{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T04:18:45Z","timestamp":1760242725999,"version":"build-2065373602"},"reference-count":7,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2016,4,29]],"date-time":"2016-04-29T00:00:00Z","timestamp":1461888000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>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&gt;A. ESRD patients heterozygous for the c.-903T&gt;G polymorphism had no changes in the circulating levels of elastase or other evaluated variables, and those homozygous for the c.-741G&gt;A polymorphism showed significant effects on neutrophils count, as well as in neutrophils\/lymphocytes ratio, which might be associated with an increased inflammatory process.<\/jats:p>","DOI":"10.3390\/genes7050017","type":"journal-article","created":{"date-parts":[[2016,5,2]],"date-time":"2016-05-02T10:17:11Z","timestamp":1462184231000},"page":"17","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Polymorphisms of the ELANE Gene Promoter Region in End-Stage Chronic Kidney Disease Patients"],"prefix":"10.3390","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4847-9869","authenticated-orcid":false,"given":"Rafael","family":"Fernandes","sequence":"first","affiliation":[{"name":"UCIBIO\/REQUIMTE, Laborat\u00f3rio de Bioqu\u00edmica, Departamento de Ci\u00eancias Biol\u00f3gicas, Faculdade de Farm\u00e1cia, Universidade do Porto,4050-313 Porto, Portugal"}]},{"given":"Bruno","family":"Freitas","sequence":"additional","affiliation":[{"name":"UCIBIO\/REQUIMTE, Laborat\u00f3rio de Bioqu\u00edmica, Departamento de Ci\u00eancias Biol\u00f3gicas, Faculdade de Farm\u00e1cia, Universidade do Porto,4050-313 Porto, Portugal"}]},{"given":"Vasco","family":"Miranda","sequence":"additional","affiliation":[{"name":"Frenesius Medical Care, Nephrocare Maia, SA, Rua Altos 70, Maia, 4470-235 Porto, Portugal"}]},{"given":"El\u00edsio","family":"Costa","sequence":"additional","affiliation":[{"name":"UCIBIO\/REQUIMTE, Laborat\u00f3rio de Bioqu\u00edmica, Departamento de Ci\u00eancias Biol\u00f3gicas, Faculdade de Farm\u00e1cia, Universidade do Porto,4050-313 Porto, Portugal"}]},{"given":"Alice","family":"Santos-Silva","sequence":"additional","affiliation":[{"name":"UCIBIO\/REQUIMTE, Laborat\u00f3rio de Bioqu\u00edmica, Departamento de Ci\u00eancias Biol\u00f3gicas, Faculdade de Farm\u00e1cia, Universidade do Porto,4050-313 Porto, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3571-2513","authenticated-orcid":false,"given":"Elsa","family":"Bronze-da-Rocha","sequence":"additional","affiliation":[{"name":"UCIBIO\/REQUIMTE, Laborat\u00f3rio de Bioqu\u00edmica, Departamento de Ci\u00eancias Biol\u00f3gicas, Faculdade de Farm\u00e1cia, Universidade do Porto,4050-313 Porto, Portugal"}]}],"member":"1968","published-online":{"date-parts":[[2016,4,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"935","DOI":"10.1159\/000142147","article-title":"Neutrophil activation and resistance to recombinant human erythropoietin therapy in hemodialysis patients","volume":"28","author":"Costa","year":"2008","journal-title":"Am. J. Nephrol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1038\/kisup.2011.7","article-title":"Cardiovascular and non-cardiovascular mortality in dialysis patients: Where is the link?","volume":"1","author":"Jager","year":"2011","journal-title":"Kidney Int. Suppl."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1111\/j.1542-4758.2010.00450.x","article-title":"Neutrophil and monocyte activation in chronic kidney disease patients under hemodialysis and its relationship with resistance to recombinant human erythropoietin and to the hemodialysis procedure","volume":"14","author":"Pereira","year":"2010","journal-title":"Hemodial. Int."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1016\/j.lungcan.2004.11.022","article-title":"Polymorphisms in the promoter region of neutrophil elastase gene and lung cancer risk","volume":"48","author":"Park","year":"2005","journal-title":"Lung Cancer"},{"key":"ref_5","first-page":"1115","article-title":"Polymorphisms in the promoter region of the neutrophil elastase gene are associated with lung cancer development","volume":"8","author":"Taniguchi","year":"2002","journal-title":"Clin. Cancer Res."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1007\/s00408-014-9596-3","article-title":"Neutrophil elastase gene polymorphisms: Modulators of response to therapy in childhood bronchiectasis?","volume":"192","author":"Nikolic","year":"2014","journal-title":"Lung"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1392","DOI":"10.3109\/0886022X.2013.828267","article-title":"Body mass index and resistance to recombinant human erythropoietin therapy in maintenance hemodialysis patients","volume":"35","author":"Ribeiro","year":"2013","journal-title":"Renal Fail."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/7\/5\/17\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T19:23:06Z","timestamp":1760210586000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/7\/5\/17"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,4,29]]},"references-count":7,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2016,5]]}},"alternative-id":["genes7050017"],"URL":"https:\/\/doi.org\/10.3390\/genes7050017","relation":{},"ISSN":["2073-4425"],"issn-type":[{"type":"electronic","value":"2073-4425"}],"subject":[],"published":{"date-parts":[[2016,4,29]]}}}