title: Polymorphisms of the ELANE Gene Promoter Region in End-Stage Chronic Kidney Disease Patients.
abstract: End-stage renal disease (ESRD) patients have a high mortality rate that exceeds that of non-ESRD population. The hemodialysis procedure induces neutrophil activation and elastase release, which might have a role in the inflammatory process and in the development of oxidative stress. The ELANE gene encodes the neutrophil elastase. We analyzed the effect of ELANE promoter region polymorphisms and its relation with the circulating levels of elastase, as well as several clinical, biochemical and inflammatory markers in 123 ESRD patients. We found two duplications in heterozygosity in the promoter region and a new polymorphism, the c.-801G>A. ESRD patients heterozygous for the c.-903T>G polymorphism had no changes in the circulating levels of elastase or other evaluated variables, and those homozygous for the c.-741G>A polymorphism showed significant effects on neutrophils count, as well as in neutrophils/lymphocytes ratio, which might be associated with an increased inflammatory process.
authors.affiliation: UCIBIO/REQUIMTE, Laboratório de Bioquímica, Departamento de Ciências Biológicas, Faculdade de Farmácia, Universidade do Porto,4050-313 Porto, Portugal. rqf@ua.pt.
authors.forename: Rafael
authors.initials: R
authors.lastname: Fernandes
authors.affiliation: UCIBIO/REQUIMTE, Laboratório de Bioquímica, Departamento de Ciências Biológicas, Faculdade de Farmácia, Universidade do Porto,4050-313 Porto, Portugal. brunofreitas2006@hotmail.com.
authors.forename: Bruno
authors.initials: B
authors.lastname: Freitas
authors.affiliation: Frenesius Medical Care, Nephrocare Maia, SA, Rua Altos 70, Maia, 4470-235 Porto, Portugal. mail@vascomiranda.com.
authors.forename: Vasco
authors.initials: V
authors.lastname: Miranda
authors.affiliation: UCIBIO/REQUIMTE, Laboratório de Bioquímica, Departamento de Ciências Biológicas, Faculdade de Farmácia, Universidade do Porto,4050-313 Porto, Portugal. emcosta@ff.up.pt.
authors.forename: Elísio
authors.initials: E
authors.lastname: Costa
authors.affiliation: UCIBIO/REQUIMTE, Laboratório de Bioquímica, Departamento de Ciências Biológicas, Faculdade de Farmácia, Universidade do Porto,4050-313 Porto, Portugal. assilva@ff.up.pt.
authors.forename: Alice
authors.initials: A
authors.lastname: Santos-Silva
authors.affiliation: UCIBIO/REQUIMTE, Laboratório de Bioquímica, Departamento de Ciências Biológicas, Faculdade de Farmácia, Universidade do Porto,4050-313 Porto, Portugal. elsa.rocha@ff.up.pt.
authors.forename: Elsa
authors.initials: E
authors.lastname: Bronze-da-Rocha
keywords: duplication; elastase; end-stage renal disease; single nucleotide polymorphism