'No evidence for a role of rare CYP27B1 functional variations in multiple sclerosis', Annals of Neurology, vol. 73, n. 3, pagg. 433-437. https://doi.org/10.1002/ana.23834

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AU - Franckaert, Dean

AU - Guerini, Franca Rosa

AU - Cosemans, Leentje

AU - Hilven, Kelly

AU - Salviati, Alessandro

AU - Dooley, James

AU - Danso-Abeam, Dina

AU - Di Sapio, Alessia

AU - Cavalla, Paola

AU - Decallonne, Brigitte

AU - Mathieu, Chantal

AU - Liston, Adrian

AU - Leone, Maurizio

AU - Dubois, Bénédicte

AU - D'Alfonso, Sandra

AU - Goris, An

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AB - 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

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No evidence for a role of rare CYP27B1 functional variations in multiple sclerosis

Abstract

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