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

• Type: Article in International Scientific Journal
• Date: 2016

Authors

Fernandes, R (Author) Other; Freitas, B (Author) Other; Miranda, V (Author) Other; Costa, E (Author) FFUP; Alice Santos Silva (Author) FFUP; Bronze da Rocha, E (Author) FFUP

Journal

Title: Genes

Vol. 7

Final page: 17

ISSN: 2073-4425

Publisher: MDPI

Indexing

ISI Web of Knowledge - 2 Citations

Scopus - 2 Citations

Other information

Authenticus ID: P-00K-HWM

DOI: 10.3390/genes7050017

Abstract (EN): 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 5