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Polymorphisms within Autophagy-Related Genes Influence the Risk of Developing Colorectal Cancer: A Meta-Analysis of Four Large Cohorts
J. Sainz, FJ. García-Verdejo, M. Martínez-Bueno, A. Kumar, JM. Sánchez-Maldonado, A. Díez-Villanueva, L. Vodičková, V. Vymetálková, V. Martin Sánchez, MI. Da Silva Filho, B. Sampaio-Marques, S. Brezina, K. Butterbach, R. Ter Horst, M....
Language English Country Switzerland
Document type Journal Article
Grant support
PI12/02688
Instituto de Salud Carlos III
PI17/02256
Instituto de Salud Carlos III
829675
The Austrian Research Promotion Agency (FFG) BRIDGE grant
N/A
The Herzfelder'sche Familienstiftung
Q28/1.LF
PROGRES
006
UNCE/MED
CA17118
COST Action
BT/RLF/Re-entry/38/2017
Ramalingaswami Re-Retry Faculty Fellowship
2017SGR723
The Agency for Management of University and Research Grants (AGAUR) of the Catalan Government
PI14-00613
Instituto de Salud Carlos III
PI17-00092
Instituto de Salud Carlos III
GCTRA18022MORE
The Spanish Association Against Cancer (AECC) Scientific Foundation
NLK
Free Medical Journals
from 2009
PubMed Central
from 2009
Europe PubMed Central
from 2009
ProQuest Central
from 2009-01-01
Open Access Digital Library
from 2009-01-01
Open Access Digital Library
from 2009-01-01
ROAD: Directory of Open Access Scholarly Resources
from 2009
- Publication type
- Journal Article MeSH
The role of genetic variation in autophagy-related genes in modulating autophagy and cancer is poorly understood. Here, we comprehensively investigated the association of autophagy-related variants with colorectal cancer (CRC) risk and provide new insights about the molecular mechanisms underlying the associations. After meta-analysis of the genome-wide association study (GWAS) data from four independent European cohorts (8006 CRC cases and 7070 controls), two loci, DAPK2 (p = 2.19 × 10-5) and ATG5 (p = 6.28 × 10-4) were associated with the risk of CRC. Mechanistically, the DAPK2rs11631973G allele was associated with IL1 β levels after the stimulation of peripheral blood mononuclear cells (PBMCs) with Staphylococcus aureus (p = 0.002), CD24 + CD38 + CD27 + IgM + B cell levels in blood (p = 0.0038) and serum levels of en-RAGE (p = 0.0068). ATG5rs546456T allele was associated with TNF α and IL1 β levels after the stimulation of PBMCs with LPS (p = 0.0088 and p = 0.0076, respectively), CD14+CD16- cell levels in blood (p = 0.0068) and serum levels of CCL19 and cortisol (p = 0.0052 and p = 0.0074, respectively). Interestingly, no association with autophagy flux was observed. These results suggested an effect of the DAPK2 and ATG5 loci in the pathogenesis of CRC, likely through the modulation of host immune responses.
Centre for Individualised Infection Medicine 30625 Hannover Germany
Consortium for Biomedical Research in Epidemiology and Public Health 28029 Madrid Spain
Department of Medical Oncology Complejo Hospitalario de Jaén 23007 Jaén Spain
Department of Medicine University of Granada 18016 Granada Spain
Division of Cancer Epidemiology German Cancer Research Center 69120 Heidelberg Germany
Division of Molecular Genetic Epidemiology German Cancer Research Center 69120 Heidelberg Germany
Division of Pediatric Neurooncology German Cancer Research Center 69120 Heidelberg Germany
Division of Preventive Oncology German Cancer Research Center 69120 Heidelberg Germany
German Cancer Consortium 69120 Heidelberg Germany
Hematology Department Virgen de las Nieves University Hospital 18012 Granada Spain
Hopp Children's Cancer Center 69120 Heidelberg Germany
ICVS 3B's PT Government Associate Laboratory Braga Guimarães Portugal
Institute of Bioinformatics International Technology Park Bangalore Karnataka 560066 India
Instituto de Biomedicina Universidad de León 24071 León Spain
Instituto de Investigación Biosanataria IBs Granada 18012 Granada Spain
Manipal Academy of Higher Education Manipal Karnataka 576104 India
Network Aging Research University of Heidelberg 69115 Heidelberg Germany
References provided by Crossref.org
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