@misc{10481/63276,
year = {2020},
url = {http://hdl.handle.net/10481/63276},
abstract = {The purpose of this study was to conduct a two-stage case control association study including 654 acute myeloid
leukaemia (AML) patients and 3477 controls ascertained through the NuCLEAR consortium to evaluate the effect of 27
immune-related single nucleotide polymorphisms (SNPs) on AML risk. In a pooled analysis of cohort studies, we found
that carriers of the IL13rs1295686A/A genotype had an increased risk of AML (PCorr = 0.0144) whereas carriers of the
VEGFArs25648T allele had a decreased risk of developing the disease (PCorr = 0.00086). In addition, we found an
association of the IL8rs2227307 SNP with a decreased risk of developing AML that remained marginally significant after
multiple testing (PCorr = 0.072). Functional experiments suggested that the effect of the IL13rs1295686 SNP on AML risk
might be explained by its role in regulating IL1Ra secretion that modulates AML blast proliferation. Likewise, the
protective effect of the IL8rs2227307 SNP might be mediated by TLR2-mediated immune responses that affect AML blast
viability, proliferation and chemorresistance. Despite the potential interest of these results, additional functional studies
are still warranted to unravel the mechanisms by which these variants modulate the risk of AML. These findings
suggested that IL13, VEGFA and IL8 SNPs play a role in modulating AML risk.},
organization = {Astella Pharma Inc.},
organization = {Instituto de Salud Carlos III

PI12/02688
PI17/02276},
organization = {Northern Portugal Regional Operational Programme (NORTE 2020), under the Portugal 2020 Partnership Agreement, through the European Regional Development Fund (FEDER) 	
NORTE-01-0145-FEDER-000013},
organization = {Portuguese Foundation for Science and Technology

CEECIND/04601/2017
CEECIND/03628/2017},
organization = {Astellas Pharmaceuticals},
publisher = {Springer Nature},
title = {Host immune genetic variations influence the risk of developing acute myeloid leukaemia: results from the NuCLEAR consortium},
doi = {10.1038/s41408-020-00341-y},
author = {Sánchez Maldonado, José and Sáinz Pérez, Juan},
}