Journal Article

DKFZ-2018-01176

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Coding variants in NOD-like receptors: An association study on risk and survival of colorectal cancer.

Huhn, S. ; da Silva Filho, M. I. ; Sanmuganantham, T. ; Pichulik, T. ; Catalano, C.DKFZ* ; Pardini, B. ; Naccarati, A. ; Polakova-Vymetálkova, V. ; Jiraskova, K. ; Vodickova, L. ; Vodicka, P. ; Löffler, M. W. ; Courth, L. ; Wehkamp, J. ; Din, F. V. N. ; Timofeeva, M. ; Farrington, S. M.Extern* ; Jansen, L.DKFZ* ; Hemminki, K.DKFZ* ; Chang-Claude, J.DKFZ* ; Brenner, H.DKFZ* ; Hoffmeister, M.DKFZ* ; Dunlop, M. G. ; Weber, A. N. R. ; Försti, A. (Last author)DKFZ*

2018
PLoS Lawrence, Kan.

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Please use a persistent id in citations: doi:10.1371/journal.pone.0199350

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.

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Contributing Institute(s):

1. Molekular-Genetische Epidemiologie (C050)
2. C070 Klinische Epidemiologie und Alternf. (C070)
3. Präventive Onkologie (G110)
4. C020 Epidemiologie von Krebs (C020)
5. DKTK Heidelberg (L101)

Research Program(s):

1. 313 - Cancer risk factors and prevention (POF3-313) (POF3-313)

Appears in the scientific report 2018

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Database coverage:
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