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The circulating levels of the inflammatory biomarkers interleukin 6 (IL6) and pentraxin 3 (PTX3) are enhanced in CKD patients, and are associated with the progression of the disease and with higher risk for cardiovascular events, the major cause of death in CKD patients. Our aim was to study how specific polymorphisms of IL6 and PTX3 encoding genes affect the inflammatory response and outcome of end-stage renal disease (ESRD) patients on dialysis. Methodology included the analysis of two single nucleotide polymorphisms (SNP), namely the\n                    <jats:italic>IL6<\/jats:italic>\n                    (rs1800795) polymorphism in the promoter region (-174G\u2009&gt;\u2009C), and the\n                    <jats:italic>PTX3<\/jats:italic>\n                    (rs2305619) polymorphism in the intron 1 (+\u2009281A\u2009&gt;\u2009G), which\u00a0were analyzed in ESRD patients on dialysis and in a group of heathy individuals. The allelic frequencies, genotype distribution and their association with circulating levels of the inflammatory markers C-reactive protein (CRP), IL6, growth differentiation factor 15 (GDF15) and PTX3, were determined in ESRD patients. Events of death were recorded along one year, to assess the association of the studied SNPs with all-cause mortality and the inflammatory biomarkers, in ESRD patients. Results showed that the allelic frequencies and genotype distribution for\n                    <jats:italic>IL6<\/jats:italic>\n                    and\n                    <jats:italic>PTX3<\/jats:italic>\n                    SNPs in the control group and ESRD patients were similar and in agreement with other European reports. For the\n                    <jats:italic>IL6<\/jats:italic>\n                    polymorphism, we found a trend towards higher levels of high-sensitivity (hs) CRP, IL6 and PTX3 in the homozygous genotypes; the CC genotype also showed the highest levels of GDF15. The mortality rate after the 1-year follow-up was 10.4%. The CC genotype (\n                    <jats:italic>IL6<\/jats:italic>\n                    SNP) was associated to a higher risk of mortality\u00a0and deceased patients carrying this genotype also showed the highest levels of hsCRP. Regarding the studied\n                    <jats:italic>PTX3<\/jats:italic>\n                    SNP, the AA genotype was linked to an enhanced inflammatory response, showing the highest values of hsCRP and IL6. Nevertheless, this genotype had no significant impact on the mortality rate. In conclusion, both studied SNPs seem to modulate the inflammatory response in ESRD and may, therefore, be determinant on disease progression and patients\u2019 outcome. Our data also highlights the importance of research on genetic variants that, although less frequent, may have significant biological value.\n                  <\/jats:p>","DOI":"10.1038\/s41598-021-94075-x","type":"journal-article","created":{"date-parts":[[2021,7,20]],"date-time":"2021-07-20T06:26:57Z","timestamp":1626762417000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Interleukin 6 (rs1800795) and pentraxin 3 (rs2305619) polymorphisms-association with inflammation and all-cause mortality in end-stage-renal disease patients on dialysis"],"prefix":"10.1038","volume":"11","author":[{"given":"Susana","family":"Rocha","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Jo\u00e3o","family":"Valente","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susana","family":"Coimbra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Catarino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Petronila","family":"Rocha-Pereira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 Gerardo","family":"Oliveira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9","family":"Madureira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jo\u00e3o Carlos","family":"Fernandes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"do Sameiro-Faria","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vasco","family":"Miranda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lu\u00eds","family":"Belo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alice","family":"Santos-Silva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elsa","family":"Bronze-da-Rocha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,7,20]]},"reference":[{"key":"94075_CR1","doi-asserted-by":"publisher","first-page":"144","DOI":"10.1038\/s41598-019-56695-2","volume":"10","author":"Z Corredor","year":"2020","unstructured":"Corredor, Z. et al. 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