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Eller, P; Hochegger, K; Feuchtner, GM; Zitt, E; Tancevski, I; Ritsch, A; Kronenberg, F; Rosenkranz, AR; Patsch, JR; Mayer, G.
Impact of ENPP1 genotype on arterial calcification in patients with end-stage renal failure.
Nephrol Dial Transplant. 2008; 23(1):321-327 Doi: 10.1093/ndt/gfm566 [OPEN ACCESS]
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Führende Autor*innen der Med Uni Graz
Eller Philipp
Co-Autor*innen der Med Uni Graz
Eller Kathrin
Rosenkranz Alexander
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Abstract:
Background. Ectonucleotide pyrophosphatase/phosphodiesterase-1 (ENPP1) generates inorganic pyrophosphate, a solute that serves as an essential physiological inhibitor of calcification. Inactivating mutations of ENPP1 are associated with generalized arterial calcification of infancy. We hypothesized the ENPP1 K121Q variant to be associated with increased vascular calcification in patients with end-stage renal failure. Subjects and methods. We recruited 79 patients with end-stage renal failure undergoing dialysis treatment and genotyped them for the ENPP1 K121Q polymorphism. Next, we matched to each patient with ENPP1 121KQ genotype (n = 15) a respective control with ENPP1 121KK genotype by gender, age, diabetes and duration of dialysis treatment. The matching ratio was 1 : 1. Severity of coronary calcification was quantified by computed tomography, and aortic stiffness was measured by pulse-wave analysis. Results. Patients with ENPP1 121KQ genotype had a significantly higher coronary calcium score (1385 vs 94; n = 30; P = 0.033), and also a higher aortic pulse-wave velocity when compared to matched controls with ENPP1 121KK genotype (13.69 m/s vs 9.37 m/s; P = 0.003). Conclusions. Taken together, our study suggests a potential role of the ENPP1 K121Q polymorphism in arterial calcification of patients with end-stage renal failure. Patients heterozygous for the ENPP1 K121Q polymorphism have higher coronary calcification scores and increased aortic stiffness, and may benefit from more intense treatment in order to prevent progression of arterial calcification.
Find related publications in this database (using NLM MeSH Indexing)
Aged -
Calcinosis - etiology Calcinosis - genetics
Coronary Artery Disease - etiology Coronary Artery Disease - genetics
Female -
Genotype -
Humans -
Kidney Failure, Chronic - complications Kidney Failure, Chronic - genetics
Male -
Middle Aged -
Phosphoric Diester Hydrolases - genetics
Pyrophosphatases - genetics

Find related publications in this database (Keywords)
aortic stiffness
arterial calcification
insulin resistance
mineral metabolism
pulse-wave velocity
pyrophosphate
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