{{Rsnum
|rsid=4343
|Gene=ACE
|Chromosome=17
|position=63488670
|Orientation=plus
|ReferenceAllele=G
|GMAF=0.3815
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=ACE
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 26.5 | 48.7 | 24.8
| HCB | 53.3 | 38.7 | 8.0
| JPT | 32.7 | 51.3 | 15.9
| YRI | 66.7 | 27.2 | 6.1
| ASW | 61.4 | 33.3 | 5.3
| CHB | 53.3 | 38.7 | 8.0
| CHD | 41.3 | 49.5 | 9.2
| GIH | 35.6 | 49.5 | 14.9
| LWK | 80.9 | 18.2 | 0.9
| MEX | 41.4 | 39.7 | 19.0
| MKK | 67.9 | 28.8 | 3.2
| TSI | 11.8 | 47.1 | 41.2
| HapMapRevision=28
}}
A and G alleles of rs4343 are strongly associated marking insertion and deletion alleles of ACE I/D respectively. For those looking for the ACE Alu Insertion/Deletion, this is a very good substitute for people searching for ACE Del16. G would mean deletion.

{{PMID|19108684}} A haplotype of [[rs4311]], [[rs4343]], [[rs699]] increases risk of diabetic nephropathy 4x.

{{PMID Auto
|PMID=19956428
|Title=Angiotensin-converting enzyme levels and activity in Alzheimer's disease: differences in brain and CSF ACE and association with ACE1 genotypes
|OA=1
}}

{{PharmGKB
|RSID=rs4343
|Name_s=tag SNP for ACE:I/D, ACE:2350A>G in exon 17, ACE:Thr202Thr
|Gene_s=ACE
|Feature=
|Evidence=PubMed ID:18057531
|Annotation=While the ACE:I/D has dbSNP identifiers rs1799752, rs4340, rs13447447 and rs4646994, measurement of a single base at these positions does not give an informative genotype. In Europeans, rs4343 is in complete LD with the ACE:I/D, with the A and G alleles of rs4343 marking the insertion and deletion alleles of ACE:I/D respectively.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA165107172
}}

{{PMID Auto GWAS
|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
|RiskAllele=G
|Pval=3E-25
|OR=16.20
|ORtxt=[NR] % variance
}}

{{PMID Auto
|PMID=20639399
|Title=Association between angiotensin converting enzyme G2350A polymorphism and hypertension risk: a meta-analysis
}}

{{PharmGKB
|RSID=rs4343
|Name_s=
|Gene_s=ACE
|Feature=
|Evidence=PubMed ID:16642441
|Annotation=In an inbred Israeli Arab community, rs4343 was shown to be significantly associated with risk of developing Alzheimer Disease, especially when analyzed in a combined haplotype with rs4351.
|Drugs=
|Drug Classes=
|Diseases=Alzheimer Disease
|Curation Level=Curated
|PharmGKB Accession ID=PA161795939
}}

{{PMID Auto
|PMID=22508051
|Title=Renin-Angiotensin-aldosterone system gene polymorphisms and coronary artery disease: detection of gene-gene and gene-environment interactions
}}

{{PMID Auto
|PMID=14986105
|Title=Common variants of ACE contribute to variable age-at-onset of Alzheimer's disease.
}}

{{PMID Auto
|PMID=17173513
|Title=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 Auto
|PMID=17460369
|Title=Angiotensin-converting enzyme gene 2350 G/A polymorphism is associated with left ventricular hypertrophy but not essential hypertension.
}}

{{PMID Auto
|PMID=18076107
|Title=Confronting complexity in late-onset Alzheimer disease: application of two-stage analysis approach addressing heterogeneity and epistasis.
|OA=1
}}

{{PMID Auto
|PMID=18194558
|Title=A hierarchical and modular approach to the discovery of robust associations in genome-wide association studies from pooled DNA samples.
|OA=1
}}

{{PMID Auto
|PMID=18431000
|Title=Haplotypes across ACE and the risk of Alzheimer's disease: the three-city study.
}}

{{PMID Auto
|PMID=18622756
|Title=An alternative method for genotyping of the ACE I/D polymorphism.
}}

{{PMID Auto
|PMID=18637188
|Title=RAS gene polymorphisms, classical risk factors and the advent of coronary artery disease in the Portuguese population.
|OA=1
}}

{{PMID Auto
|PMID=18698231
|Title=Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues.
|OA=1
}}

{{PMID Auto
|PMID=18805939
|Title=Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.
|OA=1
}}

{{PMID Auto
|PMID=18813964
|Title=Alzheimer's disease risk variants show association with cerebrospinal fluid amyloid beta.
|OA=1
}}

{{PMID Auto
|PMID=19105203
|Title=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.
|OA=1
}}

{{PMID Auto
|PMID=19291311
|Title=ACE I/D genotype, adiposity, and blood pressure in children.
|OA=1
}}

{{PMID Auto
|PMID=19539712
|Title=An age effect on the association of common variants of ACE with Alzheimer's disease.
}}

{{PMID Auto
|PMID=20486282
|Title=Genetic variants in the renin-angiotensin-aldosterone system and salt sensitivity of blood pressure.
|OA=1
}}

{{PMID Auto
|PMID=20565774
|Title=Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
|OA=1
}}

{{PMID Auto
|PMID=20625269
|Title=Amyloid-beta-Related Genes SORL1 and ACE are Genetically Associated With Risk for Late-onset Alzheimer Disease in the Chinese Population.
}}

{{PMID Auto
|PMID=20682755
|Title=A pilot study of gene/gene and gene/environment interactions in Alzheimer disease.
|OA=1
}}

{{PMID Auto
|PMID=21258267
|Title=Angiotensin-converting enzyme tag single nucleotide polymorphisms in patients with intracerebral hemorrhage.
}}

{{PMID Auto
|PMID=21297258
|Title=A multi-center study of ACE and the risk of late-onset Alzheimer's disease.
|OA=1
}}

{{PMID Auto
|PMID=21709586
|Title=Common variants of the ACE gene and aneurysmal subarachnoid hemorrhage in a Danish population: a case-control study.
}}

{{PMID Auto
|PMID=21832968
|Title=Pharmacogenetic predictors of angiotensin-converting enzyme inhibitor-induced cough: the role of ACE, ABO, and BDKRB2 genes.
}}

{{PMID Auto
|PMID=22388798
|Title=Gene panels to help identify subgroups at high and low risk of coronary heart disease among those randomized to antihypertensive treatment: the GenHAT study.
|OA=1
}}

{{GET Evidence
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs4343
|overall_frequency_n=6039
|overall_frequency_d=10758
|overall_frequency=0.56135
|n_genomes=42
|n_genomes_annotated=0
|n_haplomes=58
|n_articles=1
|n_articles_annotated=0
|in_pharmgkb=Y
|autoscore=1
|webscore=N
}}

{{PMID Auto
|PMID=23065222
|Title=Association of angiotensin-converting enzyme gene 2350 G/A polymorphism with diabetic retinopathy in Chinese Han population.
}}

{{PMID Auto
|PMID=24851853
|Title=Angiotensin-converting enzyme gene polymorphisms and risk for sporadic Alzheimer's disease: a meta-analysis
}}

{{PMID Auto
|PMID=24860821
|Title=Gender Specific Association of RAS Gene Polymorphism with Essential Hypertension: A Case-Control Study
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}