ELN, elastin, 2006

N. diseases: 545; N. variants: 61
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.500 Biomarker group BEFREE Insufficient elastin synthesis leads to vascular complications and arterial hypertension in children with Williams-Beuren syndrome. 31138170 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.500 Biomarker group BEFREE This study demonstrates the pro-stiffening effect of salt in addition to hypertension; it shows that only the abdominal aorta presents a specific pressure-independent stiffening, in which elastin disarray is likely a key mechanism. 29886482 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.500 Biomarker group BEFREE Using the elastin heterozygous (Eln+/-) mouse model, we tested whether renal dysfunction due to elastin deficiency occurs independently of and precedes the development of hypertension. 28754555 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.500 Biomarker group BEFREE Elastin deficiency in aging and disease is linked to increased vascular stiffness and hypertension, which are both associated with chronic kidney disease.Owens et al. show that alterations in renal arteries and kidney structure precede or are independent of hypertension in elastin haploinsufficient mice. 29055422 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.500 Biomarker group BEFREE We identify LOX as a novel source of vascular reactive oxygen species and a new pathway involved in vascular stiffness and elastin remodeling in hypertension. 28010122 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.500 Biomarker group BEFREE The autopsy disclosed pulmonary vascular dysplasia affecting small arteries and veins associated with abnormal elastin distribution in tortuous dilated arteries and veins, with nonuniform wall thickness and semiobstructive lesions at artery branch points typical of early pulmonary hypertensive vascular disease. 25133308 2015
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.500 Biomarker group BEFREE Elastin insufficiency leads to the cardiovascular hallmarks of this condition, namely focal stenosis and hypertension. 24126171 2014
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.500 Biomarker group BEFREE Elastin in large artery stiffness and hypertension. 22290157 2012
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.500 Biomarker group BEFREE A hallmark feature of Williams-Beuren Syndrome (WBS) is a generalized arteriopathy due to elastin deficiency, presenting as stenoses of medium and large arteries and leading to hypertension and other cardiovascular complications. 22319452 2012
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.500 Biomarker group BEFREE Bioinformatic analysis of the quantitative trait locus peaks revealed several interesting candidates, including Ren1, Ncf1, and Nos1; genes whose functions are unrelated to elastic fiber assembly, but whose effects may synergize with elastin insufficiency to predispose to hypertension and stiffer blood vessels. 22049077 2011
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.500 GeneticVariation group BEFREE Physiological and morphological comparisons correlate elastin haploinsufficiency with increased blood pressure and vessel length and tortuosity in dHet mice, and fibrillin-1 haploinsufficiency with increased aortic diameter in the same mutant animals. 19850904 2009
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.500 AlteredExpression group BEFREE Human elastin protein interacts with mouse elastin to form functional elastic fibers and when expressed in the elastin haploinsufficient background reverses the hypertension and cardiovascular changes associated with that phenotype. 17626896 2007
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.500 Biomarker group CTD_human The aims of this study were: 1) to determine serum cobalt concentrations in children with hypertension; and 2) to study the correlation between serum cobalt and some biological markers of the extracellular matrix of the vascular wall, i.e., anti-elastin and anti-collagen type IV antibodies. 17039479 2007
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.500 GeneticVariation group BEFREE Haploinsufficiency at the elastin gene is known to lead to the vascular stenoses in WBS and is also thought to predispose to hypertension, present in approximately 50% of patients. 16532385 2006
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.500 GeneticVariation group BEFREE Associations of the ELN 3'-untranslated region (-/A) polymorphism with hypertension and pulse wave velocity were reconfirmed in another set of the study population. 16982955 2006
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.500 GeneticVariation group BEFREE Systemic vascular alterations caused by deletion of the elastin gene may occur early in individuals with Williams-Beuren syndrome, leading to the clinical manifestation of systemic arterial hypertension refractory to drug treatment. 12219191 2002
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.500 Biomarker group BEFREE Elastin synthesis was studied in blood vessels from newborn calves with severe pulmonary hypertension induced by alveolar hypoxia in order to investigate the cellular stimuli that elicit changes in pulmonary arterial connective tissue production. 3603030 1987
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.500 Biomarker group HPO