Journal article
The CYP27B1 variant associated with an increased risk of autoimmune disease is underexpressed in tolerizing dendritic cells
F Shahijanian, GP Parnell, FC Mckay, PN Gatt, M Shojoei, KS O'Connor, SD Schibeci, F Brilot, C Liddle, M Batten, GJ Stewart, DR Booth, A Baxter, A Kermode, W Carroll, H Butzkueven, S Vucic, J Wiley, J Field, L Tajouri Show all
Human Molecular Genetics | OXFORD UNIV PRESS | Published : 2014
DOI: 10.1093/hmg/ddt529
Abstract
Genome-wide association studies have identified a linkage disequilibrium (LD) block on chromosome 12 associated with multiple sclerosis (MS), type 1 diabetes and other autoimmune diseases. This block contains CYP27B1, which catalyzes the conversion of 25 vitamin D3 (VitD3) to 1,25VitD3. Fine-mapping analysis has failed to identify which of the 17 genes in this block is most associated with MS. We have previously used a functional approach to identify the causal gene. We showed that the expression of several genes in this block in whole blood is highly associated with the MS risk allele, but not CYP27B1. Here, we show that CYP27B1 is predominantly expressed in dendritic cells (DCs). Its expre..
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Grants
Awarded by National Health and Medical Research Council
Funding Acknowledgements
This work was supported by Australian National Health and Medical Research Council Project (Grants 1049936 and 633275) and Multiple Sclerosis Research Australia Project Grants. David Booth is funded by the Hunt Family MS Senior Research Fellowship.