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No evidence of association between mutant alleles of the CYP27B1 gene and multiple sclerosis
Author(s) -
Ban Maria,
Caillier Stacy,
Mero IngerLise,
Myhr KjellMorten,
Celius Elisabeth G.,
Aarseth Jan,
Torkildsen Øivind,
Harbo Hanne F.,
Oksenberg Jorge,
Hauser Stephen L.,
Sawcer Stephen,
Compston Alastair
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.23833
Subject(s) - multiple sclerosis , allele , genetics , biology , gene , mutant , association (psychology) , psychology , immunology , psychotherapist
An association has previously been reported between susceptibility to multiple sclerosis and the rare mutant alleles of the CYP27B1 gene responsible for autosomal recessive vitamin D–dependent rickets type 1 ( VDDR1 ). In an attempt to replicate this finding, we screened 495 multiplex families and 2,092 single affected families, together with 4,594 cases and 3,583 controls (a total of 17,073 individuals) but were unable to find any evidence supporting this putative association. Our data do not indicate that mutations responsible for VDDR1 influence the risk of developing multiple sclerosis. ANN NEUROL 2013;73:430–432