Annotated PGx Gene Information for ACE
Submitted by: Caroline F. Thorn, PharmGKB
Reviewed by: Marisa Wong Medina, PARC
Submitted date: August 7, 2006
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| Gene HGNC Name: | ACE |
|---|---|
| Introductory Information: | ACE plays an important role in two pathways which contribute to the regulation of blood pressure, the renin-angiotensin system (RAS) and the kinin-kallikrien cascade. ACE converts the inactive angiotensin I peptide (also known as Ang 1-10) to the active angiotensin II (Ang 1-8) (see the ACE Inhibitor Pathway). Angiotensin IIhas a variety of functions including vasoconstriction and stimulating release of aldosterone, that in turn causes resorption of sodium and water from urine and increases blood pressure. ACE also metabolizes the vasodilator bradykinin [reviewed in PMID: 11931993]. ACE is the target of the ACE inhibitor family of drugs making it a potential PD pharmacogene. However, most evidence to date on polymorphisms in ACE have been with respect to their impact on disease and clinical outcomes rather than drug response (described extensively in OMIM 106180). The ACE gene has been resequenced in Black or African American and White individuals from the Coriell DNA repository and 13 haplotypes were identified [PMID: 10319862]. The most well known variant in the ACE gene is the insertion/deletion in intron 16, ACE:I/D [PMID: 1976655, 16690893]. Adverse drug responses (ADRs) to ace inhibitors include mild side effects such as cough and serious side effects such as angioedema. These ADRs occur at different frequencies in different racial and ethnic groups, with an increased risk for cough in Asians and an increased risk for angioedema in Black or African Americans [PMID: 16679330]. |
| Key PubMed IDs: | 1976655, 16679330 |
| Reviews: | 1976655, 16690893, 16614314 |
| Key Pathways: | ACE Inhibitor Pathway |
| Drugs/Substrates: | ace inhibitors, captopril, enalapril, fosinopril, imidapril, lisinopril |
| Phenotypes/Diseases: | Phenotypes: Genetic Epidemiology of Responses to Antihypertensives (GERA) Diseases: Hypertension, Cough, Angioneurotic Edema |
| Important Variants | ACE: I/D |