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
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