Genetic evidence for a pathogenic role for the vitamin D3 metabolizing enzyme <i>CYP24A1</i> in multiple sclerosis.

ABSTRACT:

Background

Multiple sclerosis (MS) is a common disease of the central nervous system and a major cause of disability amongst young adults. Genome-wide association studies have identified many novel susceptibility loci including rs2248359. We hypothesized that genotypes of this locus could increase the risk of MS by regulating expression of neighboring gene, CYP24A1 which encodes the enzyme responsible for initiating degradation of 1,25-dihydroxyvitamin D3.

Methods

We investigated this hypothesis using paired gene expression and genotyping data from three independent datasets of neurologically healthy adults of European descent. The UK Brain Expression Consortium (UKBEC) consists of post-mortem samples across 10 brain regions originating from 134 individuals (1231 samp

SUBMITTER: Ramasamy A 

PROVIDER: S-EPMC4278441 | biostudies-literature | 2014 Mar

REPOSITORIES: biostudies-literature