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Coding variants in NOD-like receptors : An association study on risk and survival of colorectal cancer

Huhn, Stefanie ; da Silva Filho, Miguel I. LU ; Sanmuganantham, Tharmila ; Pichulik, Tica ; Catalano, Calogerina ; Pardini, Barbara ; Naccarati, Alessio ; Polakova-Vymetálkova, Veronika ; Jiraskova, Katerina and Vodickova, Ludmila , et al. (2018) In PLoS ONE 13(6).
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.... (More)

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.

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PLoS ONE
volume
13
issue
6
article number
e0199350
publisher
Public Library of Science
external identifiers
  • pmid:29928061
  • scopus:85048861525
ISSN
1932-6203
DOI
10.1371/journal.pone.0199350
language
English
LU publication?
yes
id
c3f151a7-24e8-43eb-b18b-f9f7813a1b3c
date added to LUP
2018-07-06 11:10:42
date last changed
2019-11-20 05:22:11
@article{c3f151a7-24e8-43eb-b18b-f9f7813a1b3c,
  abstract     = {<p>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.</p>},
  author       = {Huhn, Stefanie and da Silva Filho, Miguel I. and Sanmuganantham, Tharmila and Pichulik, Tica and Catalano, Calogerina and Pardini, Barbara and Naccarati, Alessio and Polakova-Vymetálkova, Veronika and Jiraskova, Katerina and Vodickova, Ludmila and Vodicka, Pavel and Löffler, Markus W. and Courth, Lioba and Wehkamp, Jan and Din, Farhat V.N. and Timofeeva, Maria and Farrington, Susan M. and Jansen, Lina and Hemminki, Kari and Chang-Claude, Jenny and Brenner, Hermann and Hoffmeister, Michael and Dunlop, Malcolm G. and Weber, Alexander N.R. and Försti, Asta},
  issn         = {1932-6203},
  language     = {eng},
  month        = {06},
  number       = {6},
  publisher    = {Public Library of Science},
  series       = {PLoS ONE},
  title        = {Coding variants in NOD-like receptors : An association study on risk and survival of colorectal cancer},
  url          = {http://dx.doi.org/10.1371/journal.pone.0199350},
  doi          = {10.1371/journal.pone.0199350},
  volume       = {13},
  year         = {2018},
}