Influence of genetic variants on inflammatory response and on mortality risk in chronic kidney disease patients

Principal Investigator: 
Susana Coimbra
Leader Institution: 
TOXRUN-CESPU
Research Team: 
Susana Coimbra, Alice Santos-Silva, Cristina Catarino, Elsa Rocha, Luís Belo, Susana Rocha
Funding entity: 
CESPU
Budget: 
5.500€
Period covered: 
01.09.2022 - 31.08.2023
Abstract: 

Chronic kidney disease (CKD) associates with high morbimortality, particularly in patients on hemodialysis (HD) that frequently die from cardiovascular (CV) events. Enhanced inflammation is a risk factor for CV events and mortality in CKD. Genes coding for the synthesis of inflammatory markers and their genetic variants are associated with kidney (dys)function and with higher CKD prevalence. However, the genetic contribution for this susceptibility remains poorly studied and must be clarified. Our goal is to  determine how specific single nucleotide polymorphisms (SNPs) affect the inflammatory response and outcome of HD patients. We intend to perform a retrospective study, analyzing stored DNA samples from 289 patients (from 5 HD units in North Region of Portugal) that were followed during 2 years, which clinical/analytical evaluations were performed and the events of death recorded. We selected SNPs in genes coding for IL6 and PTX3 known to associate with risk of CVD events. We will investigate the association of these SNPs with all-cause mortality along two-years in HD patients and the genotype influence on previously measured circulating inflammatory biomarkers. 

Program: 
GI2-CESPU-2022