ELN, elastin, 2006

N. diseases: 545; N. variants: 61
Disease: Aortic Stiffness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3178782
Disease: Aortic Stiffness
Aortic Stiffness 		0.060 Biomarker phenotype BEFREE We previously described the elastin haploinsufficient (Eln<sup>+/-</sup> ) mouse as a model with greater aortic stiffness, but with similar cerebral and skeletal muscle feed artery stiffness to wild-type (Eln<sup>+/+</sup> ) mice. 30633428 2019
CUI: C3178782
Disease: Aortic Stiffness
Aortic Stiffness 		0.060 Biomarker phenotype BEFREE Functional studies identified collagen (unlike elastin and the cytoskeleton) as an underlying cause of aortic stiffness in progeroid mice. 30884114 2019
CUI: C3178782
Disease: Aortic Stiffness
Aortic Stiffness 		0.060 Biomarker phenotype BEFREE It occurs as linear mineral deposits along the degraded elastin lamellae and is responsible for increased aortic stiffness and subsequent cardiovascular events. 30796300 2019
CUI: C3178782
Disease: Aortic Stiffness
Aortic Stiffness 		0.060 Biomarker phenotype BEFREE <b>Conclusion:</b> Chronic nicotine exposure induces aortic MMP expression and structural aortic damage (elastin fragmentation), irreversibly increasing aortic stiffness. 30429794 2018
CUI: C3178782
Disease: Aortic Stiffness
Aortic Stiffness 		0.060 Biomarker phenotype BEFREE Recently, binding of complement to elastin and collagen in the aortic wall has been demonstrated, suggesting a role of complement in the development aortic stiffness and atherosclerosis. 23199021 2012
CUI: C3178782
Disease: Aortic Stiffness
Aortic Stiffness 		0.060 GeneticVariation phenotype BEFREE Variants within the ELN gene are associated with increased risk of ISH and aortic stiffness in the Chinese Han population. 19282817 2009