Coding variants in NOD-like receptors: An association study on risk and survival of colorectal cancer
Autor: | Asta Försti, Tharmila Sanmuganantham, Farhat V N Din, Miguel Inacio da Silva Filho, Alessio Naccarati, Maria Timofeeva, Malcolm G. Dunlop, Alexander N.R. Weber, Hermann Brenner, Jan Wehkamp, Veronika Polakova-Vymetálkova, Kari Hemminki, Lina Jansen, Jenny Chang-Claude, Markus W. Löffler, Calogerina Catalano, Michael Hoffmeister, Tica Pichulik, Stefanie Huhn, Ludmila Vodickova, Katerina Jiraskova, L Courth, Susan M. Farrington, Barbara Pardini, Pavel Vodicka |
---|---|
Přispěvatelé: | Ahmad, Aamir |
Jazyk: | angličtina |
Rok vydání: | 2018 |
Předmět: |
Male
0301 basic medicine Heredity Colorectal cancer Biopsy Gene Expression Pathology and Laboratory Medicine 0302 clinical medicine Risk Factors Animal Cells Medicine and Health Sciences Receptor Immune Response Czech Republic Multidisciplinary Pattern recognition receptor Genomics 3. Good health Gene Expression Regulation Neoplastic Genetic Mapping medicine.anatomical_structure Oncology 030220 oncology & carcinogenesis Medical genetics Medicine Female Cellular Types Anatomy Colorectal Neoplasms Research Article medicine.medical_specialty Colon Immune Cells Science Immunology Rectum NLR Proteins Variant Genotypes Surgical and Invasive Medical Procedures Single-nucleotide polymorphism Biology Polymorphism Single Nucleotide Open Reading Frames 03 medical and health sciences Signs and Symptoms Diagnostic Medicine Genetics Genome-Wide Association Studies medicine Humans Genetic Predisposition to Disease Gene Genetic Association Studies Aged Genetic association Colorectal Cancer Inflammation Genetic Variation Cancers and Neoplasms Biology and Life Sciences Computational Biology Human Genetics Cell Biology Genome Analysis medicine.disease Survival Analysis digestive system diseases Hematopoiesis Gastrointestinal Tract 030104 developmental biology Case-Control Studies Cancer research Digestive System |
Zdroj: | PLoS ONE, Vol 13, Iss 6, p e0199350 (2018) Huhn, S, Da Silva Filho, M I, Sanmuganantham, T, Pichulik, T, Catalano, C, 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, Jansen, L, Hemminki, K, Chang-claude, J, Brenner, H, Hoffmeister, M, Dunlop, M G, Weber, A N R, Försti, A & Ahmad, A (ed.) 2018, ' Coding variants in NOD-like receptors: An association study on risk and survival of colorectal cancer ', PLoS ONE, vol. 13, no. 6, pp. e0199350 . https://doi.org/10.1371/journal.pone.0199350 PLoS ONE |
ISSN: | 1932-6203 |
Popis: | 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. |
Databáze: | OpenAIRE |
Externí odkaz: | |
Nepřihlášeným uživatelům se plný text nezobrazuje | K zobrazení výsledku je třeba se přihlásit. |