ACE, angiotensin I converting enzyme, 1636

N. diseases: 1082; N. variants: 82
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4311
rs4311
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0002395
Disease:
Alzheimer's Disease
0.700 GeneticVariation GWASCAT GWAS on family history of Alzheimer's disease. 29777097 2018
dbSNP: rs1799752
rs1799752
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0002395
Disease:
Alzheimer's Disease
0.030 GeneticVariation BEFREE We measured ACE-2 activity by fluorogenic peptide substrate assay in mid-frontal cortex (Brodmann area 9) in a cohort of AD (n = 90) and age-matched non-demented controls (n = 59) for which we have previous data on ACE-1 activity, amyloid β (Aβ) level and tau pathology, as well as known ACE1 (rs1799752) indel polymorphism, apolipoprotein E (APOE) genotype, and cerebral amyloid angiopathy severity scores. 27884212 2016
dbSNP: rs1799752
rs1799752
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0002395
Disease:
Alzheimer's Disease
0.030 GeneticVariation BEFREE This study is aimed to clarify the association between ACE insertion (I)/deletion (D) polymorphism (rs1799752) and AD. 25596842 2015
dbSNP: rs1799752
rs1799752
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0002395
Disease:
Alzheimer's Disease
0.030 GeneticVariation BEFREE In a case-control study including 376 late-onset AD patients and 444 control subjects, we showed a statistically significant effect on the risk of AD of tw</span>o variants (rs4343 and rs1799752) and of the haplotype ATI (rs4343/rs4291/rs1799752) in subjects aged 73 years and above. 19539712 2009
dbSNP: rs4343
rs4343
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0002395
Disease:
Alzheimer's Disease
0.030 GeneticVariation BEFREE In a case-control study including 376 late-onset AD patients and 444 control subjects, we showed a statistically significant effect on the risk of AD of two variants (rs4343 and rs1799752) and of the haplotype ATI (rs4343/rs4291/rs1799752) in subjects aged 73 years and above. 19539712 2009
dbSNP: rs4343
rs4343
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0002395
Disease:
Alzheimer's Disease
0.030 GeneticVariation BEFREE Other variants, such as SNPs rs4291A>T located -240bp from the initiation codon, and rs4343G>A encoding a silent mutation in exon 16, were inconsistently associated with the risk of AD. 19539712 2009
dbSNP: rs4343
rs4343
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0002395
Disease:
Alzheimer's Disease
0.030 GeneticVariation BEFREE The purpose of this study was to examine the impact of two polymorphisms (rs4291A>T and rs4343G>A) in the ACE gene on the risk of Alzheimer's disease (AD), using a population-based cohort of 9294 subjects selected from the electoral rolls of three French cities (the Three-City Study). 18431000 2008
dbSNP: rs4343
rs4343
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0002395
Disease:
Alzheimer's Disease
0.030 GeneticVariation BEFREE These results suggest that a variant in close proximity to rs4343 and rs4351 modulates susceptibility to AD in this community. 16642441 2006
dbSNP: rs4291
rs4291
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0002395
Disease:
Alzheimer's Disease
0.020 GeneticVariation BEFREE Other variants, such as SNPs rs4291A>T located -240bp from the initiation codon, and rs4343G>A encoding a silent mutation in exon 16, were inconsistently associated with the risk of AD. 19539712 2009
dbSNP: rs4291
rs4291
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0002395
Disease:
Alzheimer's Disease
0.020 GeneticVariation BEFREE After adjustment for confounding variables, the risk of developing AD was similar whatever the genotype (rs4291 AT vs TT: OR=0.90, p=0.65; AA vs TT: OR=1.05, p= 0.84; rs4343 GA vs GG: OR=1.15, p= 0.48; AA vs GG: OR=1.25, p= 0.37). 18431000 2008
dbSNP: rs4291
rs4291
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0002395
Disease:
Alzheimer's Disease
0.020 GeneticVariation BEFREE The purpose of this study was to examine the impact of two polymorphisms (rs4291A>T and rs4343G>A) in the ACE gene on the risk of Alzheimer's disease (AD), using a population-based cohort of 9294 subjects selected from the electoral rolls of three French cities (the Three-City Study). 18431000 2008
dbSNP: rs143830698
rs143830698
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0002395
Disease:
Alzheimer's Disease
0.010 GeneticVariation BEFREE To investigate the possible relationship between genetic risk factors and depression in AD, we assessed genetic polymorphisms reported to be associated with depression (MAOA VNTR, ACE 288bp Insertion/ Deletion, 5HTTLPR, COMT Val158Met, BDNF Val66Met, TPH1 A218C, HTR2A T102C, P2RX7 Q460R, FKBP5 rs1360780 and CRHR1 rs242941) in a cross-sectional study on 246 AD patients with or without clinically significant major depressive disorder (MDD) according to DSM-IV. 23157339 2013
dbSNP: rs769397961
rs769397961
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0002395
Disease:
Alzheimer's Disease
0.010 GeneticVariation BEFREE To investigate the possible relationship between genetic risk factors and depression in AD, we assessed genetic polymorphisms reported to be associated with depression (MAOA VNTR, ACE 288bp Insertion/ Deletion, 5HTTLPR, COMT Val158Met, BDNF Val66Met, TPH1 A218C, HTR2A T102C, P2RX7 Q460R, FKBP5 rs1360780 and CRHR1 rs242941) in a cross-sectional study on 246 AD patients with or without clinically significant major depressive disorder (MDD) according to DSM-IV. 23157339 2013
dbSNP: rs776943620
rs776943620
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0002395
Disease:
Alzheimer's Disease
0.010 GeneticVariation BEFREE To investigate the possible relationship between genetic risk factors and depression in AD, we assessed genetic polymorphisms reported to be associated with depression (MAOA VNTR, ACE 288bp Insertion/ Deletion, 5HTTLPR, COMT Val158Met, BDNF Val66Met, TPH1 A218C, HTR2A T102C, P2RX7 Q460R, FKBP5 rs1360780 and CRHR1 rs242941) in a cross-sectional study on 246 AD patients with or without clinically significant major depressive disorder (MDD) according to DSM-IV. 23157339 2013
dbSNP: rs4351
rs4351
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0002395
Disease:
Alzheimer's Disease
0.010 GeneticVariation BEFREE These results suggest that a variant in close proximity to rs4343 and rs4351 modulates susceptibility to AD in this community. 16642441 2006