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Genes 2016, 7(5), 17;

Polymorphisms of the ELANE Gene Promoter Region in End-Stage Chronic Kidney Disease Patients

UCIBIO/REQUIMTE, Laboratório de Bioquímica, Departamento de Ciências Biológicas, Faculdade de Farmácia, Universidade do Porto,4050-313 Porto, Portugal
Frenesius Medical Care, Nephrocare Maia, SA, Rua Altos 70, Maia, 4470-235 Porto, Portugal
Author to whom correspondence should be addressed.
Academic Editor: Selvarangan Ponnazhagan
Received: 8 February 2016 / Revised: 8 April 2016 / Accepted: 25 April 2016 / Published: 29 April 2016
(This article belongs to the Section Human Genomics and Genetic Diseases)
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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. View Full-Text
Keywords: elastase; end-stage renal disease; single nucleotide polymorphism; duplication elastase; end-stage renal disease; single nucleotide polymorphism; duplication

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Fernandes, R.; Freitas, B.; Miranda, V.; Costa, E.; Santos-Silva, A.; Bronze-da-Rocha, E. Polymorphisms of the ELANE Gene Promoter Region in End-Stage Chronic Kidney Disease Patients. Genes 2016, 7, 17.

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