Imperial College London
Alternate

Dr Antonio J Berlanga-Taylor

Faculty of Medicine, School of Public Health

Honorary Senior Research Fellow
 
 
 
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Contact

 

a.berlanga

 
 
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Location

 

47 Praed StreetSt Mary's Campus

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Summary

 

Publications

Citation

BibTex format

@article{Disanto:2012:10.1371/journal.pone.0032281,
author = {Disanto, G and Sandve, GK and Berlanga-Taylor, AJ and Morahan, JM and Dobson, R and Giovannoni, G and Ramagopalan, SV},
doi = {10.1371/journal.pone.0032281},
journal = {PLoS One},
title = {Genomic regions associated with multiple sclerosis are active in B cells.},
url = {http://dx.doi.org/10.1371/journal.pone.0032281},
volume = {7},
year = {2012}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - More than 50 genomic regions have now been shown to influence the risk of multiple sclerosis (MS). However, the mechanisms of action, and the cell types in which these associated variants act at the molecular level remain largely unknown. This is especially true for associated regions containing no known genes. Given the evidence for a role for B cells in MS, we hypothesized that MS associated genomic regions co-localized with regions which are functionally active in B cells. We used publicly available data on 1) MS associated regions and single nucleotide polymorphisms (SNPs) and 2) chromatin profiling in B cells as well as three additional cell types thought to be unrelated to MS (hepatocytes, fibroblasts and keratinocytes). Genomic intervals and SNPs were tested for overlap using the Genomic Hyperbrowser. We found that MS associated regions are significantly enriched in strong enhancer, active promoter and strong transcribed regions (p=0.00005) and that this overlap is significantly higher in B cells than control cells. In addition, MS associated SNPs also land in active promoter (p=0.00005) and enhancer regions more than expected by chance (strong enhancer p=0.0006; weak enhancer p=0.00005). These results confirm the important role of the immune system and specifically B cells in MS and suggest that MS risk variants exert a gene regulatory role. Previous studies assessing MS risk variants in T cells may be missing important effects in B cells. Similar analyses in other immunological cell types relevant to MS and functional studies are necessary to fully elucidate how genes contribute to MS pathogenesis.
AU  - Disanto,G
AU  - Sandve,GK
AU  - Berlanga-Taylor,AJ
AU  - Morahan,JM
AU  - Dobson,R
AU  - Giovannoni,G
AU  - Ramagopalan,SV
DO  - 10.1371/journal.pone.0032281
PY  - 2012///
SN  - 1932-6203
TI  - Genomic regions associated with multiple sclerosis are active in B cells.
T2  - PLoS One
UR  - http://dx.doi.org/10.1371/journal.pone.0032281
UR  - http://www.ncbi.nlm.nih.gov/pubmed/22396755
UR  - http://hdl.handle.net/10044/1/48516
VL  - 7
ER  -
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