APLN, apelin, 8862

N. diseases: 226; N. variants: 11
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3761581
rs3761581
Entrez Id: 8862
Gene Symbol: APLN
APLN
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE In haplotype analyses, low-penetrance haplotype G-A (in order of rs56204867 and rs3761581 from apelin gene) was significantly overrepresented in controls (1.73%) relative to in CAD patients (0.4%) in males (P = 0.047). 23226564 2012
dbSNP: rs56204867
rs56204867
Entrez Id: 8862
Gene Symbol: APLN
APLN
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE In haplotype analyses, low-penetrance haplotype G-A (in order of rs56204867 and rs3761581 from apelin gene) was significantly overrepresented in controls (1.73%) relative to in CAD patients (0.4%) in males (P = 0.047). 23226564 2012
dbSNP: rs755559514
rs755559514
Entrez Id: 8862
Gene Symbol: APLN
APLN
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE We evaluated the possible relationship between the G212A and A445C APJ polymorphisms and coronary artery disease (CAD) in Italian patients and in healthy controls by RFLP-PCR. 22109355 2012
dbSNP: rs755559514
rs755559514
Entrez Id: 8862
Gene Symbol: APLN
APLN
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE Although the functional role of the G212A polymorphism has not yet been identified, it is possible to hypothesize that the presence of the A allele may cause a gain in function of the apelin/APJ system associated with a lower risk of hypertension. 22109355 2012
dbSNP: rs755559514
rs755559514
Entrez Id: 8862
Gene Symbol: APLN
APLN
CUI: C1449563
Disease:
Cardiomyopathy, Familial Idiopathic
0.010 GeneticVariation BEFREE We prospectively evaluated 202 consecutive patients with IDC and 202 matched controls: 90 were screened for APJ gene mutations and all 202 were genotyped for G212A and A445C APJ receptor polymorphisms. 17826642 2007