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Single Nucleotide Variants in the Protein C Pathway and Mortality in Dialysis Patients

Please always quote using this URN: urn:nbn:de:bvb:20-opus-116265
  • Background: The protein C pathway plays an important role in the maintenance of endothelial barrier function and in the inflammatory and coagulant processes that are characteristic of patients on dialysis. We investigated whether common single nucleotide variants (SNV) in genes encoding protein C pathway components were associated with all-cause 5 years mortality risk in dialysis patients. Methods: Single nucleotides variants in the factor V gene (F5 rs6025; factor V Leiden), the thrombomodulin gene (THBD rs1042580), the protein C gene (PROCBackground: The protein C pathway plays an important role in the maintenance of endothelial barrier function and in the inflammatory and coagulant processes that are characteristic of patients on dialysis. We investigated whether common single nucleotide variants (SNV) in genes encoding protein C pathway components were associated with all-cause 5 years mortality risk in dialysis patients. Methods: Single nucleotides variants in the factor V gene (F5 rs6025; factor V Leiden), the thrombomodulin gene (THBD rs1042580), the protein C gene (PROC rs1799808 and 1799809) and the endothelial protein C receptor gene (PROCR rs867186, rs2069951, and rs2069952) were genotyped in 1070 dialysis patients from the NEtherlands COoperative Study on the Adequacy of Dialysis (NECOSAD) cohort) and in 1243 dialysis patients from the German 4D cohort. Results: Factor V Leiden was associated with a 1.5-fold (95% CI 1.1-1.9) increased 5-year all-cause mortality risk and carriers of the AG/GG genotypes of the PROC rs1799809 had a 1.2-fold (95% CI 1.0-1.4) increased 5-year all-cause mortality risk. The other SNVs in THBD, PROC, and PROCR were not associated with 5-years mortality. Conclusion: Our study suggests that factor V Leiden and PROC rs1799809 contributes to an increased mortality risk in dialysis patients.show moreshow less

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Metadaten
Author: Gurbey Ocak, Christiane Drechsler, Carla Y. Vossen, Hans L. Vos, Frits R. Rosendaal, Pieter H. Reitsma, Michael M. Hoffmann, Winfried März, Willem H. Ouwehand, Raymond T. Krediet, Elisabeth W. Boeschoten, Frido W. Dekker, Christoph Wanner, Marion Verduijn
URN:urn:nbn:de:bvb:20-opus-116265
Document Type:Journal article
Faculties:Medizinische Fakultät / Institut für Klinische Epidemiologie und Biometrie
Language:English
Parent Title (English):PLOS ONE
ISSN:1932-6203
Year of Completion:2014
Volume:9
Issue:5
Pagenumber:e97251
Source:PLoS ONE 9(5): e97251. doi:10.1371/journal.pone.0097251
DOI:https://doi.org/10.1371/journal.pone.0097251
Pubmed Id:http://www.ncbi.nlm.nih.gov/pubmed?term=24816905
Dewey Decimal Classification:6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit
Tag:activated receptor-1; factor-V-Leiden; gene polymorphism; human brian endothelium; ischemic stroke; organ dysfunktion; renal disease; severe sepsis; vascular access; venous thrombosis
Release Date:2015/07/21
Licence (German):License LogoCC BY: Creative-Commons-Lizenz: Namensnennung