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

Huhn, Stefanie (author)
German Cancer Research Centre,University Hospital Heidelberg
da Silva Filho, Miguel I. (author)
German Cancer Research Centre
Sanmuganantham, Tharmila (author)
University of Tübingen
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Pichulik, Tica (author)
University of Tübingen
Catalano, Calogerina (author)
German Cancer Research Centre
Pardini, Barbara (author)
Institute of Experimental Medicine, Czech Academy of Science,Italian Institute for Genomic Medicine (IIGM)
Naccarati, Alessio (author)
Italian Institute for Genomic Medicine (IIGM),Institute of Experimental Medicine, Czech Academy of Science
Polakova-Vymetálkova, Veronika (author)
Institute of Experimental Medicine, Czech Academy of Science,Charles University in Prague
Jiraskova, Katerina (author)
Institute of Experimental Medicine, Czech Academy of Science,Charles University in Prague
Vodickova, Ludmila (author)
Charles University in Prague,Institute of Experimental Medicine, Czech Academy of Science
Vodicka, Pavel (author)
Institute of Experimental Medicine, Czech Academy of Science,Charles University in Prague
Löffler, Markus W. (author)
University Hospital of Tubingen,University of Tübingen
Courth, Lioba (author)
University Hospital of Tubingen
Wehkamp, Jan (author)
University Hospital of Tubingen
Din, Farhat V.N. (author)
University of Edinburgh
Timofeeva, Maria (author)
University of Edinburgh
Farrington, Susan M. (author)
University of Edinburgh
Jansen, Lina (author)
German Cancer Research Centre
Hemminki, Kari (author)
Lund University,Lunds universitet,Allmänmedicin och klinisk epidemiologi,Forskargrupper vid Lunds universitet,Family Medicine and Clinical Epidemiology,Lund University Research Groups,Center for Primary Health Care Research,German Cancer Research Centre
Chang-Claude, Jenny (author)
German Cancer Research Centre
Brenner, Hermann (author)
German Cancer Research Centre
Hoffmeister, Michael (author)
German Cancer Research Centre
Dunlop, Malcolm G. (author)
University of Edinburgh
Weber, Alexander N.R. (author)
University of Tübingen
Försti, Asta (author)
Lund University,Lunds universitet,Allmänmedicin och klinisk epidemiologi,Forskargrupper vid Lunds universitet,Family Medicine and Clinical Epidemiology,Lund University Research Groups,German Cancer Research Centre,Center for Primary Health Care Research
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 (creator_code:org_t)
2018-06-21
2018
English.
In: PLoS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 13:6
Related links:
http://dx.doi.org/10... (free)
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https://doi.org/10.1...
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  • Journal article (peer-reviewed)
Abstract Subject headings
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  • 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.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)

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