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@ARTICLE{Huhn:136738,
author = {S. Huhn and M. I. da Silva Filho and T. Sanmuganantham and
T. Pichulik and C. Catalano$^*$ and B. Pardini and A.
Naccarati and V. Polakova-Vymetálkova and K. Jiraskova and
L. Vodickova and P. Vodicka and M. W. Löffler and L. Courth
and J. Wehkamp and F. V. N. Din and M. Timofeeva and S. M.
Farrington and L. Jansen$^*$ and K. Hemminki$^*$ and J.
Chang-Claude$^*$ and H. Brenner$^*$ and M. Hoffmeister$^*$
and M. G. Dunlop and A. N. R. Weber and A. Försti$^*$},
title = {{C}oding variants in {NOD}-like receptors: {A}n association
study on risk and survival of colorectal cancer.},
journal = {PLoS one},
volume = {13},
number = {6},
issn = {1932-6203},
address = {Lawrence, Kan.},
publisher = {PLoS},
reportid = {DKFZ-2018-01176},
pages = {e0199350 -},
year = {2018},
abstract = {Nod-like receptors (NLRs) are important innate pattern
recognition receptors and regulators of inflammation or play
a role during development. We systematically analysed 41
non-synonymous single nucleotide polymorphisms (SNPs) in 21
NLR genes in a Czech discovery cohort of sporadic colorectal
cancer (CRC) (1237 cases, 787 controls) for their
association with CRC risk and survival. Five SNPs were found
to be associated with CRC risk and eight with survival at
$5\%$ significance level. In a replication analysis using
data of two large genome-wide association studies (GWASs)
from Germany (DACHS: 1798 cases and 1810 controls) and
Scotland (2210 cases and 9350 controls) the associations
found in the Czech discovery set were not confirmed.
However, expression analysis in human gut-related tissues
and immune cells revealed that the NLRs associated with CRC
risk or survival in the discovery set were expressed in
primary human colon or rectum cells, CRC tissue and/or cell
lines, providing preliminary evidence for a potential
involvement of NLRs in general in CRC development and/or
progression. Most interesting was the finding that the
enigmatic development-related NLRP5 (also known as MATER)
was not expressed in normal colon tissue but in colon cancer
tissue and cell lines. Future studies may show whether
regulatory variants instead of coding variants might affect
the expression of NLRs and contribute to CRC risk and
survival.},
cin = {C050 / C070 / G110 / C020 / L101},
ddc = {500},
cid = {I:(DE-He78)C050-20160331 / I:(DE-He78)C070-20160331 /
I:(DE-He78)G110-20160331 / I:(DE-He78)C020-20160331 /
I:(DE-He78)L101-20160331},
pnm = {313 - Cancer risk factors and prevention (POF3-313)},
pid = {G:(DE-HGF)POF3-313},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:29928061},
pmc = {pmc:PMC6013205},
doi = {10.1371/journal.pone.0199350},
url = {https://inrepo02.dkfz.de/record/136738},
}