{{Rsnum
|rsid=1799752
|Gene=ACE
|Orientation=plus
|geno1=(-;-)
|geno2=(-;ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC)
|geno3=(ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC;ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC)
|Chromosome=17
|position=63488529
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=ACE
}}[[rs1799752]] is one of four SNPs representing perhaps the best studied [[ACE]] SNP. It is actually not a single nucleotide polymorphism at all; instead, it is an insertion/deletion of an [[Alu]] repetitive element in an intron of the [[ACE]] gene. Alleles containing the insertion are called "I" alleles, and "D" alleles lack the repetitive element. The other dbSNP entries all tagging this same single insertion/deletion SNP are:

* [[rs4340]]
* [[rs13447447]] 
* [[rs4646994]]

There are numerous association studies reported for these SNPs. Examples:

*(D/D) homozygosity is associated with more marked hypertrophy of the left ventricle and may be associated with higher risk of adverse outcomes among carriers of [[familial hypertrophic cardiomyopathy]] mutations {{PMID|12601548}}

*(I;I) homozygotes respond better to [[Viagra]] than (D;I) or (D;D) individuals, in a study of 100+ Caucasian men with erectile dysfunction. (OR 3.07, CI: 1.03 - 9.13, p=0.04). {{PMID|12837457}}

*(I;I) homozygotes are are higher risk for early-onset [[psoriasis]], with an odds ratio of 1.88 (CI: 1.12-3.15, p=0.016).{{PMID|18031458}}

[http://blog.23andme.com/2009/02/18/snpwatch-genetic-variation-may-put-some-women-with-migraines-at-higher-risk-for-cardiovascular-disease/ 23andMe blog] snp puts women with migraines at higher risk for cardiovascular disease {{PMID|19221299|OA=1
}}

This is flatly contradicted by {{PMID|19221299|OA=1
}}, which in a study of 4,577 women over 12 years found no association between [[rs1799752]] and migraine or migraine aura status.

According to a table published by the [http://www.alzgene.org/geneoverview.asp?geneid=125 Alzheimer Research Forum], this SNP may be associated with susceptibility to [[Alzheimer's disease]].

{{ neighbor
| rsid = 4340
| distance = 2
}}

{{omim
|desc=ANGIOTENSIN I-CONVERTING ENZYME; ACE
|id=106180
|rsnum=1799752
}}

{{PharmGKB
|RSID=rs1799752
|Name_s=ACE:I/D, rs4646994, rs13447447, rs4340, rs1799752
|Gene_s=ACE
|Feature=
|Evidence=PubMed ID:15121491
|Annotation=In a clinical trial of spironolactone in chronic heart failure patients, the I allele of ACE:I/D was associated with improved response to treatment.
|Drugs=spironolactone
|Drug Classes=
|Diseases=Heart Failure
|Curation Level=Curated
|PharmGKB Accession ID=PA165109820
}}

{{PMID Auto
|PMID=19787680
|Title=Identification of specific angiotensin-converting enzyme variants and haplotypes that confer risk and protection against type 2 diabetic nephropathy
}}

{{PMID Auto
|PMID=20402757
|Title=The I/D polymorphism of the ACE1 gene is not associated with ischaemic stroke in Spanish individuals
}}
{{PMID Auto
|PMID=20577119
|Title=Pharmacogenetic association of hypertension candidate genes with fasting glucose in the GenHAT Study
|OA=1
}}

{{PharmGKB
|RSID=rs1799752
|Name_s=ACE:I/D
|Gene_s=ACE
|Feature=
|Evidence=PubMed ID:12837457
|Annotation=This variant is one of the insertion/deletion variant in intron 16 of the ACE gene. It is associated with sildenafil response for erectile dysfunction patients. Patients with D allele have elevated ACE serum concentrations and are less likely to respond to sildenafil.
|Drugs=sildenafil
|Drug Classes=
|Diseases=Erectile Dysfunction
|Curation Level=Curated
|PharmGKB Accession ID=PA161822202
}}

{{PharmGKB
|RSID=rs1799752
|Name_s=ACE:I/D
|Gene_s=ACE
|Feature=
|Evidence=PubMed ID:19752885
|Annotation=The ACE I/D, D allele was associated with higher overall mortality as compared with the I allele in Asian diastolic heart failure patients, this effect was diminished in those who received ACE inhibitors.
|Drugs=
|Drug Classes=ACE INHIBITORS, PLAIN
|Diseases=Heart Failure
|Curation Level=Curated
|PharmGKB Accession ID=PA165107205
}}

{{PharmGKB
|RSID=rs1799752
|Name_s=
|Gene_s=ACE
|Feature=
|Evidence=PubMed ID:19820429
|Annotation=Risk or phenotype-associated allele: D. Phenotype:The D- allele is associated with severe hypoglycaemia requiring emergency treatment in type 1 diabetic patients with preserved spontaneous ACE activity. Study size: 108. Study population/ethnicity: Type 1 diabetic patients with severe hypoglycaemia requiring medical emergency treatment during a 1-year period and 262 consecutive controls without such events. metric(s): OR =odds ratio: 1.9 (1.0-3.6) . Type of association: CO.
|Drugs=
|Drug Classes=
|Diseases=Diabetes Mellitus, Type 1; Hypoglycemia
|Curation Level=Curated
|PharmGKB Accession ID=PA165109214
}}

{{PMID Auto
|PMID=21330423
|Title=Is the ACE I/D polymorphism associated with extreme longevity? A study on a Spanish cohort
}}

{{PMID Auto
|PMID=17376814
|Title=Association between angiotensin-converting enzyme gene polymorphisms and diabetic nephropathy: case-control, haplotype, and family-based study in three European populations.
}}

{{PMID Auto
|PMID=18069999
|Title=Renin-angiotensin and endothelial nitric oxide synthase gene polymorphisms are not associated with the risk of incident type 2 diabetes mellitus: a prospective cohort study.
}}

{{PMID Auto
|PMID=18279468
|Title=Ten renin-angiotensin system-related gene polymorphisms in maximally treated Canadian Caucasian patients with heart failure.
|OA=1
}}

{{PMID Auto
|PMID=18513389
|Title=New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.
|OA=1
}}

{{PMID Auto
|PMID=18698212
|Title=Association of renin-angiotensin and endothelial nitric oxide synthase gene polymorphisms with blood pressure progression and incident hypertension: prospective cohort study.
|OA=1
}}

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

{{PMID Auto
|PMID=18830724
|Title=Assessment of Alzheimer's disease case-control associations using family-based methods.
|OA=1
}}

{{PMID Auto
|PMID=19131662
|Title=A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.
|OA=1
}}

{{PMID Auto
|PMID=19263529
|Title=Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.
|OA=1
}}

{{PMID Auto
|PMID=19330901
|Title=Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.
|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=19559392
|Title=A candidate gene association study of 77 polymorphisms in migraine.
|OA=1
}}

{{PMID Auto
|PMID=20059631
|Title=A multilocus candidate approach identifies ACE and HIF1A as susceptibility genes for cellulite.
}}

{{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=21438754
|Title=Gene variation in resistant hypertension: multilocus analysis of the angiotensin 1-converting enzyme, angiotensinogen, and endothelial nitric oxide synthase genes.
}}

{{PMID Auto
|PMID=23120809
|Title=[Angiotensin-converting enyme insertion/deletion polymorphism and blood pressure regulation in type 2 diabetic patients]
}}

{{PMID Auto
|PMID=22776130
|Title=Polymorphism of angiotensin I-converting enzyme gene is related to oral cancer and lymph node metastasis in male betel quid chewers.
}}

{{PMID Auto
|PMID=23543433
|Title=Gene polymorphisms and thyroid function in patients with heart failure.
}}

{{PMID Auto
|PMID=24801553
|Title=Analysis of multiple genetic polymorphisms in aggressive-growing and slow-growing abdominal aortic aneurysms
}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}