|(A;A)||2||ACE I/I genotype|
|(A;G)||2||ACE I/D genotype|
|(G;G)||2||ACE D/D genotype|
See ACE for a more complete description of the history of the ACI insertion/deletion (I/D) allele and various associations reported over the years.
Perhaps the best documented correlation of a linked SNP to the presence or absence of the Alu insertion represented by the I/D ACE polymorphism is rs4343. More specifically: the rs4343(A) allele is associated with the ACE-I (insertion) allele, and the rs4343(G) allele is associated with the ACE-D allele.[PMID 18057531]PMID 19108684] A haplotype of rs4311, rs4343, rs699 increases risk of diabetic nephropathy 4x.
[PMID 19956428] Angiotensin-converting enzyme levels and activity in Alzheimer's disease: differences in brain and CSF ACE and association with ACE1 genotypes
|Trait||Angiotensin-converting enzyme activity|
|Title||A genome-wide association study identifies new loci for ACE activity: potential implications for response to ACE inhibitor|
|Odds Ratio||16.20 [NR] % variance|
[PMID 20639399] Association between angiotensin converting enzyme G2350A polymorphism and hypertension risk: a meta-analysis
[PMID 22508051] Renin-Angiotensin-aldosterone system gene polymorphisms and coronary artery disease: detection of gene-gene and gene-environment interactions
[PMID 14986105] Common variants of ACE contribute to variable age-at-onset of Alzheimer's disease.
[PMID 17173513] No association between variants in the ACE and angiotensin II receptor 1 genes and acute mountain sickness in Nepalese pilgrims to the Janai Purnima Festival at 4380 m.
[PMID 17460369] Angiotensin-converting enzyme gene 2350 G/A polymorphism is associated with left ventricular hypertrophy but not essential hypertension.
[PMID 18076107] Confronting complexity in late-onset Alzheimer disease: application of two-stage analysis approach addressing heterogeneity and epistasis.
[PMID 18194558] A hierarchical and modular approach to the discovery of robust associations in genome-wide association studies from pooled DNA samples.
[PMID 18431000] Haplotypes across ACE and the risk of Alzheimer's disease: the three-city study.
[PMID 18622756] An alternative method for genotyping of the ACE I/D polymorphism.
[PMID 18637188] RAS gene polymorphisms, classical risk factors and the advent of coronary artery disease in the Portuguese population.
[PMID 18698231] Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues.
[PMID 18805939] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.
[PMID 18813964] Alzheimer's disease risk variants show association with cerebrospinal fluid amyloid beta.
[PMID 19105203] An association analysis of Alzheimer disease candidate genes detects an ancestral risk haplotype clade in ACE and putative multilocus association between ACE, A2M, and LRRTM3.
[PMID 19291311] ACE I/D genotype, adiposity, and blood pressure in children.
[PMID 19539712] An age effect on the association of common variants of ACE with Alzheimer's disease.
[PMID 20486282] Genetic variants in the renin-angiotensin-aldosterone system and salt sensitivity of blood pressure.
[PMID 20565774] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
[PMID 20625269] Amyloid-beta-Related Genes SORL1 and ACE are Genetically Associated With Risk for Late-onset Alzheimer Disease in the Chinese Population.
[PMID 20682755] A pilot study of gene/gene and gene/environment interactions in Alzheimer disease.
[PMID 21258267] Angiotensin-converting enzyme tag single nucleotide polymorphisms in patients with intracerebral hemorrhage.
[PMID 21297258] A multi-center study of ACE and the risk of late-onset Alzheimer's disease.
[PMID 21709586] Common variants of the ACE gene and aneurysmal subarachnoid hemorrhage in a Danish population: a case-control study.
[PMID 21832968] Pharmacogenetic predictors of angiotensin-converting enzyme inhibitor-induced cough: the role of ACE, ABO, and BDKRB2 genes.
[PMID 22388798] Gene panels to help identify subgroups at high and low risk of coronary heart disease among those randomized to antihypertensive treatment: the GenHAT study.
|qualified_impact||Insufficiently evaluated pharmacogenetic|
[PMID 23065222] Association of angiotensin-converting enzyme gene 2350 G/A polymorphism with diabetic retinopathy in Chinese Han population.
[PMID 24851853] Angiotensin-converting enzyme gene polymorphisms and risk for sporadic Alzheimer's disease: a meta-analysis
[PMID 24860821] Gender Specific Association of RAS Gene Polymorphism with Essential Hypertension: A Case-Control Study
|Trait||Serum metabolite levels|
|Title||Genetic determinants influencing human serum metabolome among African Americans.|
|Odds Ratio||.22 [NR] unit increase|
|Trait||Blood metabolite ratios|
|Title||An atlas of genetic influences on human blood metabolites.|
|Odds Ratio||.06 [0.049-0.069] unit decrease|
[PMID 26242120] [Relevant Research on ACE Gene Single Nucleotide Polymorphisms and Premature Coronary Heart Disease Patients with Blood Stasis Syndrome]
[PMID 26403748] [Association between angiotensin-converting enzyme gene polymorphism and Alzheimer's disease]
[PMID 24722536] Relationship of renin-angiotensin-aldosterone system polymorphisms and phenotypes to mortality in Chinese coronary atherosclerosis patients
[PMID 26823847] Association of angiotensin-converting enzyme gene polymorphisms with Crohn's disease in a Chinese Han population.
|Disease||not specified Renal dysplasia|
|CLNDBN||not specified Renal dysplasia|
[PMID 28271690] Genetic Variation in the Renin-Angiotensin System and Diabetic Nephropathy in the Tunisian Population.