No evidence of association between mutant alleles of the CYP27B1 gene and multiple sclerosis.
case_control · Level III
Where this comes from
- Record sourced from PubMed, PMID 23444327.
- Also identified by DOI 10.1002/ana.23833 and PMC identifier 3631291.
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Abstract
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.
Medical subject headings
- 25-Hydroxyvitamin D3 1-alpha-Hydroxylase
- Multiple Sclerosis
- Mutation