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@ARTICLE{Schmiedel:130506,
author = {B. J. Schmiedel and G. Seumois and D. Samaniego-Castruita
and J. Cayford and V. Schulten and L. Chavez$^*$ and F. Ay
and A. Sette and B. Peters and P. Vijayanand},
title = {17q21 asthma-risk variants switch {CTCF} binding and
regulate {IL}-2 production by {T} cells.},
journal = {Nature Communications},
volume = {7},
issn = {2041-1723},
address = {London},
publisher = {Nature Publishing Group},
reportid = {DKFZ-2017-05585},
pages = {13426 -},
year = {2016},
abstract = {Asthma and autoimmune disease susceptibility has been
strongly linked to genetic variants in the 17q21 haploblock
that alter the expression of ORMDL3; however, the molecular
mechanisms by which these variants perturb gene expression
and the cell types in which this effect is most prominent
are unclear. We found several 17q21 variants overlapped
enhancers present mainly in primary immune cell types.
CD4(+) T cells showed the greatest increase (threefold) in
ORMDL3 expression in individuals carrying the asthma-risk
alleles, where ORMDL3 negatively regulated interleukin-2
production. The asthma-risk variants rs4065275 and
rs12936231 switched CTCF-binding sites in the 17q21 locus,
and 4C-Seq assays showed that several distal cis-regulatory
elements upstream of the disrupted ZPBP2 CTCF-binding site
interacted with the ORMDL3 promoter region in CD4(+) T cells
exclusively from subjects carrying asthma-risk alleles.
Overall, our results suggested that T cells are one of the
most prominent cell types affected by 17q21 variants.},
cin = {B062},
ddc = {500},
cid = {I:(DE-He78)B062-20160331},
pnm = {312 - Functional and structural genomics (POF3-312)},
pid = {G:(DE-HGF)POF3-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:27848966},
pmc = {pmc:PMC5116091},
doi = {10.1038/ncomms13426},
url = {https://inrepo02.dkfz.de/record/130506},
}