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@ARTICLE{Ajore:178451,
author = {R. Ajore and A. Niroula and M. Pertesi and C. Cafaro and M.
Thodberg and M. Went and E. L. Bao and L. Duran-Lozano and
A. Lopez de Lapuente Portilla and T. Olafsdottir and N.
Ugidos-Damboriena and O. Magnusson and M. Samur and C. A.
Lareau and G. H. Halldorsson and G. Thorleifsson and G. L.
Norddahl and K. Gunnarsdottir and A. Försti$^*$ and H.
Goldschmidt and K. Hemminki$^*$ and F. van Rhee and S.
Kimber and A. S. Sperling and M. Kaiser and K. Anderson and
I. Jonsdottir and N. Munshi and T. Rafnar and A. Waage and
N. Weinhold$^*$ and U. Thorsteinsdottir and V. G. Sankaran
and K. Stefansson and R. Houlston and B. Nilsson},
title = {{F}unctional dissection of inherited non-coding variation
influencing multiple myeloma risk.},
journal = {Nature Communications},
volume = {13},
number = {1},
issn = {2041-1723},
address = {[London]},
publisher = {Nature Publishing Group UK},
reportid = {DKFZ-2022-00077},
pages = {151},
year = {2022},
abstract = {Thousands of non-coding variants have been associated with
increased risk of human diseases, yet the causal variants
and their mechanisms-of-action remain obscure. In an
integrative study combining massively parallel reporter
assays (MPRA), expression analyses (eQTL, meQTL, PCHiC) and
chromatin accessibility analyses in primary cells (caQTL),
we investigate 1,039 variants associated with multiple
myeloma (MM). We demonstrate that MM susceptibility is
mediated by gene-regulatory changes in plasma cells and
B-cells, and identify putative causal variants at six risk
loci (SMARCD3, WAC, ELL2, CDCA7L, CEP120, and PREX1).
Notably, three of these variants co-localize with
significant plasma cell caQTLs, signaling the presence of
causal activity at these precise genomic positions in an
endogenous chromosomal context in vivo. Our results provide
a systematic functional dissection of risk loci for a
hematologic malignancy.},
cin = {B062 / C020},
ddc = {500},
cid = {I:(DE-He78)B062-20160331 / I:(DE-He78)C020-20160331},
pnm = {312 - Funktionelle und strukturelle Genomforschung
(POF4-312)},
pid = {G:(DE-HGF)POF4-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:35013207},
doi = {10.1038/s41467-021-27666-x},
url = {https://inrepo02.dkfz.de/record/178451},
}