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Coding variants in NOD-like receptors: An association study on risk and survival of colorectal cancer
S. Huhn, MI. da Silva Filho, T. Sanmuganantham, T. Pichulik, C. Catalano, B. Pardini, A. Naccarati, V. Polakova-Vymetálkova, K. Jiraskova, L. Vodickova, P. Vodicka, MW. Löffler, L. Courth, J. Wehkamp, FVN. Din, M. Timofeeva, SM. Farrington, L....
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články, Research Support, N.I.H., Extramural, práce podpořená grantem
Grantová podpora
MC_PC_U127527198
Medical Research Council - United Kingdom
C348/A18927
Cancer Research UK - United Kingdom
BB/F019394/1
Biotechnology and Biological Sciences Research Council - United Kingdom
G0700704/84698
Medical Research Council - United Kingdom
MR/K026992/1
Medical Research Council - United Kingdom
CZD/16/6
Chief Scientist Office - International
104036/Z/14/Z
Wellcome Trust - United Kingdom
NV15-27580A
MZ0
CEP - Centrální evidence projektů
Digitální knihovna NLK
Plný text - Článek
NLK
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- MeSH
- analýza přežití MeSH
- genetická predispozice k nemoci MeSH
- genetická variace * MeSH
- genetické asociační studie * MeSH
- hematopoéza genetika MeSH
- jednonukleotidový polymorfismus genetika MeSH
- kolorektální nádory genetika MeSH
- lidé MeSH
- NLR proteiny genetika MeSH
- otevřené čtecí rámce genetika MeSH
- regulace genové exprese u nádorů MeSH
- rizikové faktory MeSH
- senioři MeSH
- studie případů a kontrol MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
- Geografické názvy
- Česká republika MeSH
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.
Department of Internal Medicine 1 University Hospital Tübingen Tübingen Germany
Department of Molecular Genetic Epidemiology German Cancer Research Center Heidelberg Germany
Division of Cancer Epidemiology German Cancer Research Center Heidelberg Germany
Citace poskytuje Crossref.org
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