|(T;T)||0||common in clinvar|
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]
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.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
|Disease||captopril response - Efficacy|
|CLNDBN||captopril response - Efficacy|
|CLNSRC||PharmGKB Clinical Annotation PharmGKB|
[PMID 28271690] Genetic Variation in the Renin-Angiotensin System and Diabetic Nephropathy in the Tunisian Population.