rs4343
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 2 | ACE I/I genotype |
| (A;G) | 2 | ACE I/D genotype |
| (G;G) | 2 | ACE D/D genotype |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 17 |
| Position | 63488670 |
| Gene | ACE |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4343 |
| dbSNP (classic) | rs4343 |
| ClinGen | rs4343 |
| ebi | rs4343 |
| HLI | rs4343 |
| Exac | rs4343 |
| Gnomad | rs4343 |
| Varsome | rs4343 |
| LitVar | rs4343 |
| Map | rs4343 |
| PheGenI | rs4343 |
| Biobank | rs4343 |
| 1000 genomes | rs4343 |
| hgdp | rs4343 |
| ensembl | rs4343 |
| geneview | rs4343 |
| scholar | rs4343 |
| rs4343 | |
| pharmgkb | rs4343 |
| gwascentral | rs4343 |
| openSNP | rs4343 |
| 23andMe | rs4343 |
| SNPshot | rs4343 |
| SNPdbe | rs4343 |
| MSV3d | rs4343 |
| GWAS Ctlg | rs4343 |
| GMAF | 0.3815 |
| Max Magnitude | 2 |
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
]
Another SNP in linkage disequilibrium with the ACE I/D polymorphism is rs4341.[PMID 18622756],[PMID 19291311]
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[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
| GWAS snp | |
|---|---|
| PMID | [PMID 20066004] |
| Trait | Angiotensin-converting enzyme activity |
| Title | A genome-wide association study identifies new loci for ACE activity: potential implications for response to ACE inhibitor |
| Risk Allele | G |
| P-val | 3E-25 |
| 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.
[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
| GWAS snp | |
|---|---|
| PMID | [PMID 24625756]
|
| Trait | Serum metabolite levels |
| Title | Genetic determinants influencing human serum metabolome among African Americans. |
| Risk Allele | G |
| P-val | 9E-25 |
| Odds Ratio | .22 [NR] unit increase |
| GWAS snp | |
|---|---|
| PMID | [PMID 24816252]
|
| Trait | Blood metabolite ratios |
| Title | An atlas of genetic influences on human blood metabolites. |
| Risk Allele | A |
| P-val | 1E-37 |
| 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.
| ClinVar | |
|---|---|
| Risk | Rs4343(A;A) |
| Alt | Rs4343(A;A) |
| Reference | Rs4343(G;G) |
| Significance | Non-pathogenic |
| Disease | not specified Renal dysplasia |
| Variation | info |
| Gene | ACE |
| CLNDBN | not specified Renal dysplasia |
| Reversed | 0 |
| HGVS | NC_000017.10:g.61566031G>A |
| CLNSRC | |
| CLNACC | RCV000251736.1, RCV000278989.1, |
[PMID 28271690] Genetic Variation in the Renin-Angiotensin System and Diabetic Nephropathy in the Tunisian Population.
