rs1799752
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| Make rs1799752(-;ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC) |
| Make rs1799752(ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC;ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 63488529 |
| Gene | ACE |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1799752 |
| dbSNP (classic) | rs1799752 |
| ClinGen | rs1799752 |
| ebi | rs1799752 |
| HLI | rs1799752 |
| Exac | rs1799752 |
| Gnomad | rs1799752 |
| Varsome | rs1799752 |
| LitVar | rs1799752 |
| Map | rs1799752 |
| PheGenI | rs1799752 |
| Biobank | rs1799752 |
| 1000 genomes | rs1799752 |
| hgdp | rs1799752 |
| ensembl | rs1799752 |
| geneview | rs1799752 |
| scholar | rs1799752 |
| rs1799752 | |
| pharmgkb | rs1799752 |
| gwascentral | rs1799752 |
| openSNP | rs1799752 |
| 23andMe | rs1799752 |
| SNPshot | rs1799752 |
| SNPdbe | rs1799752 |
| MSV3d | rs1799752 |
| GWAS Ctlg | rs1799752 |
| Max Magnitude | 0 |
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:
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]
23andMe blog snp puts women with migraines at higher risk for cardiovascular disease [PMID 19221299
]
This is flatly contradicted by [PMID 19221299], 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 Alzheimer Research Forum, this SNP may be associated with susceptibility to Alzheimer's disease.
[PMID 19787680] Identification of specific angiotensin-converting enzyme variants and haplotypes that confer risk and protection against type 2 diabetic nephropathy
[PMID 20402757] The I/D polymorphism of the ACE1 gene is not associated with ischaemic stroke in Spanish individuals
[PMID 20577119] Pharmacogenetic association of hypertension candidate genes with fasting glucose in the GenHAT Study
[PMID 21330423] Is the ACE I/D polymorphism associated with extreme longevity? A study on a Spanish cohort
[PMID 17376814] Association between angiotensin-converting enzyme gene polymorphisms and diabetic nephropathy: case-control, haplotype, and family-based study in three European populations.
[PMID 18069999] 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 18279468] Ten renin-angiotensin system-related gene polymorphisms in maximally treated Canadian Caucasian patients with heart failure.
[PMID 18513389] New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.
[PMID 18698212] Association of renin-angiotensin and endothelial nitric oxide synthase gene polymorphisms with blood pressure progression and incident hypertension: prospective cohort study.
[PMID 18805939] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.
[PMID 18830724] Assessment of Alzheimer's disease case-control associations using family-based methods.
[PMID 19131662] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.
[PMID 19263529] Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.
[PMID 19330901] Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.
[PMID 19539712] An age effect on the association of common variants of ACE with Alzheimer's disease.
[PMID 19559392] A candidate gene association study of 77 polymorphisms in migraine.
[PMID 20059631] A multilocus candidate approach identifies ACE and HIF1A as susceptibility genes for cellulite.
[PMID 20625269] Amyloid-beta-Related Genes SORL1 and ACE are Genetically Associated With Risk for Late-onset Alzheimer Disease in the Chinese Population.
[PMID 21438754] Gene variation in resistant hypertension: multilocus analysis of the angiotensin 1-converting enzyme, angiotensinogen, and endothelial nitric oxide synthase genes.
[PMID 23120809] [Angiotensin-converting enyme insertion/deletion polymorphism and blood pressure regulation in type 2 diabetic patients]
[PMID 22776130] Polymorphism of angiotensin I-converting enzyme gene is related to oral cancer and lymph node metastasis in male betel quid chewers.
[PMID 23543433] Gene polymorphisms and thyroid function in patients with heart failure.
[PMID 24801553] Analysis of multiple genetic polymorphisms in aggressive-growing and slow-growing abdominal aortic aneurysms
[PMID 25683681] Positive Association of D Allele of ACE Gene With High Altitude Pulmonary Edema in Indian Population
| ClinVar | |
|---|---|
| Risk | rs1799752(ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC;ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC) rs1799752(G;G) |
| Alt | rs1799752(ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC;ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC) rs1799752(G;G) |
| Reference | Rs1799752(-;-) |
| Significance | Drug-response |
| Disease | captopril response - Efficacy |
| Variation | info |
| Gene | ACE |
| CLNDBN | captopril response - Efficacy |
| Reversed | 0 |
| HGVS | NC_000017.10:g.61565890_61565891insATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC |
| CLNSRC | PharmGKB Clinical Annotation PharmGKB |
| CLNACC | RCV000417130.1, |
[PMID 28271690] Genetic Variation in the Renin-Angiotensin System and Diabetic Nephropathy in the Tunisian Population.
